4.6 Article

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the ZNF335 Gene

Ali Reza Tavasoli et al.

Summary: This study describes two siblings with microcephaly, one with primary microcephaly and one with secondary microcephaly, who both have the same genetic variant in the ZNF335 gene. Whole-exome sequencing and segregation analysis confirmed the variant and predicted its damaging effect.

JOURNAL OF MOLECULAR NEUROSCIENCE (2022)

Article Biotechnology & Applied Microbiology

CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family

Hao Huang et al.

Summary: This study investigated a Chinese family with HCM and identified a nonsense mutation in the CSRP3 gene through WES and Sanger sequencing, leading to a truncated protein. This is the first case of this variation in Asia, contributing to genetic diagnosis and counseling for the family.

JOURNAL OF GENE MEDICINE (2022)

Article Pediatrics

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly

Tao Wang et al.

Summary: In this study, a novel variant in the TMEM231 gene was identified through WES in a fetus with unexplained hypoplasia of the cerebellar vermis and polydactyly. This discovery not only provided genetic counseling and prenatal diagnosis data for the family, but also expanded the spectrum of TMEM231 mutations.

FRONTIERS IN PEDIATRICS (2021)

Article Biotechnology & Applied Microbiology

Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of -spectrin in a Chinese family with hereditary spherocytosis

Liang-Liang Fan et al.

JOURNAL OF GENE MEDICINE (2019)

Review Pediatrics

Cardiomyopathy in the pediatric patients

Shi-Min Yuan

PEDIATRICS AND NEONATOLOGY (2018)

Article Cardiac & Cardiovascular Systems

Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect

Andreas Brodehl et al.

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2016)

Article Medicine, Research & Experimental

Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy

Yue Zhao et al.

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2015)

Review Cell Biology

Desmin in muscle and associated diseases: beyond the structural function

Karim Hnia et al.

CELL AND TISSUE RESEARCH (2015)

Article Biochemistry & Molecular Biology

Dual Color Photoactivation Localization Microscopy of Cardiomyopathy-associated Desmin Mutants

Andreas Brodehl et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Article Biochemistry & Molecular Biology

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Baerbel Klauke et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biochemistry & Molecular Biology

Divalent Cations Crosslink Vimentin Intermediate Filament Tail Domains to Regulate Network Mechanics

Yi-Chia Lin et al.

JOURNAL OF MOLECULAR BIOLOGY (2010)

Article Multidisciplinary Sciences

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages

H Bär et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Physiology

Desmin-related myopathies in mice and man

L Carlsson et al.

ACTA PHYSIOLOGICA SCANDINAVICA (2001)