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
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Title
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
Authors
Keywords
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Journal
Frontiers in Genetics
Volume 8, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2017-06-30
DOI
10.3389/fgene.2017.00095
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Related references
Note: Only part of the references are listed.- TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss
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- 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
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- ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42
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- Genetic investigations in childhood deafness
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- 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
- Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder
- (2013) Jernej Kovač et al. Autism Research
- Next-Generation Sequencing in Genetic Hearing Loss
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- Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia
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- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2 - tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis
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- Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
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- Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
- (2011) Guntram Borck et al. AMERICAN JOURNAL OF HUMAN GENETICS
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