Non‐syndromic, autosomal‐recessive deafness
MB Petersen, PJ Willems - Clinical genetics, 2006 - Wiley Online Library
Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …
[HTML][HTML] Autosomal recessive nonsyndromic deafness genes: a review
More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
A large genome-wide association study of age-related hearing impairment using electronic health records
TJ Hoffmann, BJ Keats, N Yoshikawa, C Schaefer… - PLoS …, 2016 - journals.plos.org
Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be
mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we …
mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we …
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage
of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13. 31-q21. 1 within the …
of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13. 31-q21. 1 within the …
[HTML][HTML] Genetic hearing loss and gene therapy
NT Carpena, MY Lee - Genomics & informatics, 2018 - ncbi.nlm.nih.gov
Genetic hearing loss crosses almost all the categories of hearing loss which includes the
following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital …
following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital …
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
AP Nagtegaal, L Broer, NR Zilhao, J Jakobsdottir… - Scientific reports, 2019 - nature.com
Previous research has shown that genes play a substantial role in determining a person's
susceptibility to age-related hearing impairment. The existing studies on this subject have …
susceptibility to age-related hearing impairment. The existing studies on this subject have …
Tight junctions in the auditory system: structure, distribution and function
X Gao, C Chen, S Shi, F Qian, D Liu… - Current Protein and …, 2023 - ingentaconnect.com
Tight junctions act as a barrier between epithelial cells to limit the transport of the
paracellular substance, which is a required function in various tissues to sequestrate diverse …
paracellular substance, which is a required function in various tissues to sequestrate diverse …
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population
Hearing impairment is the common human sensorineural disorder and is a genetically
heterogeneous phenotype for which more than 100 genomic loci have been mapped so far …
heterogeneous phenotype for which more than 100 genomic loci have been mapped so far …
Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families
Blood samples were taken from affected individuals, normal siblings and parents. DNA was
extracted from blood samples using the salting out method (Miller et al. 1988). Families were …
extracted from blood samples using the salting out method (Miller et al. 1988). Families were …
Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic …
J An, J Yang, Y Wang, Y Wang, B Xu, G Xie… - Frontiers in …, 2019 - frontiersin.org
Hereditary hearing impairment is one of the major and common birth defects in Chinese
population. Non-syndromic sensorineural hearing loss (NSHL) is the most common types of …
population. Non-syndromic sensorineural hearing loss (NSHL) is the most common types of …