4.6 Article

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

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。
Review Cell Biology

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

Chiara Chiereghin et al.

Summary: Hearing relies on the proper functioning of auditory hair cells and cytoskeletal structures. Diaphanous-related formins (DRFs) play important roles in metazoan development and the correct physiology of the reproductive and auditory systems. Mutations in DRF genes can cause sterility and impaired response to sound in fruit flies and vertebrates. In humans, defects in DIAPH1 and DIAPH3 are associated with different types of hearing loss, including deafness and auditory neuropathy.
Article Genetics & Heredity

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Barbara Vona et al.

Summary: The study identified CLRN2 as a new deafness gene by clinical and genetic analysis of an extended consanguineous family, revealing a likely pathogenic missense variant in the gene. The findings suggest that clarin 2, expressed in inner ear hair cells, is essential for normal organization and maintenance of auditory hair bundles, and for hearing function. This discovery will impact future diagnosis and treatment for deaf patients.

HUMAN GENETICS (2021)

Article Multidisciplinary Sciences

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

Amal Souissi et al.

Summary: This study investigated the genetic causes of non-GJB2 hearing impairment in Tunisian individuals using a customized enrichment panel, revealing several pathogenic variants and expanding the understanding of ARNSHI etiology.

JOURNAL OF ADVANCED RESEARCH (2021)

Article Genetics & Heredity

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

Chiara Chiereghin et al.

Summary: Inherited hearing loss is highly heterogeneous both clinically and genetically, with significant differences in the spectrum of deafness-causing genetic variants among different populations. By utilizing genome-wide linkage analysis and exome sequencing, this study identified the SLC22A4 gene as a significant contributor to ARSNHL in the Northwest African population. This represents the first independent replication highlighting the importance of SLC22A4 and the p.C113Y mutation in ARSNHL.

FRONTIERS IN GENETICS (2021)

Article Biochemistry & Molecular Biology

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

Neil J. Ingham et al.

PLOS BIOLOGY (2019)

Article Multidisciplinary Sciences

The ENCODE Blacklist: Identification of Problematic Regions of the Genome

Haley M. Amemiya et al.

SCIENTIFIC REPORTS (2019)

Article Biochemistry & Molecular Biology

Predicting Splicing from Primary Sequence with Deep Learning

Kishore Jaganathan et al.

Article Biochemistry & Molecular Biology

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life

Laura Rachele Bettini et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Review Neurosciences

Cellular and deafness mechanisms underlying connexin mutation-induced hearing loss - a common hereditary deafness

Jeffrey C. Wingard et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2015)

Article Multidisciplinary Sciences

Length regulation of mechanosensitive stereocilia depends on very slow actin dynamics and filament-severing proteins

Praveena Narayanan et al.

NATURE COMMUNICATIONS (2015)

Article Biochemical Research Methods

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

Daniel Quang et al.

BIOINFORMATICS (2015)

Article Biochemistry & Molecular Biology

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

A. Gulhan Ercan-Sencicek et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava et al.

NATURE GENETICS (2014)

Article Biochemistry & Molecular Biology

In silico prediction of splice-altering single nucleotide variants in the human genome

Xueqiu Jian et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Medicine, Research & Experimental

Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients

R. Teek et al.

ADVANCES IN MEDICAL SCIENCES (2013)

Article Biotechnology & Applied Microbiology

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Alberto Magi et al.

GENOME BIOLOGY (2013)

Article Biochemistry & Molecular Biology

Regulation of RhoA Signaling by the cAMP-dependent Phosphorylation of RhoGDIα

Atsuro Oishi et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Article Biochemical Research Methods

Fiji: an open-source platform for biological-image analysis

Johannes Schindelin et al.

NATURE METHODS (2012)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Review Genetics & Heredity

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J. Bamshad et al.

NATURE REVIEWS GENETICS (2011)

Review Biochemistry & Molecular Biology

Formins in cell signaling

Kevin G. Young et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2010)

Review Cell Biology

A nucleator arms race: cellular control of actin assembly

Kenneth G. Campellone et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Multidisciplinary Sciences

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

Cynthia J. Schoen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemistry & Molecular Biology

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Francois-Olivier Desmet et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Biochemistry & Molecular Biology

Structural basis of Rho GTPase-mediated activation of the formin rnDia1

T Otomo et al.

MOLECULAR CELL (2005)

Article Otorhinolaryngology

Connexin 26 gene mutations in congenitally deaf children -: Pitfalls for genetic counseling

S Marlin et al.

ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2001)