Finding New Genes for Non-Syndromic Hearing Loss through an In Silico Prioritization Study
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چکیده
منابع مشابه
Finding New Genes for Non-Syndromic Hearing Loss through an In Silico Prioritization Study
At present, 51 genes are already known to be responsible for Non-Syndromic hereditary Hearing Loss (NSHL), but the knowledge of 121 NSHL-linked chromosomal regions brings to the hypothesis that a number of disease genes have still to be uncovered. To help scientists to find new NSHL genes, we built a gene-scoring system, integrating Gene Ontology, NCBI Gene and Map Viewer databases, which prior...
متن کاملInvestigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilitie...
متن کاملNew mutation haplotypes in non-syndromic hearing loss.
2. Ganz JC. The lucid interval associated with epidural bleeding: evolving understanding. J Neurosurg. 2013;118:739-45. 3. Malik NK, Makhdoomi R, Indira B, Shankar S, Sastry K. Posterior fossa extradural hematoma: our experience and review of the literature. Surg Neurol. 2007;68:155-8. 4. Su T, Lee T, Lee T, Cheng C, Lu C. Acute Clinical Deterioration of posterior fossa epidural hematoma: Clini...
متن کاملVariations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Cli...
متن کاملinvestigating seven recently identified genes in 100 iranian families with autosomal recessive non-syndromic hearing loss
objectives: hearing loss (hl) is the most common sensory disorder, and affects 1 in 1000 newborns. about 50% of hl is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (arnshl). in iran, hl is one of the most common disabilities due...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2010
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0012742