Results 1 to 10 of about 9,434 (114)

Compound heterozygous splicing and missense variants in MYO7A in a Chinese patient with Usher syndrome [PDF]

Frontiers in Medicine
ObjectiveThe objectives of the present study were to identify the genetic variations in a Chinese patient with Usher syndrome and to determine the pathogenicity of the identified variations.MethodsWhole-exome sequencing was performed for the proband ...
Juyi Li, Huihui Mao, Lu Li, Xiufang Wang, Guohua Yang, Jiguo Yu, Aiping Deng, Jifa Hu, Dan Wu, Peiyan Zhan, Yingbo Li   +10 more
doaj   +2 more sources

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients [PDF]

Molecular Genetics & Genomic Medicine
Background Ornithine transcarbamylase deficiency (OTCD, MIM#311250) is a rare X‐linked urea cycle disorder causing hyperammonemia. While around 600 pathogenic OTC variants have been reported, cryptic changes like synonymous or in‐frame variants remain ...
Qingming Wang, Huimin Xiao, Fang Zhang, Hui Li, Juan Zhao, Haiming Yuan   +5 more
doaj   +2 more sources

Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family [PDF]

Frontiers in Medicine
BackgroundX-linked Alport syndrome (XLAS) is a disorder of type IV collagen structure caused by pathogenic variants of the COL4A5 gene and characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Although mutation screening is
Pei Qian, Hui-mei Huang, Lei Suo, Zhijuan Li, Min Zhang, Ying Bao   +5 more
doaj   +2 more sources

Minigenes for heterologous expression of human and mouse cationic trypsinogen. [PDF]

PLoS ONE
Inborn mutations in the PRSS1 gene encoding human cationic trypsinogen cause hereditary pancreatitis. In mouse models, PRSS1 mutations are often studied in the context of the Prss3b gene that codes for mouse cationic trypsinogen.
Gergő Berke, Miklós Sahin-Tóth
doaj   +2 more sources

Interaction between Plasma Metabolomics and Intestinal Microbiome in db/db Mouse, an Animal Model for Study of Type 2 Diabetes and Diabetic Kidney Disease

Metabolites, 2022
Evidence has demonstrated that either metabolites or intestinal microbiota are involved in the pathogenesis of type 2 diabetes (T2D) and diabetic kidney disease (DKD).
Chenhua Wu, Jingjing Fei, Qing Xu, Yingjun Tao, Ziqi Zhou, Yurong Wang, Jie Wu, Harvest F. Gu   +7 more
doaj   +1 more source

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

Frontiers in Genetics, 2021
Combining data derived from a meta-analysis of human disease-associated 5′ splice site GT>GC (i.e., +2T>C) variants and a cell culture-based full-length gene splicing assay (FLGSA) of forward engineered +2T>C substitutions, we recently estimated
Jin-Huan Lin, Jin-Huan Lin, Hao Wu, Hao Wu, Wen-Bin Zou, Wen-Bin Zou, Emmanuelle Masson, Emmanuelle Masson, Yann Fichou, Yann Fichou, Gerald Le Gac, Gerald Le Gac, Gerald Le Gac, David N. Cooper, Claude Férec, Claude Férec, Zhuan Liao, Zhuan Liao, Jian-Min Chen   +18 more
doaj   +1 more source

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

Frontiers in Genetics, 2023
Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance.
Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M. Toydemir, Emanuele Panza, Emanuele Panza   +8 more
doaj   +1 more source

A Missense Mutation rs781536408 (c.2395G>A) of TYK2 Affects Splicing and Causes Skipping of Exon18 in vivo

Frontiers in Genetics, 2021
TYK2 variants can impact disease onset or progression. In our previous study, we identified abnormal splicing that happened near rs781536408 in the TYK2 gene.
Suqing Chen, Peilin Wu, Bin Wu, Chenye Lin, Junhong Chen, Lishengdan Chen, Ge Lv   +6 more
doaj   +1 more source

Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non‐coding sequence variant of PPP1R12A

Molecular Genetics & Genomic Medicine, 2023
Background Genitourinary and/or brain malformation syndrome (GUBS) is a recently discovered syndrome involving abnormalities of the neurological or urogenital system. PPP1R12A may be the pathological gene causing this syndrome.
Yanxia Diao, Weiwei Sun, Zhen Zhang, Bing Zhao, Xin Chen   +4 more
doaj   +1 more source

Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders

Frontiers in Molecular Neuroscience, 2022
ObjectiveAccording to a recent report, the mutation of transcription factor gene BCL11B is associated with the development of neurodevelopmental disorders and immune deficiency.
Fengyu Che, Xiaoling Tie, Hong Lei, Xi Zhang, Mingyue Duan, Liyu Zhang, Ying Yang   +6 more
doaj   +1 more source