Готові списки джерел за темами / ANKRD11 / Статті в журналах

Статті в журналах з теми "ANKRD11"

Щоб переглянути інші типи публікацій з цієї теми, перейдіть за посиланням: ANKRD11.
Автор: Grafiati
Опубліковано: 10 грудня 2022
Оновлено: 29 січня 2023

Оформте джерело за APA, MLA, Chicago, Harvard та іншими стилями

Оберіть тип джерела:

Ознайомтеся з топ-50 статей у журналах для дослідження на тему "ANKRD11".

Біля кожної праці в переліку літератури доступна кнопка «Додати до бібліографії». Скористайтеся нею – і ми автоматично оформимо бібліографічне посилання на обрану працю в потрібному вам стилі цитування: APA, MLA, «Гарвард», «Чикаго», «Ванкувер» тощо.

Також ви можете завантажити повний текст наукової публікації у форматі «.pdf» та прочитати онлайн анотацію до роботи, якщо відповідні параметри наявні в метаданих.

Переглядайте статті в журналах для різних дисциплін та оформлюйте правильно вашу бібліографію.

1

Zhao, Youshan, Feng Xu, Juan Guo, Sida Zhao, Chunkang Chang, and Xiao Li. "Dysregulation of ANKRD11 Influenced Hematopoisis By Histone Acetylation-Mediated Gene Expression in Myelodysplastic Syndrome." Blood 128, no. 22 (December 2, 2016): 4292. http://dx.doi.org/10.1182/blood.v128.22.4292.4292.

Повний текст джерела
Анотація:
Abstract Background and Object In addition to histone deacetylation, the importance of histone over-acetylation induced oncogene transcription in initiation and progression of myelodysplastic syndrome (MDS) has been proposed recently. Our previous whole-exome sequencing identified a new somatic mutation, ANKRD11, an important factor in histone acetylation regulation. Its roles in MDS pathophysiology need to be clarified. Methods The next generation target sequencing (Including ANKRD11) was carried out in 320 patients with MDS using the MiSeq Benchtop Sequencer. ANKRD11 mRNA expression in bone marrow of MDS was measured by real-time PCR. Loss and gain of function assay were carried out in myeloid cell lines K562, MEG-01£¬or SKM-1 to observe the influence on cell proliferation and differentiation . The levels of histone acetylation at H3 and H4 were detected by Western blot. Results Target sequencing in a cohort of 320 MDS patients identified 14 of ANKRD11 mutations (4.38%, Fig.1), which were confirmed by Sanger sequencing. Meanwhile, no ANKRD11 mutations in 100 normal controls were defined. ANKRD11 mutations occurred frequently in exons 10 and 9. The mRNA expression levels of ANKRD11 were significantly decreased in MDS patients, especially in ANKRD11mutant patients (Fig.2). ANKRD11 knockdown in K562 and MEG-1 resulted in growth inhibition, cell cycle arrest and erythroid/megakaryocytic differentiation retardant. In MDS cell line SKM-1, the arrested differentiation was rescued by over-expression of ANKRD11. Consistent with a role for ANKRD11 in histone acetylation, ANKRD11 KD increased acetylation of histones H3 and H4 at H3K14 and H4K5 and resulted in the upregulation of genes involved in differentiation inhibilation (SOX6, P21, et al). Finally, the ANKRD11 KD-mediated influence on cell proliferation and differentiation were reversed by inhibiting histone acetyltransferase activity. Conclusion Our assay defined that ANKRD11 was a crucial chromatin regulator that suppress histone acetylation and then decrease gene expression during myeloid differentiation, providing a likely explanation for its role in MDS pathogenesis. This study further support histone acetylase inhibitor as a potential treatment in MDS. Figure ANKRD11mutation distribution (a) and coexist with other mutations (b). Figure. ANKRD11mutation distribution (a) and coexist with other mutations (b). Figure The mRNA expression levels of ANKRD11in our MDS (A, C) subset and GEO data (B). Figure. The mRNA expression levels of ANKRD11in our MDS (A, C) subset and GEO data (B). Changes of histone acetylation in ANKRD11-KD cell line (MEG-01). ANKRD11 KD significantly increased acetylation of histones H3 and H4 at H3K14 and H4K5. Changes of histone acetylation in ANKRD11-KD cell line (MEG-01). ANKRD11 KD significantly increased acetylation of histones H3 and H4 at H3K14 and H4K5. Disclosures No relevant conflicts of interest to declare.
Стилі APA, Harvard, Vancouver, ISO та ін.
2

Gao, Fenqi, Xiu Zhao, Bingyan Cao, Xin Fan, Xiaoqiao Li, Lele Li, Shengbin Sui, Zhe Su, and Chunxiu Gong. "Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature." Journal of Personalized Medicine 12, no. 3 (March 5, 2022): 407. http://dx.doi.org/10.3390/jpm12030407.

Повний текст джерела
Анотація:
KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves multiple systems and is associated with variations in the ankyrin repeat domain 11 (ANKRD11) gene. We report the clinical and genetic data for 13 Chinese KBGS patients diagnosed by genetic testing and retrospectively analyse the genotypes and phenotypes of previously reported KBGS patients. The 13 patients in this study had heterozygous variations in the ANKRD11 gene, including seven frameshift variations, three nonsense variations, and three missense variations. They carried 11 variation sites, of which eight were previously unreported. The clinical phenotype analysis of these 13 patients and 240 previously reported patients showed that the occurrence rates of craniofacial anomalies, dental anomalies, global developmental delays, intellectual disability/learning difficulties, limb anomalies, and behavioural anomalies were >70%. The occurrence rates of short stature, delayed bone age, and spinal vertebral body anomalies were >50%. The frequency of global developmental delays and intellectual disability/learning difficulties in patients with truncated ANKRD11 gene variation was higher than that in patients with missense variation in the ANKRD11 gene (p < 0.05). Collectively, this study reported the genotypic and phenotypic characteristics of the largest sample of KBGS patients from China and discovered eight new ANKRD11 gene variations, which enriched the variation spectrum of the ANKRD11 gene. Variation in the ANKRD11 gene mainly caused craniofacial anomalies, growth and developmental anomalies, skeletal system anomalies, and nervous system anomalies. Truncated variation in the ANKRD11 gene is more likely to lead to global growth retardation and intellectual disability/learning difficulties than missense variation in ANKRD11.
Стилі APA, Harvard, Vancouver, ISO та ін.
3

Bestetti, Ilaria, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, et al. "Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome." International Journal of Molecular Sciences 23, no. 11 (May 25, 2022): 5912. http://dx.doi.org/10.3390/ijms23115912.

Повний текст джерела
Анотація:
KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using a multi-testing genomic approach, including gene sequencing, Chromosome Microarray Analysis (CMA), and RT-qPCR gene expression assay, we searched for pathogenic alterations in ANKRD11. A molecular diagnosis was obtained in 22 out of 33 patients (67%). ANKRD11 sequencing disclosed pathogenic or likely pathogenic variants in 18 out of 33 patients. CMA identified one full and one terminal ANKRD11 pathogenic deletions, and one partial duplication and one intronic microdeletion, with both possibly being pathogenic. The pathogenic effect was established by RT-qPCR, which confirmed ANKRD11 haploinsufficiency only for the three deletions. Moreover, RT-qPCR applied to six molecularly unsolved KBGS patients identified gene downregulation in a clinically typical patient with previous negative tests, and further molecular investigations revealed a cryptic deletion involving the gene promoter. In conclusion, ANKRD11 pathogenic variants could also involve the regulatory regions of the gene. Moreover, the application of a multi-test approach along with the innovative use of RT-qPCR improved the diagnostic yield in KBGS suspected patients.
Стилі APA, Harvard, Vancouver, ISO та ін.
4

Parenti, Ilaria, Mark B. Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, et al. "ANKRD11 variants: KBG syndrome and beyond." Clinical Genetics 100, no. 2 (May 14, 2021): 187–200. http://dx.doi.org/10.1111/cge.13977.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
5

Kojić, Snežana. "MARP Protein Family: A Possible Role in Molecular Mechanisms of Tumorigenesis." Journal of Medical Biochemistry 29, no. 3 (July 1, 2010): 157–64. http://dx.doi.org/10.2478/v10011-010-0024-9.

Повний текст джерела
Анотація:
MARP Protein Family: A Possible Role in Molecular Mechanisms of TumorigenesisThe MARP (muscle ankyrin repeat protein) family comprises three structurally similar proteins: CARP/Ankrd1, Ankrd2/Arpp and DARP/Ankrd23. They share four conserved copies of 33-residue ankyrin repeats and contain a nuclear localization signal, allowing the sorting of MARPs to the nucleus. They are found both in the nucleus and in the cytoplasm of skeletal and cardiac muscle cells, suggesting that MARPs shuttle within the cell enabling them to play a role in signal transduction in striated muscle. Expression of MARPs is altered under different pathological conditions. In skeletal muscle, CARP/Ankrd1 and Ankrd2/Arpp are up-regulated in muscle in patients suffering from Duchene muscular dystrophy, congenital myopathy and spinal muscular atrophy. Mutations inAnkrd1gene (coding CARP/Ankrd1) were identified in dilated and hypertrophic cardiomyopathies. Altered expression of MARPs is also observed in rhabdomyosarcoma, renal oncocytoma and ovarian cancer. In order to functionally characterize MARP family members CARP/Ankrd1 and Ankrd2/Arpp, we have found that both proteins interact with the tumor suppressor p53 bothin vivoandin vitroand that p53 up-regulates their expression. Our results implicate the potential role of MARPs in molecular mechanisms relevant to tumor response and progression.
Стилі APA, Harvard, Vancouver, ISO та ін.
6

Neilsen, P. M., K. M. Cheney, C. W. Li, J. D. Chen, J. E. Cawrse, R. B. Schulz, J. A. Powell, R. Kumar, and D. F. Callen. "Identification of ANKRD11 as a p53 coactivator." Journal of Cell Science 121, no. 21 (October 7, 2008): 3541–52. http://dx.doi.org/10.1242/jcs.026351.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
7

Kim, Hyo Jeong, Eunhae Cho, Jong Bum Park, Woo Young Im, and Hyon J. Kim. "A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion." European Journal of Medical Genetics 58, no. 2 (February 2015): 86–94. http://dx.doi.org/10.1016/j.ejmg.2014.11.003.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
8

Youngs, Erin L., Jessica A. Hellings, and Merlin G. Butler. "ANKRD11 gene deletion in a 17-year-old male." Clinical Dysmorphology 20, no. 3 (July 2011): 170–71. http://dx.doi.org/10.1097/mcd.0b013e328346f6ae.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
9

Lim, Sue Ping, Nick C. Wong, Rachel J. Suetani, Kristen Ho, Jane Lee Ng, Paul M. Neilsen, Peter G. Gill, Raman Kumar, and David F. Callen. "Specific-site methylation of tumour suppressor ANKRD11 in breast cancer." European Journal of Cancer 48, no. 17 (November 2012): 3300–3309. http://dx.doi.org/10.1016/j.ejca.2012.03.023.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
10

Sacharow, Stephanie, Deling Li, Yao Shan Fan, and Mustafa Tekin. "Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome." American Journal of Medical Genetics Part A 158A, no. 3 (February 3, 2012): 547–52. http://dx.doi.org/10.1002/ajmg.a.34436.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
11

Kutkowska-Kaźmierczak, Anna, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, et al. "Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3." Genes 12, no. 8 (August 17, 2021): 1257. http://dx.doi.org/10.3390/genes12081257.

Повний текст джерела
Анотація:
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a mutation in the ANKRD11 gene or a chromosomal rearrangement involving this gene. We hereby present clinical evaluations of 23 patients aged 4 months to 26 years manifesting clinical features of KBG syndrome. Mutation analysis in the patients was performed using panel or exome sequencing and array CGH. Besides possessing dysmorphic features typical of the KBG syndrome, nearly all patients had psychomotor hyperactivity (86%), 81% had delayed speech, 61% had poor weight gain, 56% had delayed closure of fontanel and 56% had a hoarse voice. Macrodontia and a height range of −1 SDs to −2 SDs were noted in about half of the patients; only two patients presented with short stature below −3 SDs. The fact that wide, delayed closing fontanels were observed in more than half of our patients with KBG syndrome confirms the role of the ANKRD11 gene in skull formation and suture fusion. This clinical feature could be key to the diagnosis of KBG syndrome, especially in young children. Hoarse voice is a previously undescribed phenotype of KBG syndrome and could further reinforce clinical diagnosis.
Стилі APA, Harvard, Vancouver, ISO та ін.
12

Ockeloen, Charlotte W., Marjolein H. Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, et al. "Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations." European Journal of Human Genetics 23, no. 9 (November 26, 2014): 1176–85. http://dx.doi.org/10.1038/ejhg.2014.253.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
13

Ockeloen, Charlotte W., Marjolein H. Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, et al. "Erratum: Further delineation of the KBG syndrome caused by ANKRD11 aberrations." European Journal of Human Genetics 23, no. 9 (August 13, 2015): 1270. http://dx.doi.org/10.1038/ejhg.2015.130.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
14

Gallagher, D., A. Bramall, A. Paquin, A. Voronova, S. Burns, P. Neilsen, G. Keller, D. Kaplan, and F. Miller. "ISDN2014_0042: Autism‐associated Ankrd11 is a novel epigenetic regulator of neurogenesis." International Journal of Developmental Neuroscience 47, Part_A (December 2015): 8. http://dx.doi.org/10.1016/j.ijdevneu.2015.04.032.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
15

Low, Karen J., Alison Hills, Maggie Williams, Celia Duff-Farrier, Shane McKee, and Sarah F. Smithson. "A splice-site variant in ANKRD11 associated with classical KBG syndrome." American Journal of Medical Genetics Part A 173, no. 10 (August 17, 2017): 2844–46. http://dx.doi.org/10.1002/ajmg.a.38397.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
16

Alfieri, Paolo, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo, Maria Lisa Dentici, Maria Cristina Digilio, et al. "Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study." Journal of Clinical Medicine 10, no. 7 (April 6, 2021): 1523. http://dx.doi.org/10.3390/jcm10071523.

Повний текст джерела
Анотація:
KBG syndrome (KBGS) is a rare Mendelian condition caused by heterozygous mutations in ANKRD11 or microdeletions in chromosome 16q24.3 encompassing the gene. KBGS is clinically variable, which makes its diagnosis difficult in a significant proportion of cases. The present study aims at delineating the cognitive profile and adaptive functioning of children and adolescents with KBGS. Twenty-four Italian KBGS with a confirmed diagnosis by molecular testing of the causative ANKRD11 gene were recruited to define both cognitive profile as measured by the Wechsler Intelligence Scale and adaptive functioning as measured by Vineland Adaptive Behavior Scales-II Edition or the Adaptive Behavior Assessment System-II Edition. Among children and adolescents, 17 showed intellectual disability, six presented borderline intellectual functioning and only one child did not show cognitive defects. Concerning cognitive profile, results revealed significant differences between the four indexes of Wechsler Intelligence Scale. Namely, the verbal comprehension index was significantly higher than the perceptual reasoning index, working memory index and the processing speed index. Concerning adaptive functioning, no difference between the domains was found. In conclusion, in our cohort, a heterogeneous profile has been documented in cognitive profiles, with a spike on verbal comprehension, while a flat-trend has emerged in adaptive functioning. Our cognitive and adaptive characterization drives professionals to set the best clinical supports, capturing the complexity and heterogeneity of this rare condition.
Стилі APA, Harvard, Vancouver, ISO та ін.
17

Isrie, Mala, Yvonne Hendriks, Nicole Gielissen, Erik A. Sistermans, Marjolein H. Willemsen, Hilde Peeters, Joris R. Vermeesch, Tjitske Kleefstra, and Hilde Van Esch. "Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms." European Journal of Human Genetics 20, no. 2 (June 8, 2011): 131–33. http://dx.doi.org/10.1038/ejhg.2011.105.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
18

Walz, Katherina, Devon Cohen, Paul M. Neilsen, Joseph Foster, Francesco Brancati, Korcan Demir, Richard Fisher, et al. "Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome." Human Genetics 134, no. 2 (November 21, 2014): 181–90. http://dx.doi.org/10.1007/s00439-014-1509-2.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
19

Egger, J., L. Van Dongen, C. Stumpel, E. Wingbermuehle, and T. Kleefstra. "Kbg Syndrome and the Establishment of its Neuropsychological Phenotype." European Psychiatry 41, S1 (April 2017): S157—S158. http://dx.doi.org/10.1016/j.eurpsy.2017.01.2026.

Повний текст джерела
Анотація:
ObjectiveKBG syndrome is caused by a mutation in the ANKRD11 gene, characterized by short stature and specific dental, craniofacial and skeletal anomalies. Scarce literature on the phenotypical presentation mention delayed speech and motor development as well as mild to moderate intellectual disabilities. As to psychopathology, often, autism and ADHD are mentioned but not yet substantiated in terms of neurocognitive variables.AimAim of the current study was to investigate neurocognitive aspects of KBG syndrome.Participants and Methods Seventeen patients (aged 6–66 years; ten females) with a proven ANKRD11 mutation were compared with two different groups of patients with a genetic disorder and similar developmental ages (n = 14 and n = 10). Neuropsychological assessment was performed focusing on the level of intellectual functioning and on attention, memory, executive functioning, and social cognition.ResultsIn KBG patients, mild to moderate intellectual disabilities (WAIS IV Total IQ = 63.5 ± 10.7, range: 45–84) were established with a mental age that was lower than mean chronological age (6.4 ± 2.6 years versus 11 ± 5.7 years, respectively). When compared to both control groups, results indicated a relatively strong processing speed and social cognitive functioning of patients with KBG while direct recall of auditory memory was relatively poor most probably due to attentional dysfunction.ConclusionsThe cognitive profile of this group of 17 patients with KBG is characterized by mild intellectual disability and diminished sustained attention in verbal tasks. Implications for diagnostic procedures and clinical management of the syndrome are discussed, also with regard to the question how this relates to classificatory diagnosis of ADHD.
Стилі APA, Harvard, Vancouver, ISO та ін.
20

Nestorovic, Aleksandra, Jovana Jasnic-Savovic, Georgine Faulkner, Dragica Radojkovic, and Snezana Kojic. "Ankrd1-mediated signaling is supported by its interaction with zonula occludens-1." Archives of Biological Sciences 66, no. 3 (2014): 1233–42. http://dx.doi.org/10.2298/abs1403233n.

Повний текст джерела
Анотація:
The muscle ankyrin repeat protein Ankrd1 is localized in a mechanosensory complex of the sarcomeric I-band. It is involved in signaling pathways activated in response to mechanical stretch. It also acts as a transcriptional cofactor in the nucleus, playing an important role in cardiogenesis and skeletal muscle differentiation. To investigate its regulatory function in signaling we employed protein array methodology and identified 10 novel Ankrd1 binding partners among PDZ domain proteins known to act as platforms for multiprotein complex assembly. The zonula occludens protein-1 (ZO-1) was chosen for further analysis since its interaction with Ankrd2 had already been demonstrated. Both Ankrd2 and Ankrd1 have similar functions and localize in the same regions. We confirmed the interaction of Ankrd1 with ZO-1 protein and determined their subcellular distribution in HeLa cells, showing their colocalization in the cytoplasm. Our findings corroborate the role of Ankrd1 in intracellular signaling.
Стилі APA, Harvard, Vancouver, ISO та ін.
21

Dong, X. J., H. P. Guan, Q. D. Zhang, M. Yerle, and B. Liu. "Mapping of porcine ANKRD1, ANKRD2, ANKRD23, VGLL2 and VGLL4 using somatic cell and radiation hybrid panels." Animal Genetics 38, no. 4 (August 2007): 424–25. http://dx.doi.org/10.1111/j.1365-2052.2007.01613.x.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
22

He, Yongmeng, Yongfu Huang, Shizhi Wang, Lupei Zhang, Huijiang Gao, Yongju Zhao, and Guangxin E. "Hereditary Basis of Coat Color and Excellent Feed Conversion Rate of Red Angus Cattle by Next-Generation Sequencing Data." Animals 12, no. 12 (June 9, 2022): 1509. http://dx.doi.org/10.3390/ani12121509.

Повний текст джерела
Анотація:
Angus cattle have made remarkable contributions to the livestock industry worldwide as a commercial meat-type breed. Some evidence supported that Angus cattle with different coat colors have different feed-to-meat ratios, and the genetic basis of their coat color is inconclusive. Here, genome-wide association study was performed to investigate the genetic divergence of black and red Angus cattle with 63 public genome sequencing data. General linear model analysis was used to identify genomic regions with potential candidate variant/genes that contribute to coat color and feed conversion rate. Results showed that six single nucleotide polymorphisms (SNPs) and two insertion–deletions, which were annotated in five genes (ZCCHC14, ANKRD11, FANCA, MC1R, and LOC532875 [AFG3-like protein 1]), considerably diverged between black and red Angus cattle. The strongest associated loci, namely, missense mutation CHIR18_14705671 (c.296T > C) and frameshift mutation CHIR18_12999497 (c.310G>-), were located in MC1R. Three consecutive strongly associated SNPs were also identified and located in FANCA, which is widely involved in the Fanconi anemia pathway. Several SNPs of highly associated SNPs was notably enriched in ZCCHC14 and ANKRD11, which are related to myofiber growth and muscle development. This study provides a basis for the use of potential genetic markers to be used in future breeding programs to improve cattle selection in terms of coat color and meat phenotype. This study is also helpful to understand the hereditary basis of different coat colors and meat phenotypes. However, the putative candidate genes or markers identified in this study require further investigation to confirm their phenotypic causality and potential effective genetic relationships.
Стилі APA, Harvard, Vancouver, ISO та ін.
23

Gong, Yiming, Liancheng Fan, Yinjie Zhu, Jiahua Pan, Jianjun Sha, Baijun Dong, Wei Xue, Jianqiang Lei, and Jianfei Wang. "Germline mutation in multiple primary malignancies associated with prostate cancer." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): e17505-e17505. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e17505.

Повний текст джерела
Анотація:
e17505 Background: Multiple primary malignancies (MPM) are described as that one individual develop several malignancies that originate from different tissues at the same time or separated (different histology in different location). MPM are also considered as an indicator of germline mutation or hereditary disease. Here we performed next generation sequencing-based 642-gene panel test on the MPM patients to figure out the candidate germline mutation essential for multiple tumorigenesis. Methods: Blood samples from 27 patients diagnosed as MPM with prostate cancer and at least one additional primary cancer from 2018.12 to 2019.12 were collected to detect the germline variation of 642 gene panel. Meanwhile 25 blood samples from patients only diagnosed as prostate cancer were taken as control. After the sequencing results were obtained, the differences between the multiple primary and single primary cohorts were counted. Results: Statistical analysis of the mutations in the multi-primary and single-primary cohorts revealed that differences were concentrated in the following six genes: ESR1, PTPRB, CIC, ANKRD11, BRCA2, MLH1. It was found that the mutations of p.G145S and p.P146Q (frequency 18.5%) of ESR1 gene and p.G1150W (frequency 14.8%) of PTPRB gene which related to angiogenesis were only found in multiple primary cohort. And mutations of growth factor pathway gene CIC (frequency 22.2%), mutation of chromatin remodeling family gene ANKRD11, and two genes of DDR pathway (BRCA2, MLH1) appeared higher in multiple primary cohort, although there was no statistical difference. Conclusions: We found for the first time that the p.G145S and p.P146Q mutations of the estrogen receptor ESR1 gene and the p.G1150W mutation of the angiogenesis-related PTPRB gene may be the drivers of multiple primary prostate cancer, which need further study.
Стилі APA, Harvard, Vancouver, ISO та ін.
24

Samanta, Debopam, and Erin Willis. "Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene." Acta Neurologica Belgica 115, no. 4 (December 28, 2014): 779–82. http://dx.doi.org/10.1007/s13760-014-0413-9.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
25

Gru, Alejandro Ariel, Caroline Snowden, Eli Williams, Carlos Barrionuevo, Jose Sanches, Maxime Battistella, Samuel Mo, et al. "Notable Patterns in the Genomic Landscape of Adult T-Cell Leukemia/Lymphoma Encountered in HTLV-1 Endemic Western World Regions." Blood 138, Supplement 1 (November 5, 2021): 810. http://dx.doi.org/10.1182/blood-2021-154275.

Повний текст джерела
Анотація:
Abstract Background: Adult T-cell leukemia/lymphoma (ATLL) is an aggressive malignancy with dismal prognosis and associated with clonal T-cell expansion driven by Human T-Lymphotropic Virus 1 (HTLV-1) infection. Comprehensive genomic studies in Japan have identified recurrent alterations affecting TCR-NF-kB signaling (i.e. PRKCB, PLCG1, CARD11, VAV1, and IRF4), T-cell trafficking pathways (i.e. CCR4 and CCR7), and the tumor suppressor genes CDKN2A and TP53. HTLV-1 endemic regions include Africa, the Caribbean, and South America in addition to Japan. Retrospective studies from the Western population have reported distinctive features from the Japanese cohort, e.g. younger age, more common lymphomatous presentation, and worse outcomes. Our group sought to evaluate the unique molecular features of ATLL in a large cohort of patients from the Caribbean and South America. Methods: We performed a multimodal genomic study on specimens from 169 patients encountered in the United States (Miami), Peru, Brazil, France, and Spain. Data types included Oncoscan/Copy Number Variation (CNV) data for 129 patients, RNA-seq data for 97 patients, and whole exome sequencing (WES) data for 125 patients. Patients were ethnically classified based upon single nucleotide polymorphisms, under 3 main groups: African (n=80), native American (n= 32), or South Asian/Islander (n=12). 46 specimens without WES data could not be ethnically classified. Somatic variants were called using Mutect. Putative driver mutations were identified by frequency-based criteria. CNV significance was determined using GISTIC2.0. Data were compared to whole exome and targeted sequencing data published by Kataoka et al. Results: Our cohort replicated trends reported in Japanese datasets but included several distinctive findings. South American and Caribbean patients had fewer mutations in CCR4 and CD58. Three putative tumor suppressors not previously implicated in ATLL were identified based on recurrent damaging mutations. These included ANKRD11 (n=3), DGKZ (n=3), and PTPN6 (n=3). Both ANKRD11 and PTPN6 were only mutated in Afro-Caribbean patients with aggressive (acute and lymphomatous) cases. CNV analysis revealed ANKRD11 deletions in a significant portion of cases (n=16). As previously reported, STAT3 mutations were more common in indolent subtypes. IRF4 mutations (n=14) or amplifications (n=19) were only observed in aggressive ATLL subtypes. L70V was the most common IRF4 variant (n=5). Among Japanese samples, K59R mutations were seen twice as often as L70V mutations. Both K59R and L70V are located within the IRF4 DNA binding domain. In samples from patients with disease relapse (N = 10), IRF4 was the only gene mutated significantly more often (p = 0.03). 3 of 10 patients who were previously treated with interferon (IFN)-based therapy relapsed with new IRF4 mutations (L70V n=2, and K59R n=1), suggesting IRF4 may be associated with IFN resistance. A total of 11 patients in the Western cohort had FOXO3 mutations including R177W (n=7) and D199N (n=3) variants. These only occurred in Afro-Caribbean patients with aggressive subtypes. R177W is located within the FOXO3DNA binding domain, suggesting that dysregulation of its transcriptional targets may contribute to disease. In the Japanese cohort, only one patient had a FOXO3 mutation, (D199N). The majority of primary ATLL samples analyzed by Western Blot showed significantly reduced or no expression of FOXO3, or ANKRD11. Conclusion: The genomic landscape of ATLL encountered in patients from South America and the Caribbean resembles that of ATLL in Japanese patients. However, our study identified novel variants and tumor suppressor genes not previously implicated in ATLL that differ from the Japanese population. Furthermore, we correlate our genomic analysis with clinical findings to implicate ATLL driver genes in IFN resistance and disease prognosis. Functional Studies to determine the prognostic and functional roles of the gene alterations we identified in ATLL are ongoing. Disclosures Gru: StemLine: Honoraria, Research Funding, Speakers Bureau; CRISPT Therapeutics: Research Funding; Innate Pharma: Research Funding.
Стилі APA, Harvard, Vancouver, ISO та ін.
26

Lim, Ji-Hun, Eul-Ju Seo, Yoo-Mi Kim, Hyun-Ju Cho, Jin-Ok Lee, Chong Kun Cheon, and Han-Wook Yoo. "A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome." Annals of Laboratory Medicine 34, no. 5 (September 1, 2014): 390–94. http://dx.doi.org/10.3343/alm.2014.34.5.390.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
27

Noll, J. E., J. Jeffery, F. Al-Ejeh, R. Kumar, K. K. Khanna, D. F. Callen, and P. M. Neilsen. "Mutant p53 drives multinucleation and invasion through a process that is suppressed by ANKRD11." Oncogene 31, no. 23 (October 10, 2011): 2836–48. http://dx.doi.org/10.1038/onc.2011.456.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
28

Li, X., Y. S. Zhao, C. K. Chang, F. Xu, and D. Wu. "Gene Mutations of ANKRD11 Influenced Myeloid Differentiation and Histone Acetylation Modulation in Myelodysplastic Syndrome." Leukemia Research 55 (April 2017): S157. http://dx.doi.org/10.1016/s0145-2126(17)30387-9.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
29

Gallagher, Denis, Anastassia Voronova, Mark A. Zander, Gonzalo I. Cancino, Alexa Bramall, Matthew P. Krause, Clemer Abad, et al. "Ankrd11 Is a Chromatin Regulator Involved in Autism that Is Essential for Neural Development." Developmental Cell 32, no. 1 (January 2015): 31–42. http://dx.doi.org/10.1016/j.devcel.2014.11.031.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
30

Sirmaci, Asli, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, et al. "Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia." American Journal of Human Genetics 89, no. 2 (August 2011): 289–94. http://dx.doi.org/10.1016/j.ajhg.2011.06.007.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
31

Seo, Go Hun, Arum Oh, Minji Kang, Eun Na Kim, Ja-Hyun Jang, Dae Yeon Kim, Kyung Mo Kim, Han-Wook Yoo, and Beom Hee Lee. "An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome." Journal of Genetic Medicine 16, no. 1 (June 30, 2019): 39–42. http://dx.doi.org/10.5734/jgm.2019.16.1.39.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
32

Miyatake, Satoko, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, et al. "ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome." Journal of Human Genetics 62, no. 8 (March 2, 2017): 741–46. http://dx.doi.org/10.1038/jhg.2017.24.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
33

Cucco, Francesco, Patrizia Sarogni, Sara Rossato, Mirella Alpa, Alessandra Patimo, Ana Latorre, Cinzia Magnani, et al. "Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome." American Journal of Medical Genetics Part A 182, no. 7 (May 31, 2020): 1690–96. http://dx.doi.org/10.1002/ajmg.a.61611.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
34

Ka, Minhan, and Woo-Yang Kim. "ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway." Neurobiology of Disease 111 (March 2018): 138–52. http://dx.doi.org/10.1016/j.nbd.2017.12.008.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
35

De Bernardi, Margherita Lucia, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Maria Elisabeth Street, Allan Bayat, Marcella Zollino, et al. "Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11." American Journal of Medical Genetics Part A 176, no. 9 (August 8, 2018): 1991–95. http://dx.doi.org/10.1002/ajmg.a.40386.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
36

Novara, Francesca, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, et al. "Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases." European Journal of Human Genetics 25, no. 6 (April 19, 2017): 694–701. http://dx.doi.org/10.1038/ejhg.2017.49.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
37

Marum, Justine E., Paul PS Wang, Doris Stangl, David T. Yeung, Martin C. Mueller, Christian T. Dietz, Ieuan Walker, et al. "Novel Fusion Genes at CML Diagnosis Reveal a Complex Pattern of Genomic Rearrangements and Sequence Inversions Associated with the Philadelphia Chromosome in Patients with Early Blast Crisis." Blood 128, no. 22 (December 2, 2016): 1219. http://dx.doi.org/10.1182/blood.v128.22.1219.1219.

Повний текст джерела
Анотація:
Abstract Introduction The emergence of next generation RNA sequencing (RNA-Seq) technologies will likely advance diagnostic, prognostic and therapeutic strategies for patients (pts) with various cancers.Novel fusions have recently been described in AML and solid tumors using RNA-Seq, and many were out-of-frame.It is not known whether novel fusions are generated at diagnosis (Dx) of CML and if so, their impact on treatment outcome. We used RNA-Seq coupled with whole exome sequencing to identify and characterize novel fusions at Dx of CML and at blast crisis (BC). A highly complex pattern of genomic rearrangements of chromosome (chr) 9 and 22 was found in some pts at Dx that generated novel fusions associated with multiple genomic breaks, multiple non-contiguous deletionsand inversion of genomic sequences, including BCR and ABL. Method RNA-Seqwas performed on Dx samples of chronic phase pts treated with first line TKI representing 2 extreme response groups: 14 pts with BC at a median of 6 months (mos), range 3-25 (group A, poor response), and 16 pts with rapid major molecular response by 3mosof imatinib (group B, optimal response). RNA-Seqwas also performed for 9 of 14 pts at BC (group C).The TruSeq Stranded Total RNA-RiboZero Gold Sample Prep Kit (Illumina) was used. This method enables computation of transcription direction and detection of genomic breaks from precursor RNA. Fusions were identified usingthe STAR algorithm and those detected in 4 normal controls were filtered out. Fusions with a high unique read count, supporting genomic breaks or detection atDxand BC for individual pts were prioritized for validation and their somatic status confirmed by RT-PCR.Correspondingwhole exome sequencingwas conducted for 30 samples. Copy number variation was detected usingSequenzaand exon level resolution ofdeletionswas achieved using an in-house sequence read normalization method. Results BCR-ABL fusions were detected by RNA-Seq in 29/30 pts at Dx and all pts at BC. In addition, novel fusions were identified in eachptgroup. GroupA(poor response). AtDx, 8 cytogenetically cryptic novel fusion transcripts were detected in 4/14 pts, Fig A pts1-4. All fusions involved genes or sequences onchr9 and/or 22 and all 4 pts had concomitant genomic inversion events. Fusion partners included inverted ABL intronic sequences and an inverted intergenic region on chr 22, potentially derived from the generation and activation of cryptic splice sites. BCR was a frequent fusion partner (5/8 fusion transcripts). Genomicdeletionswere detected adjacent to some fusions (3deletionsin 1pt),indicatingdeletionsmay have contributed to fusion formation, Fig B. All 4 pts with novel fusions and inversions had very rapid BC (within 5mosofDx). Group B (optimal response).AtDx, only 1/16 pts had a fusion detected in addition to BCR-ABL: TNRC6B (chr22)-NEK6 (chr9), Fig Apt5. Thisptalso had multiple non-contiguousdeletions: 2 each onchr9 and 22 associated with fusion formation, but no inversions, Fig B. Group C (BC). At BC, 3/9 pts gained fusions. No inversions were detected. Two pts had MLL fusions; MLL-BCAT1 (novel) and MLL-MLLT6. The MLL gene is a known fusion partner in acute leukemia, associated with poor prognosis. Both pts had sudden onset BC after a complete cytogenetic response. These fusions were supported by translocation events detected by cytogenetic analysis;t(11;12)(q23;p12) and t(11;17)(q23;q21). The thirdptgained an out-of-frame ANKRD11-UBQLN1 fusion at BC. Indeed, ANKRD11 expression was reduced by 3-fold at BC. Interestingly, thispthad a germline gain of function TP53 mutation. ANKRD11 is a p53 coactivator and loss of expression defined poor prognosis in breast cancer pts that harbored gain of function p53 mutations (Noll, 2012). The ANKRD11 fusion detected at BC in CML may have been selected with disease progression in the context of mutant p53. Conclusion We identified a subset of pts with novel fusions and inversion events at Dx involvingchr9 and 22. These inversions were detected among the pts studied with very rapid BC. The biological effects of the novel fusions remain to be determined. Our data support the presence of novel fusions, additional to BCR-ABL in CML and add a further layer of genetic heterogeneity associated with the Philadelphia translocation. Whether genomic inversions identify a small subset of CML pts with very poor prognosis requires expanded analysis. Disclosures Yeung: BMS: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Novartis Pharmaceuticals: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Ariad: Research Funding. Mueller:Ariad: Honoraria; Institute for Hematology and Oncology GmbH: Employment; Bristol-Myers Squibb: Honoraria; Novartis: Honoraria; Pfizer: Honoraria. Dietz:Institute for Hematology and Oncology GmbH: Employment. Ross:Novartis Pharmaceuticals: Honoraria, Research Funding; BMS: Honoraria. Hughes:Ariad: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; BMS: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Novartis: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding. Branford:Novartis: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Ariad: Research Funding; Bristol Myers Squibb: Research Funding; Qiagen: Honoraria, Membership on an entity's Board of Directors or advisory committees; Cepheid: Consultancy.
Стилі APA, Harvard, Vancouver, ISO та ін.
38

Demaria, Francesco, Paolo Alfieri, Maria Cristina Digilio, Maria Pontillo, Cristina Di Vincenzo, Federica Alice Maria Montanaro, Valentina Ciullo, Giuseppe Zampino, and Stefano Vicari. "Obsessive Compulsive “Paper Handling”: A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome." Journal of Clinical Medicine 11, no. 16 (August 11, 2022): 4687. http://dx.doi.org/10.3390/jcm11164687.

Повний текст джерела
Анотація:
KBG syndrome (KBGS; OMIM #148050) is a rare disease characterized by short stature, facial dysmorphism, macrodontia of the upper central incisors, skeletal anomalies, and neurodevelopmental disorder/intellectual disability. It is caused by a heterozygous variant or 16q24.3 microdeletions of the ANKRD11 gene (OMIM #611192), which plays a primary role in neuronal development. KBGS traits are variable, and mild expressions of the phenotype may complicate diagnosis. The present work aims at improving the characterization of KBGS in order to facilitate its recognition. A psychopathological evaluation of 17 subjects affected by KBGS found that 10 patients exhibited peculiar behavior related to “paper handling”. These children and adolescents performed repetitive activities with paper, reminiscent of the hoarding and ordering behaviors characteristic of obsessive compulsive disorder. Their activities were time consuming and carried out in solitary, and forced interruption could generate intense emotional reactions. Paper handling may thus be understood as a potential distinct KBGS symptom akin to an obsessive compulsive symptom. Further research is needed to verify this claim.
Стилі APA, Harvard, Vancouver, ISO та ін.
39

Parenti, I., C. Gervasini, J. Pozojevic, L. Graul-Neumann, J. Azzollini, D. Braunholz, E. Watrin, et al. "Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype." Clinical Genetics 89, no. 1 (February 25, 2015): 74–81. http://dx.doi.org/10.1111/cge.12564.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
40

Kaname, Tadashi, and Kumiko Yanagi. "A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome." Journal of Human Genetics 62, no. 8 (June 1, 2017): 739–40. http://dx.doi.org/10.1038/jhg.2017.58.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
41

Barbaric, Ivana, Mark J. Perry, T. Neil Dear, Alexandra Rodrigues Da Costa, Daniela Salopek, Ana Marusic, Tertius Hough, et al. "An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda." Physiological Genomics 32, no. 3 (February 2008): 311–21. http://dx.doi.org/10.1152/physiolgenomics.00116.2007.

Повний текст джерела
Анотація:
The mechanisms that regulate bone mass are important in a variety of complex diseases such as osteopenia and osteoporosis. Regulation of bone mass is a polygenic trait and is also influenced by various environmental and lifestyle factors, making analysis of the genetic basis difficult. As an effort toward identifying novel genes involved in regulation of bone mass, N-ethyl- N-nitrosourea (ENU) mutagenesis in mice has been utilized. Here we describe a mouse mutant termed Yoda that was identified in an ENU mutagenesis screen for dominantly acting mutations. Mice heterozygous for the Yoda mutation exhibit craniofacial abnormalities: shortened snouts, wider skulls, and deformed nasal bones, underlined by altered morphology of frontonasal sutures and failure of interfrontal suture to close. A major feature of the mutant is reduced bone mineral density. Homozygosity for the mutation results in embryonic lethality. Positional cloning of the locus identified a missense mutation in a highly conserved region of the ankyrin repeat domain 11 gene ( Ankrd11). This gene has not been previously associated with bone metabolism and, thus, identifies a novel genetic regulator of bone homeostasis.
Стилі APA, Harvard, Vancouver, ISO та ін.
42

Bogomolovas, Julius, Kathrin Brohm, Jelena Čelutkienė, Giedrė Balčiūnaitė, Daiva Bironaitė, Virginija Bukelskienė, Dainius Daunoravičus, et al. "Induction of Ankrd1 in Dilated Cardiomyopathy Correlates with the Heart Failure Progression." BioMed Research International 2015 (2015): 1–9. http://dx.doi.org/10.1155/2015/273936.

Повний текст джерела
Анотація:
Progression of idiopathic dilated cardiomyopathy (IDCM) is marked with extensive left ventricular remodeling whose clinical manifestations and molecular basis are poorly understood. We aimed to evaluate the clinical potential of titin ligands in monitoring progression of cardiac remodeling associated with end-stage IDCM. Expression patterns of 8 mechanoptotic machinery-associated titin ligands (ANKRD1,ANKRD2,TRIM63,TRIM55,NBR1,MLP,FHL2, andTCAP) were quantitated in endomyocardial biopsies from 25 patients with advanced IDCM. When comparing NYHA disease stages, elevatedANKRD1expression levels marked transition from NYHA < IV to NYHA IV.ANKRD1expression levels closely correlated with systolic strain depression and short E wave deceleration time, as determined by echocardiography. On molecular level, myocardialANKRD1and serum adiponectin correlated with lowBAX/BCL-2ratios, indicative of antiapoptotic tissue propensity observed during the worsening of heart failure. ANKRD1 is a potential marker for cardiac remodeling and disease progression in IDCM.ANKRD1expression correlated with reduced cardiac contractility and compliance. The association ofANKRD1with antiapoptotic response suggests its role as myocyte survival factor during late stage heart disease, warranting further studies on ANKRD1 during end-stage heart failure.
Стилі APA, Harvard, Vancouver, ISO та ін.
43

Palumbo, Orazio, Pietro Palumbo, Ester Di Muro, Luigia Cinque, Antonio Petracca, Massimo Carella, and Marco Castori. "A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features." Genes 11, no. 6 (June 26, 2020): 707. http://dx.doi.org/10.3390/genes11060707.

Повний текст джерела
Анотація:
No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a de novo 16q24.2q24.3 microduplication at the Single Nucleotide Polymorphism (SNP)-array analysis spanning ~2.2 Mb and encompassing 38 genes. The patient showed mild-to-moderate intellectual disability, speech delay and mild dysmorphic features. In DECIPHER, we found six individuals carrying a “pure” overlapping microduplication. Although available data are very limited, genomic and phenotype comparison of our and previously annotated patients suggested a potential clinical relevance for 16q24.2q24.3 microduplication with a variable and not (yet) recognizable phenotype predominantly affecting cognition. Comparing the cytogenomic data of available individuals allowed us to delineate the smallest region of overlap involving 14 genes. Accordingly, we propose ANKRD11, CDH15, and CTU2 as candidate genes for explaining the related neurodevelopmental manifestations shared by these patients. To the best of our knowledge, this is the first time that a clinical and molecular comparison among patients with overlapping 16q24.2q24.3 microduplication has been done. This study broadens our knowledge of the phenotypic consequences of 16q24.2q24.3 microduplication, providing supporting evidence of an emerging syndrome.
Стилі APA, Harvard, Vancouver, ISO та ін.
44

Vasmatzis, George, Sarah H. Johnson, Ryan A. Knudson, Rhett P. Ketterling, Esteban Braggio, Rafael Fonseca, David S. Viswanatha, et al. "Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas." Blood 120, no. 11 (September 13, 2012): 2280–89. http://dx.doi.org/10.1182/blood-2012-03-419937.

Повний текст джерела
Анотація:
Abstract Peripheral T-cell lymphomas (PTCLs) are aggressive malignancies of mature T lymphocytes with 5-year overall survival rates of only ∼ 35%. Improvement in outcomes has been stymied by poor understanding of the genetics and molecular pathogenesis of PTCL, with a resulting paucity of molecular targets for therapy. We developed bioinformatic tools to identify chromosomal rearrangements using genome-wide, next-generation sequencing analysis of mate-pair DNA libraries and applied these tools to 16 PTCL patient tissue samples and 6 PTCL cell lines. Thirteen recurrent abnormalities were identified, of which 5 involved p53-related genes (TP53, TP63, CDKN2A, WWOX, and ANKRD11). Among these abnormalities were novel TP63 rearrangements encoding fusion proteins homologous to ΔNp63, a dominant-negative p63 isoform that inhibits the p53 pathway. TP63 rearrangements were seen in 11 (5.8%) of 190 PTCLs and were associated with inferior overall survival; they also were detected in 2 (1.2%) of 164 diffuse large B-cell lymphomas. As TP53 mutations are rare in PTCL compared with other malignancies, our findings suggest that a constellation of alternate genetic abnormalities may contribute to disruption of p53-associated tumor suppressor function in PTCL.
Стилі APA, Harvard, Vancouver, ISO та ін.
45

Willemsen, Marjolein H., Bridget A. Fernandez, Carlos A. Bacino, Erica Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema-Raddatz, et al. "Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome." European Journal of Human Genetics 18, no. 4 (November 18, 2009): 429–35. http://dx.doi.org/10.1038/ejhg.2009.192.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
46

Gawlińska, Kinga, Dawid Gawliński, Małgorzata Borczyk, Michał Korostyński, Edmund Przegaliński, and Małgorzata Filip. "A Maternal High-Fat Diet during Early Development Provokes Molecular Changes Related to Autism Spectrum Disorder in the Rat Offspring Brain." Nutrients 13, no. 9 (September 16, 2021): 3212. http://dx.doi.org/10.3390/nu13093212.

Повний текст джерела
Анотація:
Autism spectrum disorder (ASD) is a disruptive neurodevelopmental disorder manifested by abnormal social interactions, communication, emotional circuits, and repetitive behaviors and is more often diagnosed in boys than in girls. It is postulated that ASD is caused by a complex interaction between genetic and environmental factors. Epigenetics provides a mechanistic link between exposure to an unbalanced maternal diet and persistent modifications in gene expression levels that can lead to phenotype changes in the offspring. To better understand the impact of the early development environment on the risk of ASD in offspring, we assessed the effect of maternal high-fat (HFD), high-carbohydrate, and mixed diets on molecular changes in adolescent and young adult offspring frontal cortex and hippocampus. Our results showed that maternal HFD significantly altered the expression of 48 ASD-related genes in the frontal cortex of male offspring. Moreover, exposure to maternal HFD led to sex- and age-dependent changes in the protein levels of ANKRD11, EIF4E, NF1, SETD1B, SHANK1 and TAOK2, as well as differences in DNA methylation levels in the frontal cortex and hippocampus of the offspring. Taken together, it was concluded that a maternal HFD during pregnancy and lactation periods can lead to abnormal brain development within the transcription and translation of ASD-related genes mainly in male offspring.
Стилі APA, Harvard, Vancouver, ISO та ін.
47

Hodgetts Morton, Victoria, Elizabeth Quinlan-Jones, Natasha Butts, Denise Williams, Sue Hamilton, Tamas Marton, and Katie Morris. "The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder." Clinical Case Reports 6, no. 1 (December 11, 2017): 189–91. http://dx.doi.org/10.1002/ccr3.1285.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
48

Pimentel, Agustin, Andrea O'Hara, Rosangela de Lima, Suying Xu, Ngoc Toomey, Carlos Brites, Yao-Shan Fan, and Juan Carlos Ramos. "Distinct Patterns of Genomic Alterations in Adult T-Cell Leukemia-Lymphoma Endemic in the Western World." Blood 124, no. 21 (December 6, 2014): 1698. http://dx.doi.org/10.1182/blood.v124.21.1698.1698.

Повний текст джерела
Анотація:
Abstract Introduction: Acute T-cell leukemia/lymphoma (ATLL) is a highly aggressive malignancy caused by HTLV-I, which is endemic in Japan, the Caribbean, and South America. ATLL carries a dismal prognosis and is generally incurable with conventional chemotherapy. ATLL is challenging to study at the molecular level, in part due to its complex genetic alterations likely resulting from years of HTLV-I driven T-cell proliferation and accumulation of genetic damage prior to malignant transformation. While no specific chromosome or genetic abnormalities have been proven to contribute to the pathogenesis of ATLL, older comparative genomic hybridization (CGH) studies performed in Japanese patients have demonstrated frequent genetic lesions (gains and losses) involving specific chromosomal regions, thus limited information exists about the chromosomal abnormalities occurring in the African ATLL variant commonly seen in the Western World. Methods: In this study, we used a high-density oligo array 244K platform CGH platform (Agilent Technologies) with an average resolution of 8.9 Kb, to perform a comprehensive genomic analysis of 47 ATLL patient tumor specimens obtained from African-descendants in the United States, Caribbean and Brazil. Patients were sub-classified as acute-type (A) ATLL (n=31), lymphomatous (L) (n=8), chronic (n=7, six whom had unfavorable features), and one with smouldering type according to Shimoyama criteria. DNA samples were extracted from peripheral blood mononuclear cells or tumor samples from these patients and checked for quality. Results: ATLL tumors exhibited complex genomic abnormalities and high copy number changes (CNCs). The average of copy number (CN) aberrations per sample was 238 in the L-group vs. 114 in acute/unfavorable chronic (A/UC) group. However, many chromosomal alterations were observed in this cohort, which had not been previously reported by other studies. The common CNCs were gains at 1q21-q44, 3, 3p, 7q22-q36, 8, 18, 19p13.1-p13.3, 21q21.1-q22.3, 22q12-q13 and losses at 5q13.2-q32, 6q11-q15, 9q13-q21. Gains in the 14 q32 (IGH) regions and losses in the 7p14.1 (TCRG), 7q34 (TCRB) and 14q11.2 (TCRA) regions involving small DNA segments were frequently observed. Genomic losses involving at least one or more known or candidate tumor suppressor genes were found in nearly all tumors, including some genes not previously implicated in ATLL. Some of the most significant gene or locus specific losses occurring in at least 20 % of the tumors in aggressive ATLL subtypes (A/UC and L) are summarized in Table 1. Losses of CDKN2A and CDKN2B tumor suppressor genes have been previously implicated in ATLL and other cancers. Several other genes found by this analysis have been implicated in apoptosis or cancer (i.e. CBLB, ANKRD11, IKZF1, and EPC1). IMMP2L deletion was associated with shorter survival time (2.3 weeks) compared with those cases without this gene deletion (29 weeks) in the A/UC group (p=0.005). ANKRD11 homo- or heterozygous deletions were seen in 37% of L-type and 19% of acute-type cases, and were associated with a shorter survival (13 vs. 43 weeks, p=<0.05) in the A group. CPN2/LRRC15 locus gains in 32% of A-type were linked to poorer survival (16 vs. 42 weeks, p=0.05). Table 1. GENE FUNCTION LOSSES (n) GAINS (n) NRXN3 Membrane receptor, cell adhesion 23 A/UC 3 L NS IMMP2L Mitochondrial inner membrane peptidase 16 A/UC* 5 L 4 A/UC CDKN2A/ CDKN2B (P16INK4/p15INK4b) Cyclin-dependent kinase inhibitors, tumor suppressors 16 A/UC 2 L 1 A/UC 1 L CBLB E3 ubiquitin protein ligase 12 A/UC 1 L NS ANKRD11 Transcriptional inhibitor, co-activator of p53 6 A/UC* 3 L NS CPN2 Carboxypeptidase NS 10 A/UC* 2 L IKZF1 Zinc-finger DNA binding proteins , lymphocyte differentiation NS 6 A/UC 3 L INSIG1 Endoplasmic reticulum membrane protein, intracellular lipid metabolism NS 10 A/UC 1 L EPC1 Member of the polycomb group family, transcriptional activator and repressor 10 A/UC 2 L NS * are genomic imbalances associated with a statistically significant reduction in survival. NS: non-significant. Conclusion: In sum, using a high resolution CGH array we observed distinct patterns ofgenetic aberrations in ATLL endemic in the Western World. We have successfully narrowed the genomic regions containing potential candidate genes that could be relevant to the pathogenesis of this fatal disease. Functional studies are required to determine the role of some of these genes in the pathogenesis of ATLL. Disclosures O'Hara: BioDiscovery, Inc.: Employment.
Стилі APA, Harvard, Vancouver, ISO та ін.
49

Bianchi, Pier Marco, Alessandra Bianchi, Maria Cristina Digilio, Filippo Maria Tucci, Emanuela Sitzia, and Giovanni Carlo De Vincentiis. "Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature." International Journal of Pediatric Otorhinolaryngology 103 (December 2017): 109–12. http://dx.doi.org/10.1016/j.ijporl.2017.10.017.

Повний текст джерела
Стилі APA, Harvard, Vancouver, ISO та ін.
50

Shi, Wenhui, Feng Xu, Chunkang Chang, and Xiao Li. "DHX9 Mutations Are Identified As a Novel Recurrent Event in Patients with Myelodysplastic Syndromes and Closely Related to Bone Marrow Failure." Blood 126, no. 23 (December 3, 2015): 1651. http://dx.doi.org/10.1182/blood.v126.23.1651.1651.

Повний текст джерела
Анотація:
Abstract Background DHX9(Asp-Glu-Ala-His box helicase 9) is considered to play a key role in many biological processes and cancer development. However, the effect of DHX9 mutation and the main function is not fully understood in myelodysplastic syndromes (MDS). Objective The objective of this study is to investigate the frequency of DHX9 mutations and their relationship with clinical characteristics in MDS. Methods Next generation sequencing was used to determined the DHX9 mutations and other recurrent genes mutations in 320 MDS patients. The effect of DHX9 mutations or combination with other genes mutations on patients' survival was analyzed. The association of DHX9 mutations with clinical characteristics of MDS was also studied. In addition, the effect of DHX9 on tumor biological features was evaluated in vitro. Results 1. DHX9 mutations were detected in 10.94% of MDS patients(35/320). 42.9% of these mutation were del(c.306_308), 31.4% were splicing mutations (c.674-4A>G; c.2512+8C>A) and the rest (25.7%) were missense mutation. In these patients with DHX9 mutations, 24(68.6%) had concomitant occurrence with other mutations such as ANKRD11, TET2, ASXL1, TP53 and U2AF1 (Fig.1A). 2. The patients with DHX9 mutations especially sole mutations had significantly superior survivalcompared with those without mutations (Fig.2B). The patients with DHX9 mutations also had superior survivalcompared with those with genes mutations with poor prognosis, such as DNMT3A/RUNX1/ASXL1, IDH1/TP53/U2AF1, PTPRD/ANKRD11, even those mutations with good prognosis such as TET2 and SF3B1 (Fig.2C, 2D and 2E). 3. We also analyzed the difference in clinical features between the patients with and without DHX9 mutations (Table 1). Obviously, the patients with DHX9 mutations exhibited more severe BM failure and reduced Tc1/Tc2 polarization. 4. The quantitive PCR revealed that the patients with DHX9 mutations had lower expression of DHX9 mRNA than those without DHX9 mutations. The MDS patients had significantly higher expression of DHX9 than normal controls. No difference was observed in DHX9 expression between the MDS patients with DHX9 mutations and normal controls (Fig.2A). 5. In vitro experiments,knockdown of DHX9 induces increased cell apoptosis and inhibits cell growth in myeloid cell lines (SKM-1, K562 and HEL cells) (Fig.2B and 2C). Knockdown of DHX9 significantly enhanced the expression of apoptotic proteins (Fig.2D). Conclusion DHX9 mutations are novel recurrent molecular aberrations in MDS and closely related to bone marrow failure. Figure 1. The distribution of DHX9 mutations and the effect of DHX9 mutations or combination with other genes mutations on patients' survival. Figure 1. The distribution of DHX9 mutations and the effect of DHX9 mutations or combination with other genes mutations on patients' survival. Figure 2. Comparison between patients with or without DHX9 mutations Figure 2. Comparison between patients with or without DHX9 mutations Figure 3. The mRNA expression of DHX9 in MDS and the effect of DHX9 knockdown in myeloid cell lines Figure 3. The mRNA expression of DHX9 in MDS and the effect of DHX9 knockdown in myeloid cell lines Disclosures No relevant conflicts of interest to declare.
Стилі APA, Harvard, Vancouver, ISO та ін.
Також вас можуть зацікавити добірки на тему "ANKRD11" для інших типів джерел:
Дисертації
Ми пропонуємо знижки на всі преміум-плани для авторів, чиї праці увійшли до тематичних добірок літератури. Зв'яжіться з нами, щоб отримати унікальний промокод!

До бібліографії