Results 41 to 50 of about 1,458 (100)

Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case

Frontiers in Cardiovascular Medicine, 2022
BackgroundSudden cardiac death (SCD), based on sudden cardiac ejection cessation, is an unexpected death. Primary cardiomyopathies, including dilated cardiomyopathy (DCM), are one of main causes of SCD.
Jie-Yuan Jin, Jiao Xiao, Yi Dong, Yue Sheng, Ya-Dong Guo, Ya-Dong Guo, Ya-Dong Guo, Rong Xiang, Rong Xiang, Rong Xiang   +9 more
doaj   +1 more source

Adaptive evolution of proteins in hepatitis B virus during divergence of genotypes

Scientific Reports, 2017
Hepatitis B virus (HBV) is classified into several genotypes, correlated with different geographic distributions, clinical outcomes and susceptible human populations.
Shengdi Li, Zhen Wang, Yixue Li, Guohui Ding   +3 more
doaj   +1 more source

Identification of VIPR2 rare and common variants in the Chinese Han population with schizophrenia

Frontiers in Molecular Neuroscience, 2023
IntroductionSchizophrenia is a severe and chronic psychiatric disorder with hereditary risk up to 80% as previous studies indicated. Several researches have demonstrated a significant association between schizophrenia and microduplications that overlap ...
Jiajun Yin, Juan Zhou, Fang Fang, Shui Yu, Jun Wang, Jianmin Yuan, Zhenhe Zhou   +6 more
doaj   +1 more source

Structural impact of synonymous mutations in six SARS-CoV-2 Variants of Concern.

PLoS ONE
SARS-CoV-2 continues to spread and infect people worldwide. While most effort into characterizing variants of this virus have focused on non-synonymous changes, accumulation of synonymous mutations in different viral variants has also occurred.
Alison Ziesel, Hosna Jabbari
doaj   +1 more source

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Molecular Genetics & Genomic Medicine, 2021
Background Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2.
Na Ma, Zhenhua Zhu, Jing Liu, Ying Peng, Xiaomeng Zhao, Weiling Tang, Zhengjun Jia, Hui Xi, Bodi Gao, Hua Wang, Juan Du   +10 more
doaj   +1 more source

A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

Human Genome Variation
Abstract We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant.
Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová   +6 more
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Variance explained by whole genome sequence variants in coding and regulatory genome annotations for six dairy traits

BMC Genomics, 2018
Background There are an exceedingly large number of sequence variants discovered through whole genome sequencing in most populations, including cattle. Deciphering which of these affect complex traits is a major challenge.
Lambros T. Koufariotis, Yi-Ping Phoebe Chen, Paul Stothard, Ben J. Hayes   +3 more
doaj   +1 more source

Assessment of genetic variation in Apis mellifera jemenitica (Hymenoptera: Apidae) based on mitochondrial Cytochrome Oxidase Subunit II and III.

PLoS ONE, 2022
Morphometric and genetic characterization of many Apis mellifera subspecies are well-documented. A. m. jemenetica occurs naturally in Africa and Asia.
Yehya Alattal, Ahmad Algamdi
doaj   +1 more source

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant

Frontiers in Pediatrics, 2023
BackgroundA novel autosomal recessive skeletal dysplasia resulting from pathogenic variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) has been recently delineated.
Yeqing Yuan, Qiaoli Zhou, Chunli Wang, Wei Zhou, Wei Gu, Bixia Zheng   +5 more
doaj   +1 more source

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

Investigative Opthalmology & Visual Science, 2020
Choroideremia is an inherited retinal degeneration caused by 280 different pathogenic variants in the CHM gene. Only one silent/synonymous variant (c.1359C>T; p.(Ser453=)) has been reported and was classified as inconclusive based on in silico analysis.
da Palma, Mariana Matioli, Motta, Fabiana Louise, Gomes, Caio Perez, Salles, Mariana Vallim, Pesquero, João Bosco, Sallum, Juliana Maria Ferraz   +5 more
openaire   +2 more sources