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Littérature scientifique sur le sujet « Novel mutation »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 10 mars 2023

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Articles de revues sur le sujet "Novel mutation"

Matsutani, Taro, Yuki Ueno, Tsukasa Fukunaga et Michiaki Hamada. « Discovering novel mutation signatures by latent Dirichlet allocation with variational Bayes inference ». Bioinformatics 35, n^o 22 (16 avril 2019) : 4543–52. http://dx.doi.org/10.1093/bioinformatics/btz266.

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Abstract Motivation A cancer genome includes many mutations derived from various mutagens and mutational processes, leading to specific mutation patterns. It is known that each mutational process leads to characteristic mutations, and when a mutational process has preferences for mutations, this situation is called a ‘mutation signature.’ Identification of mutation signatures is an important task for elucidation of carcinogenic mechanisms. In previous studies, analyses with statistical approaches (e.g. non-negative matrix factorization and latent Dirichlet allocation) revealed a number of mutation signatures. Nonetheless, strictly speaking, these existing approaches employ an ad hoc method or incorrect approximation to estimate the number of mutation signatures, and the whole picture of mutation signatures is unclear. Results In this study, we present a novel method for estimating the number of mutation signatures—latent Dirichlet allocation with variational Bayes inference (VB-LDA)—where variational lower bounds are utilized for finding a plausible number of mutation patterns. In addition, we performed cluster analyses for estimated mutation signatures to extract novel mutation signatures that appear in multiple primary lesions. In a simulation with artificial data, we confirmed that our method estimated the correct number of mutation signatures. Furthermore, applying our method in combination with clustering procedures for real mutation data revealed many interesting mutation signatures that have not been previously reported. Availability and implementation All the predicted mutation signatures with clustering results are freely available at http://www.f.waseda.jp/mhamada/MS/index.html. All the C++ source code and python scripts utilized in this study can be downloaded on the Internet (https://github.com/qkirikigaku/MS_LDA). Supplementary information Supplementary data are available at Bioinformatics online.

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Kapoor, Ritika R., Sarah E. Flanagan, Piers Fulton, Anupam Chakrapani, Bernadette Chadefaux, Tawfeg Ben-Omran, Indraneel Banerjee, Julian P. Shield, Sian Ellard et Khalid Hussain. « Hyperinsulinism–hyperammonaemia syndrome : novel mutations in the GLUD1 gene and genotype–phenotype correlations ». European Journal of Endocrinology 161, n^o 5 (novembre 2009) : 731–35. http://dx.doi.org/10.1530/eje-09-0615.

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BackgroundActivating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome. Patients present with HA and leucine-sensitive hypoglycaemia. GDH is regulated by another intra-mitochondrial enzyme sirtuin 4 (SIRT4). Sirt4 knockout mice demonstrate activation of GDH with increased amino acid-stimulated insulin secretion.ObjectivesTo study the genotype–phenotype correlations in patients with GLUD1 mutations. To report the phenotype and functional analysis of a novel mutation (P436L) in the GLUD1 gene associated with the absence of HA.Patients and methodsTwenty patients with HI from 16 families had mutational analysis of the GLUD1 gene in view of HA (n=19) or leucine sensitivity (n=1). Patients negative for a GLUD1 mutation had sequence analysis of the SIRT4 gene. Functional analysis of the novel P436L GLUD1 mutation was performed.ResultsHeterozygous missense mutations were detected in 15 patients with HI/HA, 2 of which are novel (N410D and D451V). In addition, a patient with a normal serum ammonia concentration (21 μmol/l) was heterozygous for a novel missense mutation P436L. Functional analysis of this mutation confirms that it is associated with a loss of GTP inhibition. Seizure disorder was common (43%) in our cohort of patients with a GLUD1 mutation. No mutations in the SIRT4 gene were identified.ConclusionPatients with HI due to mutations in the GLUD1 gene may have normal serum ammonia concentrations. Hence, GLUD1 mutational analysis may be indicated in patients with leucine sensitivity; even in the absence of HA. A high frequency of epilepsy (43%) was observed in our patients with GLUD1 mutations.

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Haynes, Alison. « Novel DOCK8 Mutation ». LymphoSign Journal 2, n^o 1 (1 mars 2015) : 39–46. http://dx.doi.org/10.14785/lpsn-2014-0023.

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Background: Hyper IgE syndrome (HIES) is a primary immunodeficiency with sporadic, autosomal dominant (STAT3 mutation) and autosomal recessive (DOCK8 and TYK2 mutations) inheritance patterns. HIES secondary to DOCK8 mutation is characterized by extensive cutaneous viral and staphylococcal infections, recurrent sinopulmonary infections, severe allergic diseases, increased susceptibility to malignancy with lymphopenia, eosinophilia, and elevated immunoglobulin E (IgE). Methods: This case report highlights the clinical presentation and immune investigations of a male patient with a novel DOCK8 mutation. Results: Our patient presented with cutaneous viral infections including severe molluscum contagiosum and herpes simplex virus plus skin abscesses and acute otitis media. In addition to infections, he developed intermittent diarrhea, eczematous lesions, abnormal fingernails, oral ulcers, and Bell's palsy. Immune evaluation revealed lymphopenia, in particular low CD8 cells, low mitogen stimulation response, and poor specific antibody production requiring immunoglobulin replacement. Genetic sequencing confirmed a novel mutation in DOCK8. Conclusion: Patients with significant cutaneous viral and bacterial infections, recurrent sinopulmonary infections, severe allergic diseases, and lymphopenia with associated elevated IgE should be investigated for DOCK8 mutation. This case report highlights a novel mutation in the DOCK8 exon 45 aa1970, c.5908 G>C change alanine to proline homozygous change A1970 to P1970 Statement of novelty: This case reports on a novel mutation in DOCK8

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Kim, Youn Jung, Hong Zhang, Yejin Lee, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, James P. Simmer, Jan C. C. Hu et Jung-Wook Kim. « Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta ». Journal of Personalized Medicine 13, n^o 2 (14 février 2023) : 326. http://dx.doi.org/10.3390/jpm13020326.

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Amelogenesis imperfecta (AI) is a heterogeneous collection of hereditary enamel defects. The affected enamel can be classified as hypoplastic, hypomaturation, or hypocalcified in form. A better understanding of normal amelogenesis and improvements in our ability to diagnose AI through genetic testing can be realized through more complete knowledge of the genes and disease-causing variants that cause AI. In this study, mutational analysis was performed with whole exome sequencing (WES) to identify genetic etiology underlying the hypomaturation AI condition in affected families. Mutational analyses identified biallelic WDR72 mutations in four hypomaturation AI families. Novel mutations include a homozygous deletion and insertion mutation (NM_182758.4: c.2680_2699delinsACTATAGTT, p.(Ser894Thrfs*15)), compound heterozygous mutations (paternal c.2332dupA, p.(Met778Asnfs*4)) and (maternal c.1287_1289del, p.(Ile430del)) and a homozygous 3694 bp deletion that includes exon 14 (NG_017034.2:g.96472_100165del). A homozygous recurrent mutation variant (c.1467_1468delAT, p.(Val491Aspfs*8)) was also identified. Current ideas on WDR72 structure and function are discussed. These cases expand the mutational spectrum of WDR72 mutations causing hypomaturation AI and improve the possibility of genetic testing to accurately diagnose AI caused by WDR72 defects.

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Lee, Yejin, Hong Zhang, Figen Seymen, Youn Jung Kim, Yelda Kasimoglu, Mine Koruyucu, James P. Simmer, Jan C. C. Hu et Jung-Wook Kim. « Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta ». Journal of Personalized Medicine 12, n^o 2 (24 janvier 2022) : 150. http://dx.doi.org/10.3390/jpm12020150.

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Amelogenesis imperfecta (AI) is a group of rare genetic diseases affecting the tooth enamel. AI is characterized by an inadequate quantity and/or quality of tooth enamel and can be divided into three major categories: hypoplastic, hypocalcified and hypomaturation types. Even though there are some overlapping phenotypes, hypomaturation AI enamel typically has a yellow to brown discoloration with a dull appearance but a normal thickness indicating a less mineralized enamel matrix. In this study, we recruited four Turkish families with hypomaturation AI and performed mutational analysis using whole exome sequencing. These analyses revealed two novel homozygous mutations in the KLK4 gene: a nonsense mutation in exon 3 (NM_004917.4:c.170C>A, p.(Ser57*)) was found in families 1, 2 and 3 and a missense mutation in exon 6 (c.637T>C, p.(Cys213Arg)) in family 4. Functional analysis showed that the missense mutation transcript could not translate the mutant protein efficiently or generated an unstable protein that lacked functional activity. The two novel inactivating KLK4 mutations we identified caused a hypomaturation AI phenotype similar to those caused by the four previously described KLK4 nonsense and frameshift mutations. This study improves our understanding of the normal and pathologic mechanisms of enamel formation.

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Helgadottir, Hildur, Paola Ghiorzo, Remco van Doorn, Susana Puig, Max Levin, Richard Kefford, Martin Lauss et al. « Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations ». Journal of Medical Genetics 57, n^o 5 (5 octobre 2018) : 316–21. http://dx.doi.org/10.1136/jmedgenet-2018-105610.

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BackgroundInherited CDKN2A mutation is a strong risk factor for cutaneous melanoma. Moreover, carriers have been found to have poor melanoma-specific survival. In this study, responses to novel immunotherapy agents in CDKN2A mutation carriers with metastatic melanoma were evaluated.MethodsCDKN2A mutation carriers that have developed metastatic melanoma and undergone immunotherapy treatments were identified among carriers enrolled in follow-up studies for familial melanoma. The carriers’ responses were compared with responses reported in phase III clinical trials for CTLA-4 and PD-1 inhibitors. From publicly available data sets, melanomas with somatic CDKN2A mutation were analysed for association with tumour mutational load.ResultsEleven of 19 carriers (58%) responded to the therapy, a significantly higher frequency than observed in clinical trials (p=0.03, binomial test against an expected rate of 37%). Further, 6 of the 19 carriers (32%) had complete response, a significantly higher frequency than observed in clinical trials (p=0.01, binomial test against an expected rate of 7%). In 118 melanomas with somatic CDKN2A mutations, significantly higher total numbers of mutations were observed compared with 761 melanomas without CDKN2A mutation (Wilcoxon test, p<0.001).ConclusionPatients with CDKN2A mutated melanoma may have improved immunotherapy responses due to increased tumour mutational load, resulting in more neoantigens and stronger antitumorous immune responses.

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Wan, Youzhong, Michael S. Lawrence, Lili Wang, Petar Stojanov, Carrie Sougnez, Kristen Stevenson, Lillian Werner et al. « Large-Scale CLL Genome Analysis Reveals Novel Cancer Genes, Including SF3B1 ». Blood 118, n^o 21 (18 novembre 2011) : 463. http://dx.doi.org/10.1182/blood.v118.21.463.463.

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Abstract Abstract 463 The somatic genetic basis of chronic lymphocytic leukemia (CLL), a common and clinically heterogenous adult leukemia, remains poorly understood. Massively parallel sequencing technology provides a method for systematic discovery of genetic alterations that underlie disease, and for uncovering new therapeutic targets and biomarkers. We therefore performed DNA sequencing of 91 CLL samples with matched germline, consisting of 88 exomes and 3 genomes. Samples were collected from patients displaying a range of characteristics representing the broad clinical spectrum of CLL. Libraries were constructed and sequenced on an Illumina GA-II sequencer to deep coverage. Point mutations and indels were detected by comparing sequences of each tumor to its corresponding normal. We detected 1828 non-silent mutations in protein-coding sequences, corresponding to an average somatic mutation rate of 0.72/Mb (range 0.075–2.14). Nine cancer genes were identified, as they were mutated significantly more often than the background rate given their sequence composition across all 91 CLL/normal pairs. Four have been previously described in CLL (TP53, ATM, MYD88 and NOTCH1); the others were novel (SF3B1, ZMYM3, MAPK1, FBXW7 and DDX3X). Strikingly, SF3B1, which functions at the catalytic core of the spliceosome, was mutated the second most frequently (15%). All 14 identified mutations localized to a discrete region (exons 12–18), and 7 were recurrent (K700E). We additionally validated the SF3B1-K700E mutation through genotyping of 101 independent CLL samples. The 9 significantly mutated genes fell into 5 core signaling pathways, in which the genes play established roles: DNA damage repair and cell-cycle control (TP53, ATM), Notch signaling (FBXW7, NOTCH1), inflammatory pathways (MYD88, DDX3X, MAPK1) and RNA splicing/processing (SF3B1, DDX3X). The common cytogenetic aberrations in CLL carry strong prognostic significance, implying that they reflect distinct pathogenesis. Supporting this hypothesis, we discovered strong associations between different driver mutations and key FISH abnormalities. Most TP53 mutations were in samples with del(17p) (p<0.001), resulting in homozygous p53 inactivation. Del(11q) was marginally associated with mutation in ATM which lies in the minimally deleted region of chr. 11q (p=0.09); but clearly associated with SF3B1 mutation (p=0.004), suggesting interaction within this clinical subgroup of CLL. NOTCH1 and FBXW7 mutations (present in independent samples) were associated with trisomy 12 (p=0.009 and 0.05), suggesting that aberrant Notch signaling plays an important role in this clinical subgroup. Finally, all detected mutations in MYD88 (known to be activating for the NFkB pathway) were present in samples harboring heterozygous del(13q) (p=0.009) with mutated IGHV status (p=0.002). These findings suggest that NFkB activation plays a driving role in this low risk clinical subgroup. To define the impact of the mutated cancer genes on disease outcome, we constructed a Cox multivariable regression model for factors contributing to earlier time to first therapy (TTFT) in the 91 CLLs. SF3B1 mutation was predictive of poor prognosis (HR 3.17, p=0.004), independent of other established markers (i.e. IGVH mutation; del(17p); ATM mutation). Consistent with this analysis, patients harboring the SF3B1 mutation alone had short TTFT, as did patients with del(11q) or del(11q)+SF3B1 mutation. All 3 groups demonstrated significantly shorter TTFT than patients without either SF3B1 mutation or del(11q). Because SF3B1 encodes a splicing factor, we looked for functional evidence of splicing alterations associated with SF3B1 mutation. Indeed, mRNA targets of the spliceosome exhibited greater intron retention in CLLs with mutated vs nonmutated SF3B1, confirming alteration in normal SF3B1 function. Understanding the mutational landscape of CLL provides a starting point for systematic analyses to address fundamental questions in CLL, including how mutated genes alter cellular networks and phenotypes, and thereby contribute to disease heterogeneity. Our discovery of striking associations between driver mutations and standard CLL prognostic markers (cytogenetic aberrations, IGVH mutational status) suggest synergistic interactions. In particular, our studies highlight pre-mRNA splicing as a critical but thus far unexplored cellular process contributing to CLL. Disclosures: No relevant conflicts of interest to declare.

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Ding, Fadian, Xiaoping Hong, Xiangqun Fan, Shirong Huang, Wei Lian, Xingting Chen, Qicai Liu, Youting Chen et Feng Gao. « DDIT4 Novel Mutations in Pancreatic Cancer ». Gastroenterology Research and Practice 2021 (30 avril 2021) : 1–10. http://dx.doi.org/10.1155/2021/6674404.

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Pancreatic cancer is one of the most common malignancies worldwide. This study is aimed at searching the possible genetic mutations and the value of novel gene mutation in the DNA damage-inducible transcript 4 (DDIT4) and signaling pathway in pancreatic cancer. Polymerase chain reaction (PCR) was performed to amplify the DNA sequences of DDIT4 from patients with pancreatic ductal adenocarcinoma. In addition, we used IHC to detect the expression level of DDIT4 in patients with pancreatic cancer in different types of gene mutation. Double-labeled immunofluorescence was employed to explore the expression levels of DDIT4/LC3 and their potential correlation. Our work indicated the two novel stable gene mutations in DDIT4 mRNA 3 ′ -untranslated region (m.990 U>A and m.1246 C>U). Thirteen samples were found to have mutation in the DDIT4 3 ′ -untranslated regions (UTR). To further verify the influence of gene mutation on protein expression, we performed immunohistochemistry on different gene mutation types, and we found a correlation between DDIT4 expression and gene mutation, which is accompanied by nuclear staining deepening. In order to further discuss the clinical value of DDIT4 gene mutation, immunofluorescence suggested that the expression of DDIT4 colocated with LC3; thus, we speculated that DDIT4 mutation may be involved in autophagy in pancreatic cancer cell. In this study, we found mutation in the 3 ′ -UTR region of DDIT4, which may be associated with DDIT4 expression and tumor autophagy in pancreatic cancer tissues.

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Johnson, Benny, Laurence Cooke et Daruka Mahadevan. « Novel mutational and pathway signatures in relapsed/refractory colorectal cancer patients. » Journal of Clinical Oncology 34, n^o 4_suppl (1 février 2016) : 591. http://dx.doi.org/10.1200/jco.2016.34.4_suppl.591.

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591 Background: In the management of metastatic colorectal cancer (mCRC), all RAS (KRAS, NRAS) and BRAF V600E mutation status guides therapeutic options and identify a unique cohort of patients (pts) with a more aggressive clinical course. We hypothesized that relapsed/refractory CRC pts develop unique mutational signatures that guide standard and targeted therapy but also predict for therapeutic response, identify novel driver mutations and highlight key signaling pathways for clinical decision making. Methods: Relapsed/refractory mCRC pts (N=31) were molecularly profiled by NGS Caris Molecular Intelligence (IHC, FISH/CISH, NGS) and/or Foundation One (NGS, copy number). Samples were annotated by histology, primary and/or metastatic site, biopsy location, gene mutation, domain, topology, and mutation count. Web-based bioinformatics tools (Enrichr/IntAct) were utilized to analyze mutational profiles, identifying pathway-networks. Results: Pts included progressed on fluoropyrimidines, oxaliplatin, irinotecan, bevacizumab, cetuximab or panitumumab. Most common histology was adenocarcinoma followed by squamous cell carcinoma (colon N=28; rectal N=3). TP53 was the most common mutation followed by APC, KRAS, PIK3CA, BRAF, SMAD4, SPTA1, FAT1, PDGFRA, ATM, ROS1, ALK, CDKN2A, FBXW7, TGFBR2, NOTCH1 and HER3. Pts had on average >5 unique gene mutations. High mutational burden was not predictive for PD-1 (5 pts) or PD-L1 (1 pt) positivity. The most common activated signaling pathways were: ERRB2/HER2, FGFR, p38 activation through BRAF-MEK cascade via RIT and RIN, ARMS-mediated activation of MAPK cascade, and VEGFR2. Conclusions: Dominant oncogene mutations do not always equate with oncogenic dependence, therefore understanding the pathologic interactome in each patient is important to both identification of clinically relevant targets and choosing the next best therapy. Mutational signatures derived from corresponding ‘pathway-networks’ represent a meaningful tool to 1). Evaluate functional investigation in the laboratory, 2). Predict response to drug therapy, and 3). Guide rational drug combinations in relapsed/refractory mCRC pts entering targeted and immune checkpoint trials.

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Windpessl, Martin, Marco Ritelli, Manfred Wallner et Marina Colombi. « A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia ». American Journal of Nephrology 43, n^o 4 (2016) : 245–50. http://dx.doi.org/10.1159/000445845.

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Background: Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9 gene. Patient ethnicity is diverse but only few Caucasian families with an SLC2A9 mutation have been reported. Methods: The current report describes the clinical history, biochemical and molecular genetics findings of a native Austrian family with RHUC2. The propositus presented with 2 episodes of exercise-induced AKI and exhibited profound hypouricemia. Mutational screening of the SLC22A12 and SLC2A9 genes was performed. Results: The molecular analyses revealed the homozygous c.512G>A transition that leads to the p.Arg171His missense substitution in SLC2A9, confirming the diagnosis of RHUC2. Segregation study of the causal mutation revealed that the mother and elder sister were heterozygous carriers, whereas the younger sister was found to be homozygous. Conclusion: We report the identification of a novel mutation in SLC2A9 as the cause of RHUC2 in a native Austrian family. We show that glucose transporter 9 mutations cause severe hypouricemia in homozygous individuals and confirm the high risk of AKI in male individuals harbouring these mutations. In our literature review, we provide an overview of the putative underlying pathophysiology, potential renal complications, findings on kidney biopsy as well as potential long-time renal sequelae.

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Thèses sur le sujet "Novel mutation"

Sandrock, Kirstin, Ralf Knöfler, Andreas Greinacher, Birgitt Fürll, Sebastian Gerisch, Ulrich Schuler, Siegmund Gehrisch, Anja Busse et Barbara Zieger. « Novel Mutation in Bernard-Soulier Syndrome ». Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-136606.

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Background: Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. Methods: We report on a patient demonstrating typical BSS phenotype (thrombocytopenia with giant platelets, bleeding symptoms). However, BSS was not diagnosed until he reached the age of 39 years. Results: Flow cytometry of the patient’s platelets revealed absence of GPIb/IX/V receptor surface expression. In addition, immunofluorescence analysis of patient’s platelets demonstrated very faint staining of GPIX. A novel homozygous deletion comprising 11 nucleotides starting at position 1644 of the GPIX gene was identified using molecular genetic analysis. Conclusions: The novel 11-nucleotide deletion (g.1644_1654del11) was identified as causing the bleeding disorder in the BSS patient. This homozygous deletion includes the last 4 nucleotides of the Kozak sequence as well as the start codon and the following 4 nucleotides of the coding sequence. The Kozak sequence is a region indispensable for the initiation of the protein translation process, thus preventing synthesis of functional GPIX protein in the case of deletion
Hintergrund: Das Bernard-Soulier-Syndrom (BSS) ist eine angeborene Blutungsstörung, die mit Thrombozytopenie, Thrombozytopathie und verminderter Thrombozytenadhäsion assoziiert ist. BSS wird durch genetische Veränderungen des Glykoprotein(GP)-Ib/IX/V-Komplexes verursacht. Methoden: Wir berichten über einen Patienten mit typischem BSS-Phänotyp (Thrombozytopenie mit Riesenthrombozyten, Blutungssymptome). Dennoch wurde die Diagnose BSS erst im Alter von 39 Jahren gestellt. Ergebnisse: Die Durchflusszytometrie der Thrombozyten des Patienten ergab eine fehlende Oberflächenexpression des GPIb/IX/V-Rezeptors. Zusätzlich zeigten Immunfluoreszenz-Analysen der Thrombozyten eine nur sehr schwache Anfärbung von GPIX. In der molekulargenetischen Analyse wurde eine noch nicht bekannte homozygote Deletion von 11 Nukleotiden (beginnend an Position 1644 im GPIX-Gen) identifiziert. Schlussfolgerungen: Diese neue Deletion von 11 Nukleotiden (g.1644_1654del11) wurde als Ursache für die vermehrte Blutungsneigung bei dem BSS-Patienten identifiziert. Von der homozygoten Deletion betroffen sind die letzten 4 Nukleotide der Kozak-Sequenz sowie das Startkodon und weitere 4 Nukleotide des kodierenden Bereichs. Die Kozak-Sequenz ist unerlässlich für die Initiation der Translation in der Proteinbiosynthese, so dass die bei dem Patienten nachgewiesene Deletion die Synthese des funktionellen GPIX-Proteins verhindert
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich

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Sandrock, Kirstin, Ralf Knöfler, Andreas Greinacher, Birgitt Fürll, Sebastian Gerisch, Ulrich Schuler, Siegmund Gehrisch, Anja Busse et Barbara Zieger. « Novel Mutation in Bernard-Soulier Syndrome ». Karger, 2010. https://tud.qucosa.de/id/qucosa%3A27717.

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Background: Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. Methods: We report on a patient demonstrating typical BSS phenotype (thrombocytopenia with giant platelets, bleeding symptoms). However, BSS was not diagnosed until he reached the age of 39 years. Results: Flow cytometry of the patient’s platelets revealed absence of GPIb/IX/V receptor surface expression. In addition, immunofluorescence analysis of patient’s platelets demonstrated very faint staining of GPIX. A novel homozygous deletion comprising 11 nucleotides starting at position 1644 of the GPIX gene was identified using molecular genetic analysis. Conclusions: The novel 11-nucleotide deletion (g.1644_1654del11) was identified as causing the bleeding disorder in the BSS patient. This homozygous deletion includes the last 4 nucleotides of the Kozak sequence as well as the start codon and the following 4 nucleotides of the coding sequence. The Kozak sequence is a region indispensable for the initiation of the protein translation process, thus preventing synthesis of functional GPIX protein in the case of deletion.
Hintergrund: Das Bernard-Soulier-Syndrom (BSS) ist eine angeborene Blutungsstörung, die mit Thrombozytopenie, Thrombozytopathie und verminderter Thrombozytenadhäsion assoziiert ist. BSS wird durch genetische Veränderungen des Glykoprotein(GP)-Ib/IX/V-Komplexes verursacht. Methoden: Wir berichten über einen Patienten mit typischem BSS-Phänotyp (Thrombozytopenie mit Riesenthrombozyten, Blutungssymptome). Dennoch wurde die Diagnose BSS erst im Alter von 39 Jahren gestellt. Ergebnisse: Die Durchflusszytometrie der Thrombozyten des Patienten ergab eine fehlende Oberflächenexpression des GPIb/IX/V-Rezeptors. Zusätzlich zeigten Immunfluoreszenz-Analysen der Thrombozyten eine nur sehr schwache Anfärbung von GPIX. In der molekulargenetischen Analyse wurde eine noch nicht bekannte homozygote Deletion von 11 Nukleotiden (beginnend an Position 1644 im GPIX-Gen) identifiziert. Schlussfolgerungen: Diese neue Deletion von 11 Nukleotiden (g.1644_1654del11) wurde als Ursache für die vermehrte Blutungsneigung bei dem BSS-Patienten identifiziert. Von der homozygoten Deletion betroffen sind die letzten 4 Nukleotide der Kozak-Sequenz sowie das Startkodon und weitere 4 Nukleotide des kodierenden Bereichs. Die Kozak-Sequenz ist unerlässlich für die Initiation der Translation in der Proteinbiosynthese, so dass die bei dem Patienten nachgewiesene Deletion die Synthese des funktionellen GPIX-Proteins verhindert.
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.

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Goldstein, Jayne A. « Novel mutations of COL3A1 resulting in Ehlers-Danlos syndrome type IV and their effect on the folding of type III procollagen / ». Thesis, Connect to this title online ; UW restricted, 1998. http://hdl.handle.net/1773/6316.

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Kuppusamy, Maniselvan. « Prevalence of KCNJ5 mutations and functional impact of a novel KCNJ5-insT149 mutation in aldosterone producing adenoma causing resistant hypertension ». Doctoral thesis, Università degli studi di Padova, 2014. http://hdl.handle.net/11577/3423810.

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Primary aldosteronism (PA), a common form of secondary hypertension, is characterized by an excess autonomous aldosterone secretion. In a percentage ranging from a half to two thirds of the cases it is due to a surgically curable aldosterone-producing adenoma (APA) and in the rest to bilateral adrenal hyperplasia. The molecular mechanisms underlying aldosterone hypersecretion are unknown. Recent evidences suggest that amino acid residue substitutions in the selectivity filter of the Kir3.4 (KCNJ5) potassium channel may cause a constitutive aldosterone secretion from aldosterone-producing adenomas (APA). Such somatic mutations were also found to be associated with higher plasma aldosterone concentrations in the patients with an APA, thereby suggesting a causative role of the mutations in the development of APA and hyperaldosteronism. Hence, we performed a study with the aims to search for KCNJ5 mutations in APA patients referred to two Italian referral centers. Through this search we could also identify a novel KCNJ5-insT149 mutation out of the selectivity filter that was a fully characterized from the electrophysiological and phenotypic standpoint. APA samples (n=195) from consecutive patients with a conclusive diagnosis of APA were screened by high melting resolution curve for KCNJ5 mutations. We found that the mutations occurred in 24.6% of patients. These findings were confirmed by Sanger sequencing. The mRNA content of CYP11B2, but not of CYP11B1, and plasma aldosterone and, accordingly, the lateralization index were higher (P < 0.02) in the APA with the mutation than in the APA without such mutations. A novel c.446insAAC insertion resulting in the mutant protein KCNJ5-insT149 was identified In a patient presenting with severe drug-resistant hypertension. To functionally characterize this novel KCNJ5 channel mutation a mutated cDNA harbouring c.446insAAC insertion was generated by site-directed mutagenesis and transfected in mammalian cells. KCNJ3 cDNA was also transfected into the same cells to reproduce the tetrameric structure of the KCNJ3/KCNJ5 channel. CYP11B1, CYP11B2 and 17α-hydroxylase were localized in the adrenal gland of the mutated APA patient with immunohistochemistry and immunofluorescence. CYP11B2 mRNA levels and aldosterone concentrations were also measured to investigate the impact of the mutation on the secreting activity. By using a whole-cell patch clamp technique and molecular modeling we explored membrane Na+ and Ca2+ currents and created a 3D image of the insT149 KCNJ5 channel. Compared to wild type and mock-transfected HAC15 adrenocortical cells, those expressing the mutant KCNJ5 showed increased CYP11B2 expression and aldosterone secretion. Likewise HEK293 expressing the mutated KCNJ5-insT149 channel exhibited a 2-fold increase in intracellular Na+ and a substantial rise in intracellular Ca2+ caused by activation of voltage-gated Ca2+ channels. Hence, the novel KCNJ5 K+ channel mutation induces abnormal Na+ permeability, membrane depolarization, a rise in cytosolic Ca2+ and increased aldosterone synthesis. Thus, our findings support the concept that channelopathies involving the KCNJ5 K+ channel mechanistically account for constitutive secretion of aldosterone in human APA.
L’ iperaldosteronismo primario (PA) è la causa più frequente di ipertensione secondaria ed è caratterizzato da una secrezione elevata ed autonoma di aldosterone. Le due forme principali sono l’iperplasia surrenalica bilaterale e l’adenoma secernente aldosterone. I meccanismi molecolari alla base dell’ipersecrezione di aldosterone sono tuttora sconosciuti. Tuttavia recenti studi hanno dimostrato che sostituzioni amminoacidiche all’interno del filtro di selettività del canale del potassio Kir3.4 (KCNJ5 possono provocare una secrezione autonoma di aldosterone in adenomi producenti aldosterone (APA). Tali mutazioni somatiche sono associate ad alti livelli plasmatici di aldosterone nei pazienti con APA, suggerendo un ruolo causale di tali mutazioni nello sviluppo di APA e iperaldosteronismo. Pertanto abbiamo condotto uno studio in pazienti affetti da APA afferenti a due centri di riferimento italiani, effettuando lo screening per le mutazioni somatiche di KCNJ5, ed abbiamo individuato e caratterizzato la mutazione KCNJ5-insT149, mai descritta in precedenza. Mediante analisi ad alta risoluzione delle curve di melting per le mutazioni in KCNJ5 sono stati studiati 195 pazienti consecutive con una diagnosi conclusiva di APA. Il 24,6% dei pazienti presentava una mutazione nel filtro di selettività del KCNJ5, tale prevalenza è stata confermata mediante sequenziamento Sanger. Nei pazienti affetti da mutazione di KCNJ5 l’espressione genica di CYP11B2 (29,9 ± 7,4 vs 10,3 ± 3,6, P <0,02), ma non quella di CYP11B1, risultava superiore rispetto ai pazienti non affetti da mutazioni, lo stesso valeva per l’indice di lateralizzazione. In un paziente con ipertensione farmaco-resistente grave è stata identificata l’ inserzione c.446insAAC, che codifica per la proteina mutante KCNJ5-insT149. Per caratterizzare funzionalmente questa nuova mutazione, attaverso mutagenesi sito-diretta, è stato generato un cDNA codificante per il canale KCNJ5 mutato e trasfettato in cellule di mammifero. Il cDNA codificante KCNJ3 è stato transfettato insieme a quello per KCNJ5 in modo da riprodurre la struttura tetramerica del canale KCNJ3/KCNJ5. CYP11B1, CYP11B2 e 17α-idrossilasi sono stati rilevati attraverso tecniche di immunoistochimica e immunofluorescenza nella ghiandola surrenale del paziente. L’espressione genica di CYP11B2 e le concentrazioni di aldosterone sono stati misurati per studiare l'impatto della mutazione sull'attività secernente. Utilizzando la tecnica di “whole-cell patch clamp e modeling molecolare” abbiamo studiato le correnti trans-membrana di Na+ e Ca2+ e generato una immagine 3D del canale insT149 KCNJ5. Rispetto al wild type e alle cellule adrenocorticali HAC15, le cellule transfettate con KCNJ5-insT149 esprimevano alti livelli del gene CYP11B2 e mostravano un’aumentata produzione di aldosterone. Allo stesso modo cellule HEK293 che esprimono il canale KCNJ5-insT149 mutato mostravano un aumento pari a due volte di Na+ intracellulare e un aumento sostanziale di Ca2+ intracellulare in seguito all’ attivazione dei canali del Ca2+ voltaggio-dipendenti. Quindi, la nuova mutazione del canale del K+ KCNJ5 induce un’anomala permeabilità della membrana al Na+, depolarizzazione della membrana, un aumento di Ca2+ intracellulare e aumento della sintesi di aldosterone. I nostri risultati nel complesso supportano il concetto che le canalopatie che coinvolgono il canale del K+ KCNJ5 sono alla base della secrezione costitutiva di aldosterone in pazienti affetti da APA.

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Godfrey, Tony Edward. « Characterisation and mutation spectrum analysis of a novel chinese hamster cell line ». Thesis, Brunel University, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.385070.

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Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański et Angela Hübner. « Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation ». Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-134512.

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Objective: Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. Methods: Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation. Hormonal analyses revealed high ACTH and TSH serum concentrations, low serum cortisol concentration along with normal blood electrolytes. On hydrocortisone supplementation, the disease symptoms disappeared and the child recovered completely. His physical and mental development progresses normally. Genetic analysis disclosed a novel compound heterozygous MC2R mutation p.Leu46fs and p.Val49Met. Conclusion: The heterozygous p.Leu46fs mutation adds to the small number of MC2R nonsense mutations and is the first frameshift mutation within the first transmembrane domain of the receptor. According to molecular modeling the Val49Met mutation results in a structural change of the first transmembrane domain and in a potential novel interaction of the transmembrane domains I and VII
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich

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Holman, Tara Jane. « Characterisation of a novel mutation in the control of germination in Arabidopsis thaliana ». Thesis, University of Nottingham, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435988.

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Bramley, Alison L. « Identification of a novel cytokinesis defective mutation in the fission yeast Schizosaccharomyces pombe ». Thesis, University of Sheffield, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.264443.

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Thorpe, Karen Louise. « Gene structure, phylogeny and mutation analysis of RING3 : a novel MHC-encoded gene ». Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325009.

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Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański et Angela Hübner. « Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation ». Karger, 2008. https://tud.qucosa.de/id/qucosa%3A27575.

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Objective: Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. Methods: Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation. Hormonal analyses revealed high ACTH and TSH serum concentrations, low serum cortisol concentration along with normal blood electrolytes. On hydrocortisone supplementation, the disease symptoms disappeared and the child recovered completely. His physical and mental development progresses normally. Genetic analysis disclosed a novel compound heterozygous MC2R mutation p.Leu46fs and p.Val49Met. Conclusion: The heterozygous p.Leu46fs mutation adds to the small number of MC2R nonsense mutations and is the first frameshift mutation within the first transmembrane domain of the receptor. According to molecular modeling the Val49Met mutation results in a structural change of the first transmembrane domain and in a potential novel interaction of the transmembrane domains I and VII.
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.

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Livres sur le sujet "Novel mutation"

Primacy : A novel. Greenville, TX : Verbitrage, 2011.

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Ikushujō, Hōshasen, dir. Mutation breeding with novel selection techniques : Report of symposium held on July 13-14, 1994. Japan : Institute of Radiation Breeding, NIAR MAFF, 1994.

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Weissbourd, Burt. In velvet : A novel. Los Angeles, CA : A Vireo Book / Rare Bird Books, 2014.

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Wilson, F. Paul. Hosts : A Repairman Jack novel. New York : Forge, 2001.

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Hosts : A Repairman Jack novel. New York : Forge, 2001.

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Godfrey, Tony Edward. Characterisation and mutation spectrum analysis of a novel Chinese hamster cell line. Uxbridge : Brunel University, 1993.

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Ikushujō, Hōshasen, dir. Utilization of novel mutants for development of biological functions in crops : Reported [sic] of symposium held on July 2-3, 1992. Ōmiya-machi, Naka-gun, Ibaraki-ken, Japan : Institute of Radiation Breeding, NIAR MAFF, 1992.

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White horse : A novel. New York : Atria Books, 2012.

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Teranesia : A novel. New York : HarperPrism, 1999.

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Vanti, William B. Identification of a null mutation in a trace amine receptor gene and nine novel G-protein-coupled receptor genes. Ottawa : National Library of Canada, 2003.

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Chapitres de livres sur le sujet "Novel mutation"

Van Ryt, Saskia, Marcus Gallagher et Ian Wood. « A Novel Mutation Operator for Variable Length Algorithms ». Dans AI 2020 : Advances in Artificial Intelligence, 176–88. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-64984-5_14.

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Sudarsan, Dhanya, P. R. Mahalingam et G. Jisha. « A Novel Approach to Represent Detected Point Mutation ». Dans Advances in Computing and Communications, 137–44. Berlin, Heidelberg : Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-22726-4_15.

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Jankowicz-Cieslak, Joanna, Florian Goessnitzer, Bradley J. Till et Ivan L. Ingelbrecht. « Induced Mutagenesis and In Vitro Mutant Population Development in Musa spp. » Dans Efficient Screening Techniques to Identify Mutants with TR4 Resistance in Banana, 3–20. Berlin, Heidelberg : Springer Berlin Heidelberg, 2022. http://dx.doi.org/10.1007/978-3-662-64915-2_1.

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AbstractMutagenesis of in vitro propagated bananas is an efficient method to introduce novel alleles and broaden genetic diversity. Mutations can be induced by treatment of plant cells with chemical mutagens or ionizing radiation. The FAO/IAEA Plant Breeding and Genetics Laboratory established efficient methods for mutation induction of in vitro shoot tips in banana using physical and chemical mutagens as well as methods for the efficient discovery of EMS-induced single nucleotide mutations in targeted genes or amplicons and identification of large genomic changes, including deletions and insertions. Mutagenesis of in vitro propagated tissues requires large populations serving as starting material, and a long process to dissolve genetic mosaics (chimeras) resulting from the mutagenesis of multicellular tissues. However, treating shoot apical meristems of tissue cultured bananas with a mutagen is a commonly used practice for banana mutation breeding programmes, and still the most effective. In our previous studies, we showed that chimeras, unique mutations accumulated in different cells of the plant propagule, could be rapidly removed via isolation of shoot apical meristems and subsequent longitudinal bisection. Further, induced mutations were maintained in mutant plants for several generations. We established such systems for inducing and maintaining both point mutations caused via EMS mutagenesis as well as insertions and deletions caused by gamma irradiation and describe hereafter methods for dose selection, gamma irradiation and chimera dissolution.

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Li, Jin, et G. Mike Makrigiorgos. « s-RT-MELT : A Novel Technology for Mutation Screening ». Dans Methods in Molecular Biology, 207–19. Totowa, NJ : Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60761-759-4_12.

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Okamura, Masachika, et Yoshihiro Hase. « Advances in Mutation Technology to Create Novel Carnation Varieties ». Dans Compendium of Plant Genomes, 119–34. Singapore : Springer Singapore, 2020. http://dx.doi.org/10.1007/978-981-15-8261-5_9.

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Sahota, Amrik, Steve Bye, Ju Chen, Nada H. Khattar, Mitchell S. Turker, Fernando Moro, H. Anne Simmonds, Brian T. Emmerson, Ross B. Gordon et J. A. Tischfield. « Molecular Characterization of a Novel Mutation in APRT Heterozygotes ». Dans Purine and Pyrimidine Metabolism in Man VIII, 675–78. Boston, MA : Springer US, 1995. http://dx.doi.org/10.1007/978-1-4615-2584-4_140.

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Vanèetoviæ, J., M. Simiæ et S. Božinoviæ. « 10. The use of CTM (cycloxydim tolerant maize) mutation in maize weeds control ». Dans Mutagenesis : exploring novel genes and pathways, 203–14. The Netherlands : Wageningen Academic Publishers, 2014. http://dx.doi.org/10.3920/978-90-8686-787-5_10.

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Offei, K., E. Yirenkyi Danquah, R. Owusu-Darko, J. Eleblu et E. Adjei. « 5. Improving food and nutritional security in Ghana through mutation breeding of Sorghum ». Dans Mutagenesis : exploring novel genes and pathways, 125–42. The Netherlands : Wageningen Academic Publishers, 2014. http://dx.doi.org/10.3920/978-90-8686-787-5_5.

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Martinez, Noelia Nunez, Michelle Lipke, Jacqueline Robinson et Bridget Wilcken. « Sialuria : Ninth Patient Described Has a Novel Mutation in GNE ». Dans JIMD Reports, 17–21. Berlin, Heidelberg : Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_117.

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Fontaine, Monique, Anne-Frédérique Dessein, Claire Douillard, Dries Dobbelaere, Michèle Brivet, Audrey Boutron, Mokhtar Zater et al. « A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency ». Dans JIMD Reports, 7–14. Berlin, Heidelberg : Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/8904_2011_94.

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Actes de conférences sur le sujet "Novel mutation"

Cambraia, Amanda, Mario Campos Junior, Fernanda Gubert, Juliana Ferreira Vasques, Marli Pernes da Silva Loureiro, Claudio Heitor Gress, José Mauro Bráz de Lima, Rosalia Mendez Otero et Verônica Marques Zembrzuski. « A novel mutation in the RRM2 domain of TDP-43 in a Brazilian sporadic ALS patient. » Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.486.

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Introduction: Amyotrophic Lateral Sclerosis (ALS) is an adult-onset progressive and fatal neurodegenerative disease that selectively affects upper and lower motor neurons. Death occurs within 3 to 5 years of onset, usually from respiratory complications. Most cases of ALS are sporadic (SALS), but familial forms of the disease (FALS) represent approximately 10% of the cases. More than 30 genes have been associated with ALS and mutations in these genes account for more than a half of all familial cases and about 10% of sporadic cases. One of the most prevalent genes is TARDBP, responsible for approximately 4-6% of FALS and nearly 1-2% of SALS cases. The aim of this study was to perform the screening of known ALS genes, to increase the knowledge of the mutations that circulate in the population from Rio de Janeiro. Methods: The screening of mutations was performed through the Illumina Next Generation Sequencing (NGS) platform with the use of a sequencing panel that contained the TARDBP, SOD1, FUS, VAPB, SMN1 and SMN2 genes. Results: A novel missense mutation (p.Phe194Leu) in exon 5 of the TARDBP gene was found in a sporadic male patient who died at the age of 58 (2018). The mutation, a TTT/CTT substitution, was not detected in any mutation databases and in the literature. In silico analysis of this variant with different algorithms were performed and the results pointed to a probably damaging impact and that the mutation is disease causing. Conclusion: Through the study of the ALS genes by the NGS, we were able to identify a novel TARDBP mutation in a non-familial ALS patient. In addition, this study also increases the number of known TARDBP mutations in ALS patients and our knowledge of the mutations that affect the patients from of population from Rio de Janeiro.

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Derezinska, Anna, et Łukasz Zaremba. « Mutating UML State Machine Behavior with Semantic Mutation Operators ». Dans 14th International Conference on Evaluation of Novel Approaches to Software Engineering. SCITEPRESS - Science and Technology Publications, 2019. http://dx.doi.org/10.5220/0007735003850393.

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Zheng, Weijie, Haohuan Fu et Guangwen Yang. « Targeted Mutation : A Novel Mutation Strategy for Differential Evolution ». Dans 2015 IEEE 27th International Conference on Tools with Artificial Intelligence (ICTAI). IEEE, 2015. http://dx.doi.org/10.1109/ictai.2015.52.

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Gong, Pei, Ruilian Zhao et Zheng Li. « Faster mutation-based fault localization with a novel mutation execution strategy ». Dans 2015 IEEE Eighth International Conference on Software Testing, Verification and Validation Workshops (ICSTW). IEEE, 2015. http://dx.doi.org/10.1109/icstw.2015.7107448.

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Rocha, Isadora Souza, Paola Nabhan Leonel dos Santos, João Guilherme Bochnia Küster, Maria Angélica Vieira Lizama, Vinícius Riegel Giugno, Hélio Afonso Ghizoni Teive et Salmo Raskin. « Pelizaeus-Merzbacher Disease with Novel Variant : Case Report ». Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.672.

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Context: Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive hypomyelinating leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene, associated with myelin sheath development and stability. The result is a broad spectrum of clinical phenotypes. Diagnosis is confirmed by genetic testing. Clinical features include hypotonia followed by progressive spasticity, nystagmus, ataxia and cognitive impairment. Males are more affected. Females are asymptomatic or present milder symptoms. Most cases arise from duplications, point and null mutations. Null mutations are associated with milder phenotypes. Brain Magnetic Resonance Imaging (MRI) may reveal hypomyelination. There is no disease modifying treatment for PMD. We aim to present the case of a woman with a novel variant of the PLP1 gene. Case report: A 38-year-old female presented with 23 years of progression of upper limb tremor, speech impairment, lower limb rigidity and urinary incontinence. She reported abnormal development of reading and writing skills. She had a brother with cognitive impairment, delayed motor development, gait disorder and generalized tonic-clonic seizures; and a sister with upper limb tremor, dysarthria and behavioral disorder. Hypomyelination was detected on brain MRI. Complete exome sequencing detected a novel likely pathogenic variant of PLP1 gene: ChrX(GRCh37):NC_000023.10:g.103041651del:NM _000533.3:c449del, p.Asp150AlafsTer10, heterozygous. Conclusions: The patient’s case resembles a milder form of PMD. This is supported by literature linking deletions and female sex to milder phenotypes. In 20 to 40% of cases with suggestive clinical findings, no PLP1 mutation is found. New studies are needed to identify other variants associated with PMD.

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Islam, Mohiul, Nawwaf Kharma et Peter Grogono. « Expansion : A Novel Mutation Operator for Genetic Programming ». Dans 10th International Joint Conference on Computational Intelligence. SCITEPRESS - Science and Technology Publications, 2018. http://dx.doi.org/10.5220/0006927800550066.

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Doush, Iyad Abu, Mohammed A. Awadallah et Mohammed Azmi Al-Betar. « A Novel Essential Mutation Method for Evolutionary Algorithms ». Dans 2022 2nd International Conference on Computing and Machine Intelligence (ICMI). IEEE, 2022. http://dx.doi.org/10.1109/icmi55296.2022.9873805.

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Chen, Lei. « Particle swarm optimization with a novel mutation operator ». Dans 2011 International Conference on Mechatronic Science, Electric Engineering and Computer (MEC). IEEE, 2011. http://dx.doi.org/10.1109/mec.2011.6025626.

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Takarada, Tohru, Yuzo Hamaguchi, Masako Ogawa et Mizuo Maeda. « Novel Affinity Microchip Electrophoresis for Gene Mutation Assay ». Dans 2002 International Conference on Solid State Devices and Materials. The Japan Society of Applied Physics, 2002. http://dx.doi.org/10.7567/ssdm.2002.lc-1-2.

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Slanetz, Alfred, Walter Barry, Benjamin Schwarz, Farzonai Muzaffar, Ryan Campbell et Abenezer Abera. « 183 Cancer-mutation-specific T cells : novel immunotherapy approach for low mutational burden patients ». Dans SITC 37th Annual Meeting (SITC 2022) Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jitc-2022-sitc2022.0183.

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Rapports d'organisations sur le sujet "Novel mutation"

Chen, Chung Hsuan. Novel Mass Spectrometry Mutation screening for contaminant Impact Analysis. Office of Scientific and Technical Information (OSTI), juin 1999. http://dx.doi.org/10.2172/829891.

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Cehn, Winston Chumg-Hsuan, et Kai-Lin Lee. Novel Mass Spectrometry Mutation Screening for Contaminant Impact Analysis. Office of Scientific and Technical Information (OSTI), juin 2000. http://dx.doi.org/10.2172/829892.

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Chen, Winston Chung-Hsuan, et Kai-Lin Lee. Novel Mass Spectrometry Mutation Screening for Contaminant Impact Analysis. Office of Scientific and Technical Information (OSTI), septembre 2000. http://dx.doi.org/10.2172/829893.

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Chen, C. H. Novel mass spectrometry mutation screening for contaminant impact analysis. 1998 annual progress report. Office of Scientific and Technical Information (OSTI), juin 1998. http://dx.doi.org/10.2172/13461.

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Minchev, Danail, Nikolay Popov, Veselin Petrov, Ivan Minkov et Tihomir Vachev. Identification of a Novel Mitochondrial Mutation in the Cytochrome C Oxidase III Gene in Children with Autistic Sprectrum Disorders Using Next Generation RNA-Sequencing. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, février 2021. http://dx.doi.org/10.7546/crabs.2021.02.09.

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Yeung, Anthony T. Detection of Mutations Using a Novel Endonuclease. Fort Belvoir, VA : Defense Technical Information Center, juin 1998. http://dx.doi.org/10.21236/adb238444.

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Gelb, Jr., Jack, Yoram Weisman, Brian Ladman et Rosie Meir. Identification of Avian Infectious Brochitis Virus Variant Serotypes and Subtypes by PCR Product Cycle Sequencing for the Rational Selection of Effective Vaccines. United States Department of Agriculture, décembre 2003. http://dx.doi.org/10.32747/2003.7586470.bard.

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Objectives 1. Determine the serotypic identities of 40 recent IBV isolates from commercial chickens raised in the USA and Israel. 2. Sequence all IBV field isolates using PCR product cycle sequencing and analyze their S 1 sequence to detennine their homology to other strains in the Genbank and EMBL databases. 3. Select vaccinal strains with the highest S 1 sequence homology to the field isolates and perform challenge of immunity studies in chickens in laboratory trials to detennine level of protection afforded by the vaccines. Background Infectious bronchitis (IB) is a common, economically important disease of the chicken. IB occurs as a respiratory form, associated with airsacculitis, condemnation, and mortality of meat-type broilers, a reproductive form responsible for egg production losses in layers and breeders, and a renal form causing high mortality in broilers and pullets. The causative agent is avian coronavirus infectious bronchitis virus (IBV). Replication of the virus' RNA genome is error-prone and mutations commonly result. A major target for mutation is the gene encoding the spike (S) envelope protein used by the virus to attach and infect the host cell. Mutations in the S gene result in antigenic changes that can lead to the emergence of variant serotypes. The S gene is able to tolerate numerous mutations without compromising the virus' ability to replicate and cause disease. An end result of the virus' "flexibility" is that many strains of IBV are capable of existing in nature. Once formed, new mutant strains, often referred to as variants, are soon subjected to immunological selection so that only the most antigenically novel variants survive in poultry populations. Many novel antigenic variant serotypes and genotypes have been isolated from commercial poultry flocks. Identification of the field isolates of IBV responsible for outbreaks is critical for selecting the appropriate strain(s) for vaccination. Reverse transcriptase polymerase chain reaction (RT-PCR) of the Sl subunit of the envelope spike glycoprotein gene has been a common method used to identify field strains, replacing other time-consuming or less precise tests. Two PCR approaches have been used for identification, restriction fragment length polymorphism (RFLP) and direct automated cycle sequence analysis of a diagnostically relevant hypervariab1e region were compared in our BARD research. Vaccination for IB, although practiced routinely in commercial flocks, is often not protective. Field isolates responsible for outbreaks may be unrelated to the strain(s) used in the vaccination program. However, vaccines may provide varying degrees of cross- protection vs. unrelated field strains so vaccination studies should be performed. Conclusions RFLP and S1 sequence analysis methods were successfully performed using the field isolates from the USA and Israel. Importantly, the S1 sequence analysis method enabled a direct comparison of the genotypes of the field strains by aligning them to sequences in public databases e.g. GenBank. Novel S1 gene sequences were identified in both USA and Israel IBVs but greater diversity was observed in the field isolates from the USA. One novel genotype, characterized in this project, Israel/720/99, is currently being considered for development as an inactivated vaccine. Vaccination with IBV strains in the US (Massachusetts, Arkansas, Delaware 072) or in Israel (Massachusetts, Holland strain) provided higher degrees of cross-protection vs. homologous than heterologous strain challenge. In many cases however, vaccination with two strains (only studies with US strains) produced reasonable cross-protection against heterologous field isolate challenge. Implications S1 sequence analysis provides numerical similarity values and phylogenetic information that can be useful, although by no means conclusive, in developing vaccine control strategies. Identification of many novel S1 genotypes of IBV in the USA is evidence that commercial flocks will be challenged today and in the future with strains unrelated to vaccines. In Israel, monitoring flocks for novel IBV field isolates should continue given the identification of Israel/720/99, and perhaps others in the future. Strains selected for vaccination of commercial flocks should induce cross- protection against unrelated genotypes. Using diverse genotypes for vaccination may result in immunity against unrelated field strains.

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Whitham, Steven A., Amit Gal-On et Tzahi Arazi. Functional analysis of virus and host components that mediate potyvirus-induced diseases. United States Department of Agriculture, mars 2008. http://dx.doi.org/10.32747/2008.7591732.bard.

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The mechanisms underlying the development of symptoms in response to virus infection remain to be discovered in plants. Insight into symptoms induced by potyviruses comes from evidence implicating the potyviral HC-Pro protein in symptom development. In particular, recent studies link the development of symptoms in infected plants to HC-Pro's ability to interfere with small RNA metabolism and function in plant hosts. Moreover, mutation of the highly conserved FRNK amino acid motif to FINK in the HC-Pro of Zucchini yellow mosaic virus (ZYMV) converts a severe strain into an asymptomatic strain, but does not affect virus accumulation in cucurbit hosts. The ability of this FINK mutation to uncouple symptoms from virus accumulation creates a unique opportunity to study symptom etiology, which is usually confounded by simultaneous attenuation of both symptoms and virus accumulation. Our goal was to determine how mutations in the conserved FRNK motif affect host responses to potyvirus infection in cucurbits and Arabidopsis thaliana. Our first objective was to define those amino acids in the FRNK motif that are required for symptoms by mutating the FRNK motif in ZYMV and Turnip mosaic virus (TuMV). Symptom expression and accumulation of resulting mutant viruses in cucurbits and Arabidopsis was determined. Our second objective was to identify plant genes associated with virus disease symptoms by profiling gene expression in cucurbits and Arabidopsis in response to mutant and wild type ZYMV and TuMV, respectively. Genes from the two host species that are differentially expressed led us to focus on a subset of genes that are expected to be involved in symptom expression. Our third objective was to determine the functions of small RNA species in response to mutant and wild type HC-Pro protein expression by monitoring the accumulation of small RNAs and their targets in Arabidopsis and cucurbit plants infected with wild type and mutant TuMV and ZYMV, respectively. We have found that the maintenance of the charge of the amino acids in the FRNK motif of HC-Pro is required for symptom expression. Reduced charge (FRNA, FRNL) lessen virus symptoms, and maintain the suppression of RNA silencing. The FRNK motif is involved in binding of small RNA species including microRNAs (miRNA) and short interfering RNAs (siRNA). This binding activity mediated by the FRNK motif has a role in protecting the viral genome from degradation by the host RNA silencing system. However, it also provides a mechanism by which the FRNK motif participates in inducing the symptoms of viral infection. Small RNA species, such as miRNA and siRNA, can regulate the functions of plant genes that affect plant growth and development. Thus, this binding activity suggests a mechanism by which ZYMVHC-Pro can interfere with plant development resulting in disease symptoms. Because the host genes regulated by small RNAs are known, we have identified candidate host genes that are expected to play a role in symptoms when their regulation is disrupted during viral infections. As a result of this work, we have a better understanding of the FRNK amino acid motif of HC-Pro and its contribution to the functions of HC-Pro, and we have identified plant genes that potentially contribute to symptoms of virus infected plants when their expression becomes misregulated during potyviral infections. The results set the stage to establish the roles of specific host genes in viral pathogenicity. The potential benefits include the development of novel strategies for controlling diseases caused by viruses, methods to ensure stable expression of transgenes in genetically improved crops, and improved potyvirus vectors for expression of proteins or peptides in plants.

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Chen, Zhuo. Screening for Novel Germline Rare Mutations Associated with Aggressive Prostate Cancer. Fort Belvoir, VA : Defense Technical Information Center, octobre 2014. http://dx.doi.org/10.21236/ada613447.

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Li, Li, Joseph Burger, Nurit Katzir, Yaakov Tadmor, Ari Schaffer et Zhangjun Fei. Characterization of the Or regulatory network in melon for carotenoid biofortification in food crops. United States Department of Agriculture, avril 2015. http://dx.doi.org/10.32747/2015.7594408.bard.

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The general goals of the BARD research grant US-4423-11 are to understand how Or regulates carotenoid accumulation and to reveal novel strategies for breeding agricultural crops with enhanced β-carotene level. The original objectives are: 1) to identify the genes and proteins in the Or regulatory network in melon; 2) to genetically and molecularly characterize the candidate genes; and 3) to define genetic and functional allelic variation of these genes in a representative germplasm collection of the C. melo species. Or was found by the US group to causes provitamin A accumulation in chromoplasts in cauliflower. Preliminary genetic study from the Israeli group revealed that the melon Or gene (CmOr) completely co-segregated with fruit flesh color in a segregating mapping population and in a wide melon germplasm collection, which set the stage for the funded research. Major conclusions and achievements include: 1). CmOris proved to be the gene that controls melon fruit flesh color and represents the previously described gflocus in melon. 2). Genetic and molecular analyses of CmOridentify and confirm a single SNP that is responsible for the orange and non-orange phenotypes in melon fruit. 3). Alteration of the evolutionarily conserved arginine in an OR protein to both histidine or alanine greatly enhances its ability to promote carotenoid accumulation. 4). OR promotes massive carotenoid accumulation due to its dual functions in regulating both chromoplast biogenesis and carotenoid biosynthesis. 5). A bulk segregant transcriptome (BSRseq) analysis identifies a list of genes associated with the CmOrregulatory network. 6). BSRseq is proved to be an effective approach for gene discovery. 7). Screening of an EMS mutation library identifies a low β mutant, which contains low level of carotenoids due to a mutation in CmOrto produce a truncated form of OR protein. 8). low β exhibits lower germination rate and slow growth under salt stress condition. 9). Postharvest storage of fruit enhances carotenoid accumulation, which is associated with chromoplast development. Our research uncovers the molecular mechanisms underlying the Or-regulated high level of carotenoid accumulation via regulating carotenoidbiosynthetic capacity and storage sink strength. The findings provide mechanistic insights into how carotenoid accumulation is controlled in plants. Our research also provides general and reliable molecular markers for melon-breeding programs to select orange varieties, and offers effective genetic tools for pro-vitamin A enrichment in other important crops via the rapidly developed genome editing technology. The newly discovered low β mutant could lead to a better understanding of the Or gene function and its association with stress response, which may explain the high conservation of the Or gene among various plant species.

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