Results 41 to 50 of about 590,083 (218)

Additional file 2 of A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

, 2021
Additional file 2: Table S2.
Weifeng Zhang (134361), Jinglin Xu (11625796), Ying He (125930), Yiming Lin (174403), Dongmei Chen (124974), Zhiyong Liu (160339), Ruiquan Wang (11625793), Fengfeng Zhang (3640210), Lianqiang Wu (10950765)   +8 more
core   +1 more source

A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks [PDF]

, 2020
Data source: Supplementary data, https://doi.org/10.1093/hmg/ddaa151Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms.
Corbett, M., Tatton-Brown, Katrina, Espinoza, J.L., Gecz, J., Jolly, L.A., Nawaz, Urwah, Jolly, LA, Jolly, Lachlan, Coman, D, Domingo, D, Wilkinson, MF, Coman, D., Corbett, Mark, Gecz, J, Wilkinson, Miles, Tatton-Brown, K, Espinoza, JL, Coman, David, Tatton-Brown, K., Nawaz, U., Wilkinson, M.F., Gecz, Jozef, Corbett, M, Nawaz, U, Espinoza, Josh, Domingo, D., Domingo, Deepti   +26 more
core   +1 more source

A multispecies approach for comparing sequence evolution of X-linked and autosomal sites in Drosophila [PDF]

, 2008
Population genetics models show that, under certain conditions, the X chromosome is expected to be under more efficient selection than the autosomes.
Vicoso, Beatriz, Haddrill, Penelope R, Charlesworth, Brian   +2 more
core   +2 more sources

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

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   +1 more source

Rare variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations

, 2018
Many G protein-coupled receptors (GPCRs) lack common variants that lead to reproducible genome-wide disease associations. Here we used rare variant approaches to assess the disease associations of 85 orphan or understudied GPCRs in an unselected cohort ...
Ridge Dershem, David J. Carey, Gerda E. Breitwieser, Diane T. Smelser, Kirk Jeffreys, Michal Hershfinkel, Raghu P.R. Metpally, Sarathbabu Krishnamurthy, Janet D. Robishaw   +8 more
core   +1 more source

MagmaFlow: A desktop platform for artificial intelligence‐driven expression analysis

FEBS Open Bio, EarlyView.
MagmaFlow is a free, no‐code platform for gene expression analysis. It generates interactive volcano plots, links genes to literature, pathways, and diseases, prioritizes candidates using millions of publications, identifies affected biological processes, builds network diagrams, and exports publication‐ready figures and reports for macOS and Windows ...
Carlos E. Buss, Ao Li, Eduardo H. Gilglioni, Mayank Bansal, Sumeet Pal Singh, Latifa Bakiri, Alessandra K. Cardozo, Esteban N. Gurzov   +7 more
wiley   +1 more source

A Unique SARS-CoV-2 Spike Protein P681H Variant Detected in Israel

Vaccines, 2021
The routine detection, surveillance, and reporting of novel SARS-CoV-2 variants is crucial, as these threaten to hinder global vaccination efforts. Herein we report a novel local variant with a non-synonymous mutation in the spike (S) protein P681H. This
Neta S. Zuckerman, Shay Fleishon, Efrat Bucris, Dana Bar-Ilan, Michal Linial, Itay Bar-Or, Victoria Indenbaum, Merav Weil, Yaniv Lustig, Ella Mendelson, Michal Mandelboim, Orna Mor, Neta Zuckerman, on behalf of the Israel National Consortium for SARS-CoV-2 Sequencing   +13 more
doaj   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

A Synonymous DLG4 Variant (c.771G>A) Causes Exon 9 Skipping via Paternal Germline Mosaicism in DLG4‐Related Synaptopathy

Molecular Genetics & Genomic Medicine
Background The synonymous DLG4 variant is annotated with conflicting pathogenicity interpretations, and its molecular mechanism remains uncharacterized.
Jing Chen, Qinfei Zhao, Xinyue Zhang, Nan Wu, Xuxiang Xi, Yin Zeng, Sa Wu, Kun Yuan, Zezhang Liu, Xiangsheng Wu, Shaoying Zeng   +10 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source