G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss
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چکیده
منابع مشابه
G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss
UNLABELLED We report a novel protein domain-G8-which contains five repeated beta-strand pairs and is present in some disease-related proteins such as PKHD1, KIAA1199, TMEM2 as well as other uncharacterized proteins. Most G8-containing proteins are predicted to be membrane-integral or secreted. The G8 domain may be involved in extracellular ligand binding and catalysis. It has been reported that...
متن کاملEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
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...
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Introduction: Sudden sensorineural hearing-loss (SSNHL) patients constitute approximately 2–3% of referrals to ear, nose and throat (ENT) clinics. Several predisposing factors have been proposed for this condition; one of which is vascular disorders and perfusion compromise. In this research the atherosclerotic changes and their known risk factors are studied in SSNHL patients. Materials and ...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2006
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/btl123