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pro vyhledávání: '"Allelic heterogeneity"'
Akademický článek
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Autor:
Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-15 (2022)
Abstract Background The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical ge
Externí odkaz:
https://doaj.org/article/2eb0e4b3e2f04a0db191e0fc90b873c0
Publikováno v:
JAAD Case Reports, Vol 24, Iss , Pp 11-13 (2022)
Externí odkaz:
https://doaj.org/article/72b021f2621546a696a791fc3b37b3b0
Autor:
Matteo Botti, Vito Terlizzi, Michela Francalanci, Daniela Dolce, Maria Chiara Cavicchi, Anna Silvia Neri, Valeria Galici, Gianfranco Mergni, Lucia Zavataro, Claudia Centrone, Filippo Festini, Giovanni Taccetti
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021)
Abstract Background Cystic fibrosis (CF) is a life-threatening disease affecting about 1:3000 newborns in Caucasian populations. The introduction of newborn screening for cystic fibrosis (CF NBS) has improved the clinical outcomes of individuals with
Externí odkaz:
https://doaj.org/article/2cd82b90d17544b1ba359d6a11113bc5
Publikováno v:
Neurobiology of Disease, Vol 145, Iss , Pp 105082- (2020)
Causative genes involved in familial forms of dementias, including Alzheimer's disease (AD), frontotemporal lobar degeneration (FTLD) and dementia with Lewy bodies (DLB), as well as amyotrophic lateral sclerosis and prion diseases where dementia is p
Externí odkaz:
https://doaj.org/article/11491c70bdf2446ea0ead6b42af55778
Autor:
Christina Marie Rochus, Flavie Tortereau, Florence Plisson-Petit, Gwendal Restoux, Carole Moreno-Romieux, Gwenola Tosser-Klopp, Bertrand Servin
Publikováno v:
BMC Genomics, Vol 19, Iss 1, Pp 1-17 (2018)
Abstract Background One of the approaches to detect genetics variants affecting fitness traits is to identify their surrounding genomic signatures of past selection. With established methods for detecting selection signatures and the current and futu
Externí odkaz:
https://doaj.org/article/c12907752b614dfb9ef3aa3d04b3e4fe
Autor:
Hong Ming Huang, Denis C. Bauer, Patrick M. Lelliott, Matthew W. A. Dixon, Leann Tilley, Brendan J. McMorran, Simon J. Foote, Gaetan Burgio
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 9, Pp 3133-3144 (2017)
Allelic heterogeneity is a common phenomenon where a gene exhibits a different phenotype depending on the nature of its genetic mutations. In the context of genes affecting malaria susceptibility, it allowed us to explore and understand the intricate
Externí odkaz:
https://doaj.org/article/9bad8ce2bed54c3aaf6b8f0f966deb1b
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Background: Vitamin-D binding protein (DBP) also known as GC protein, is a major determinant for vitamin- D metabolism and transport. GC1F, GC1S, and GC2 are the three allelic variants (denoted as rs4588 and rs7041) of GC, and known to be associated
Externí odkaz:
https://doaj.org/article/af5d2bd186a143f7abb2b247de594da0
Autor:
Huikun Duan, Xiangdong Kong, Xiaofan Zhu, Zhihui Jiao, Xiaohua Fang, Yin Feng, Ning Liu, Chaofeng Zhu
Publikováno v:
Clinica Chimica Acta. 524:194-200
Background Mucopolysaccharidosis (MPS) refers to a group of lysosomal storage disorders for which seven types and 11 subtypes are currently recognized. Targeted next-generation sequencing (NGS) offers an important method of disease typing, diagnosis,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168eabeb79f0f545f50da0eff1ee8385
https://doi.org/10.1016/j.cca.2021.11.019
https://doi.org/10.1016/j.cca.2021.11.019
Autor:
Fernanda M Bosada, Karel van Duijvenboden, Alexandra E Giovou, Mathilde R Rivaud, Jae-Sun Uhm, Arie O Verkerk, Bastiaan J Boukens, Vincent M Christoffels
Publikováno v:
eLife, 12:e80317. eLife Sciences Publications
Heart development and rhythm control are highly Tbx5 dosage-sensitive. TBX5 haploinsufficiency causes congenital conduction disorders, whereas increased expression levels of TBX5 in human heart samples has been associated with atrial fibrillation (AF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae07b5f4c459bb960c5fed9acbae642b
https://doi.org/10.7554/elife.80317
https://doi.org/10.7554/elife.80317