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The Adhesion family forms a large branch of the pharmacologically important superfamily of G protein-coupled receptors (GPCRs). As Adhesion GPCRs increasingly receive attention from a wide spectrum of biomedical fields, the Adhesion GPCR Consortium, together with the International Union of Basic and Clinical Pharmacology Committee on Receptor Nomenclature and Drug Classification, proposes a uni...
Until recently, all genes found to be mutated in hereditary idiopathic epilepsies encoded subunits of ion channels, leading to the view of this class of diseases as channelopathies. Two apparent exceptions to this rule are the MASS1 gene, which is mutated in the Frings mouse model of audiogenic epilepsy, and the LGI1 gene, which is mutated in autosomal dominant partial epilepsy with auditory fe...
We report a consanguineous Iranian family affected by congenital profound sensorineural deafness segregating in an autosomal recessive mode. Auditory tests implicated at least a cochlear defect in these patients. We mapped the deafness, autosomal recessive (DFNB) locus involved by linkage analysis to a 4.8 Mb region at chromosome 21q22.3-qter. Exclusion of the DFNB8/10 gene TMPRSS3, located in ...
Mutations in whirlin cause either Usher syndrome type II (USH2), a deafness-blindness disorder, or nonsyndromic deafness. The molecular basis for the variable disease expression is unknown. We show here that only the whirlin long isoform, distinct from a short isoform by virtue of having two N-terminal PDZ domains, is expressed in the retina. Both long and short isoforms are expressed in the in...
زمینه و هدف: کم‌تحرکی در مقابل آن تمرین جزء عوامل مرتبط با شاخص‌های آسیب کبدی به‌شمار می‌روند. وجود این هنوز نقش بسیاری از تمرین‌های ورزشی به‌ویژه تمرینات تناوبی مقاومتی مصرف برخی مکمل‌های غذایی جمله اسپیرولینا بر ایمنی التهابی کاملاٌ شناخته نشده است؛ بنابراین هدف پژوهش تعیین اثر هشت هفته مکمل‌دهی هوازی فعالیت بافت کبد بیان ژن CXCL1 عضلة موش‌های صحرایی نر بود.مواد روش‌ها: نیمه‌تجربی، 60 سر موش ن...
The human Usher syndrome (USH) is the most frequent cause of combined deaf-blindness. USH is genetically heterogeneous with at least 12 chromosomal loci assigned to three clinical types, USH1-3. Although these USH types exhibit similar phenotypes in human, the corresponding gene products belong to very different protein classes and families. The scaffold protein harmonin (USH1C) was shown to in...
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