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Thèses sur le sujet « Compound mutation »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 31 juillet 2025

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1

Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański, and 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 norm

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Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański, and 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 norm

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MOROSINI, SARA. "Integrated genetic diagnosis of neurofibromatosis type 1 (NF1) and molecular characterization of one case of compound heterozygosity." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/83314.

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Genetic analysis of Neurofibromatosis type 1 (NF1) may facilitate the identification of patients in early phases of the disease. Here, we present an overview of our diagnostic research spanning the last eleven years, with a focus on the description of 225 NF1 mutations, 126 of which are novel, found in a series of 605 patients (513 unrelated) in Italy. Between 2003 and 2013, 443 unrelated patients were profiled by DHPLC analysis of 60 amplicons derived from genomic NF1 DNA and subsequent sequencing of heterozygotic PCR products. In addition, a subset of patients was studied by MLPA to identify

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MOLLA, DAVID. "INVESTIGATION ON PHARMACOLOGICAL AND AGE-INDUCED MODULATIONS OF CARDIAC PEACEMAKING AND ELECTROPHYSIOLOGICAL CHARACTERIZATION OF A COMPOUND MUTATION IN THE CARDIAC SODIUM CHANNEL." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/816791.

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Abstract: During my Ph.D. internship at the ‘PaceLab’, I have been involved in several scientific projects that, although involving different experimental models and with different aims, share the common background of cardiac pacemaker modulation and ion channels activity. In this sec-tion are briefly described the three main research lines in which I took part; a more complete discussion of the data will be presented later in this thesis. Notably, by the time I am writing this proposition, two of these studies have been submitted to scientific journals. - Identification of the bradyc

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GEETA, GEETA. "In vitro and in vivo characterization of resistance to lorlatinib treatment in ALK mutated cancers." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2019. http://hdl.handle.net/10281/241123.

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La terapia personalizzata ha cambiato lo scenario clinico dei tumori ALK-positivi. Tuttavia, la resistenza farmacologica rimane un ostacolo importante cui far fronte. Lorlatinib è un farmaco di terza generazione che inibisce la maggior parte dei mutanti di ALK resistenti agli attuali inibitori. In questo studio sono state utilizzate in vitro e in vivo linee cellulari resistenti a lorlatinib derivanti da linfoma anaplastico a grandi cellule (ALCL), carcinoma polmonare non a piccole cellule (NSCLC) e neuroblastoma, allo scopo di studiare i meccanismi che guidano l'acquisizione della resistenza.

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6

Polack, Natalie Pia. "Free radical damage to DNA and related compounds." Thesis, University of York, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.261114.

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Petrie, Kirsten. "Novel mutations causing fibrodysplasia ossificans progressiva and potential therapeutic compounds." Thesis, University of Oxford, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.711611.

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8

Davidson, Bruce Paul, University of Western Sydney, and School of Biological Sciences. "Compound mutations in the mammalian EGFR signalling pathway affect epidermal development, growth and viability." THESIS_XXXX_SBS_Davidson_B.xml, 1997. http://handle.uws.edu.au:8081/1959.7/518.

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The widespread expression of polypeptide growth factors from the earliest stages of embryonic development through to mature issues in the adult organism suggests an involvement in a reiterated developmental process affecting the underlying cellular growth and differentiation of many tissues. The hair follicle has taken on increased significance with the observation that many genetic mutations in these peptide growth factor genes affect its development. The targeted disruption of genes encoding members of the EpidermalGrowth Factor (EGF) and Fibroblast Growth Factor (FGF) families in the mouse

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Davidson, Bruce Paul. "Compound mutations in the mammalian EGFR signalling pathway affect epidermal development, growth and viability /." View thesis, 1997. http://library.uws.edu.au/adt-NUWS/public/adt-NUWS20030826.115144/index.html.

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Harnevik, Lotta. "Molecular genetic studies on cystinuria." Doctoral thesis, Linköping : Univ, 2007. http://www.bibl.liu.se/liupubl/disp/disp2007/med1034s.pdf.

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CAUCCI, Sara. "Replicative capacity and phenotypic sensitivity to antiretroviral compounds of HIV-1 strains from recently infected and chronically treated patients." Doctoral thesis, Università Politecnica delle Marche, 2020. http://hdl.handle.net/11566/273393.

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La terapia antiretrovirale purtroppo può indurre la selezione di ceppi virali resistenti ai farmaci, che possono essere trasmessi ad altre persone. In questo studio è stato messo a punto un saggio fenotipico per comprendere la dinamica evolutiva delle resistenze trasmesse, confrontando la capacità replicativa (RC), e quindi il potenziale epidemico, conferiti dai geni della proteasi (PR) e della trascrittasi inversa (RT) di ceppi virali provenienti da pazienti con infezione recente. Inoltre il saggio fenotipico è stato impiegato per studiare l'influenza del background genetico del gene dell’int

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12

Monteiro, Nelson Cristóvão de Oliveira. "A novel MYO7A compound heterozygous mutation in an USH1 portuguese patiant : a translational multidisciplinary study." Master's thesis, 2015. http://hdl.handle.net/10316/31069.

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Dissertação de mestrado em Biotecnologia Farmacêutica, apresentada à Faculdade de Farmácia da Universidade de Coimbra<br>Usher syndrome is an autosomal recessive disease characterized by the association of retinitis pigmentosa and sensorineural hearing loss with or without vestibular dysfunction. Prevalence for this disease was estimated to be 3-4 per 100,000 individuals. Distinguished by clinical features, Usher syndrome can be divided in three types, where Usher syndrome type 1 is the most severe form. Causing disease mutations were reported in 10 genes, 6 of them associated to Usher syndro

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Lee, HH. "The mutagenic activity of oxazolopyridine compounds." Thesis, 2018. https://eprints.utas.edu.au/30169/1/Lee_H_whole_thesis.pdf.

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Planar heterocycles such as benzoxazoles are biologically active and often used as a scaffold for drug discovery. However, due to some toxicities associated with this group of compounds, analogues of benzoxazoles such as benzothiazoles, benzimidazoles and more recently, the oxazolopyridines have been developed in medicinal chemistry programs. The oxazolopyridine is an easy and versatile scaffold to synthesise as it is stable and has many sites for the addition of functional groups. The oxazolopyridine scaffold is also highly polar, contributing to improved target interaction in biological syst

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14

Chen, Li-Ping, and 陳立蘋. "Genotoxicity Assessment of AirborneSemivolatile Organic Compounds Using Mutatox." Thesis, 2003. http://ndltd.ncl.edu.tw/handle/70815178095494795163.

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碩士<br>國立成功大學<br>環境工程學系碩博士班<br>91<br>Seven airborne samples with varying degrees of contamination. The airborne samples of both particle phase and gas phase of SVOCs were collected using high-volume samplers (PS-1) to asses the genotoxicity of airbone SVOCs. Air samples at seven sites / environments, including a motorcycle tunnel, a gasoline engine tunnel, and a diesel bus parking lot, an urban site in Tainan, plus three incense sticks, were collelcted for genotoxicity assessment using Mutatox test both with and without activation with S-9. Ambient air at traffic sites, i.e. the gasoline eng

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Davidson, Bruce P. "Compound mutations in the mammalian EGFR signalling pathway affect epidermal development, growth and viability." Thesis, 1997. http://handle.uws.edu.au:8081/1959.7/518.

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The widespread expression of polypeptide growth factors from the earliest stages of embryonic development through to mature issues in the adult organism suggests an involvement in a reiterated developmental process affecting the underlying cellular growth and differentiation of many tissues. The hair follicle has taken on increased significance with the observation that many genetic mutations in these peptide growth factor genes affect its development. The targeted disruption of genes encoding members of the EpidermalGrowth Factor (EGF) and Fibroblast Growth Factor (FGF) families in the mouse

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16

Liao, Hsien-Feng, and 廖顯鋒. "Mutation Analysis of The Cancer-related Gene and Development of The Anti-cancer Compounds with Epigenetics Regulation." Thesis, 2016. http://ndltd.ncl.edu.tw/handle/64mv9v.

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Chang, Yu-Hsiang, and 張裕享. "Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/95220452554184031651.

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博士<br>國立中山大學<br>生物科學系研究所<br>98<br>Missense, nonsense, and frameshift mutations in the human anion exchanger 1 (AE1) have been associated with inherited distal renal tubular acidosis and hereditary spherocytosis. These two disorders are almost always mutually exclusive. However, we have recently found an unusual exception, i.e, a patient with complete distal renal tubular acidosis and severe hereditary spherocytosis. DNA sequencing revealed a novel mutation AE1 E522K (Band 3 Kaohsiung) combined with AE1 G701D mutation in this patient. We hypothesize these AE1 mutations cause these two disorders

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潘佩瑩. "A novel synthetic compound PT262 in overcoming the drug resistance of EGFR mutations of non-small cell lung cancer." Thesis, 2017. http://ndltd.ncl.edu.tw/handle/ka5ge6.

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碩士<br>國立交通大學<br>生物資訊及系統生物研究所<br>105<br>Drug resistance has become bottleneck in clinical cancer therapy of non-small cell lung carcinoma (NSCLC) patients. The mutations of epidermal growth factor receptor (EGFR) on exon 19 deletion and exon 21 point mutation are respond well to the first and second generation EGFR tyrosine kinase inhibitors (EGFR-TKIs) such as Gefitinib and Erlotinib for NSCLC therapy; however, patients acquired the T790M mutation of EGFR will induce drug resistance. In addition, cancer stemness properties are also a pivotal factor of drug resistance in NSCLC. Accordingly, dev

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Garcia, Ana Sofia Artur Carreira de Sousa. "Rescue of cystathionine ß -synthase R>C variants by thiol compounds: accessibility of affected residues as a key player." Master's thesis, 2015. http://hdl.handle.net/10451/24982.

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Tese de mestrado, Ciências Biofarmacêuticas, Universidade de Lisboa, Faculdade de Farmácia, 2016<br>Among the 20 amino acids incorporated into a polypeptide chain during protein synthesis, arginine (Arg; R) is the one with the highest relative mutability. In genetic diseases, almost 15% of missense mutations occur in Arg residues and more than half of these missense mutations are Arg to cysteine (Cys; C) substitutions. The Arg residue is more prone to mutations due to the fact that this residue can be coded by six different codons, four of them containing CpG dinucleotides, a preferential site

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Pyziak, Karolina. "Rozwój metod i modeli badawczych umożliwiających selekcję oraz potwierdzenie specyficzności i mechanizmu działania innowacyjnych związków małocząsteczkowych celujących w białka kompleksu SWI/SNF." Praca doktorska, 2022. https://ruj.uj.edu.pl/xmlui/handle/item/285651.

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