Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province

(2018) Sonia Talbi et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

(2018) Andrea M. Oza et al.   HUMAN MUTATION

The genetic basis of deafness in populations of African descent

(2017) Jason R. Rudman et al.   Journal of Genetics and Genomics

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

(2017) Amina Bakhchane et al.   PLoS One

Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins

(2017) Jianchao Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Myosin 7 and its adaptors link cadherins to actin

(2017) I-Mei Yu et al.   Nature Communications

ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation

(2016) Scott W. Crawley et al.   DEVELOPMENTAL CELL

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss

(2016) Siqi Chen et al.   Genetic Testing and Molecular Biomarkers

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

(2016) Demet Tekin et al.   HEARING RESEARCH

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

(2016) Denise Yan et al.   HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The tip-link molecular complex of the auditory mechano-electrical transduction machinery

(2015) Elise Pepermans et al.   HEARING RESEARCH

Structure and Regulation of the Movement of Human Myosin VIIA

(2015) Tsuyoshi Sakai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Intestinal Brush Border Assembly Driven by Protocadherin-Based Intermicrovillar Adhesion

(2014) Scott W. Crawley et al.   CELL

Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis

(2014) B. Blanco-Sanchez et al.   Disease Models & Mechanisms

Integrating the active process of hair cells with cochlear function

(2014) A. J. Hudspeth   NATURE REVIEWS NEUROSCIENCE

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

(2013) Zippora Brownstein et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A

(2013) Salma Ben-Salem et al.   MOLECULAR BIOLOGY REPORTS

Molecular Remodeling of Tip Links Underlies Mechanosensory Regeneration in Auditory Hair Cells

(2013) Artur A. Indzhykulian et al.   PLOS BIOLOGY

Large Protein Assemblies Formed by Multivalent Interactions between Cadherin23 and Harmonin Suggest a Stable Anchorage Structure at the Tip Link of Stereocilia

(2012) Lin Wu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Accurate and exact CNV identification from targeted high-throughput sequence data

(2011) Alex S Nord et al.   BMC GENOMICS

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

(2011) Rosemary I. Kabahuma et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Phospholipid-dependent regulation of the motor activity of myosin X

(2011) Nobuhisa Umeki et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

(2011) Crystel Bonnet et al.   Orphanet Journal of Rare Diseases

Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction

(2011) M. Grati et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure of MyTH4-FERM Domains in Myosin VIIa Tail Bound to Cargo

(2011) L. Wu et al.   SCIENCE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Variable hearing impairment in a DFNB2 family with a novelMYO7Amissense mutation

(2010) MS Hildebrand et al.   CLINICAL GENETICS

Screening of 38 Genes Identifies Mutations in 62% of Families with Nonsyndromic Deafness in Turkey

(2010) Duygu Duman et al.   Genetic Testing and Molecular Biomarkers

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

(2010) Amel Bahloul et al.   HUMAN MOLECULAR GENETICS

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

(2010) Sandie Le Guédard-Méreuze et al.   HUMAN MUTATION

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

(2010) Christel Vaché et al.   HUMAN MUTATION

Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

(2010) Yi Sun et al.   JOURNAL OF HUMAN GENETICS

Tip links in hair cells: molecular composition and role in hearing loss

(2009) Hirofumi Sakaguchi et al.   Current Opinion in Otolaryngology & Head and Neck Surgery

Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

(2009) Fatima Ammar-Khodja et al.   European Journal of Medical Genetics

A FERM domain autoregulates Drosophila myosin 7a activity

(2009) Y. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unconventional myosins acting unconventionally

(2009) Sarah Woolner et al.   TRENDS IN CELL BIOLOGY

Mutation spectrum ofMYO7Aand evaluation of a novel nonsyndromic deafnessDFNB2allele with residual function

(2008) Saima Riazuddin et al.   HUMAN MUTATION

Unc45 Activates Hsp90-dependent Folding of the Myosin Motor Domain

(2008) Li Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY