Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families

(2018) Xueling Wang et al.   NEURAL PLASTICITY

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

(2018) Lin Yang et al.   Frontiers in Genetics

Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature

(2017) Farah Talebi et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

(2017) Jernej Kovač et al.   Frontiers in Genetics

Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

(2017) Abdelaziz Tlili et al.   PLoS One

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients

(2016) Simona Marková et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

(2016) Alexander Y. Сhurbanov et al.   PLoS One

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

(2015) Guney Bademci et al.   GENETICS IN MEDICINE

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families

(2015) ZOHREH MEHRJOO et al.   JOURNAL OF GENETICS

Deficiency of Angulin-2/ILDR1, a Tricellular Tight Junction-Associated Membrane Protein, Causes Deafness with Cochlear Hair Cell Degeneration in Mice

(2015) Tomohito Higashi et al.   PLoS One

Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain

(2015) Nayoung K. D. Kim et al.   PLoS One

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

(2015) Fei Liu et al.   PLoS One

Genetic investigations in childhood deafness

(2014) Michael Parker et al.   ARCHIVES OF DISEASE IN CHILDHOOD

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population

(2014) Khushnooda Ramzan et al.   European Journal of Medical Genetics

Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42

(2014) Qing Sang et al.   HUMAN MOLECULAR GENETICS

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

(2014) Eva L. Morozko et al.   HUMAN MOLECULAR GENETICS

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

(2014) Yali Zhao et al.   PLoS One

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

(2013) Xiaoming Wei et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2 - tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis

(2012) T. Higashi et al.   JOURNAL OF CELL SCIENCE

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

(2012) Oscar Diaz-Horta et al.   PLoS One

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

(2011) Guntram Borck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

(2008) Pio D'Adamo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS