The clinical spectrum of type IV collagen mutations
نویسندگان
چکیده
منابع مشابه
Study of Basement Membrane Type IV Collagen Appearance in the Brain Choroids Plexus of Mouse Fetuses
Introduction & Objective: The brain choroids plexus (BCP) plays an important role in the cerebrospinal fluid (CSF) production, but its characterization is still incomplete. Collagen type IV, is one of the most important proteins of basement membrane (BM) and extracellular matrix (ECM) of BCP. In the present study we investigated the differential period of type IV collagen in basement membrane...
متن کاملThe Role of Type IV Collagen in Developing Lens in Mouse Fetuses
Objective(s) Extracellular matrix (ECM) and basement membrane (BM) play important roles in many developmental processes during development and after birth. Among the components of the BM, collagen fibers specially type IV are the most important parts. The aim of this study was to determine the time when collagen type IV appears in the BM of lens structure during mouse embryonic development. M...
متن کاملCharacterization of α1(IV) Collagen Mutations in Caenorhabditis elegans and the Effects of α1 and α2(IV) Mutations on Type IV Collagen Distribution
Type IV collagen is a major component of basement membranes. We have characterized 11 mutations in emb-9, the alpha1(IV) collagen gene of Caenorhabditis elegans, that result in a spectrum of phenotypes. Five are substitutions of glycines in the Gly-X-Y domain and cause semidominant, temperature-sensitive lethality at the twofold stage of embryogenesis. One is a glycine substitution that causes ...
متن کاملthe investigation of the relationship between type a and type b personalities and quality of translation
چکیده ندارد.
Study of Expression Type Iv Collagen During Mouse Kidney Ubulogenesis in Balb/C Mouse
Purpose: In this study specific antibody have been used for tracing type IV collagen basement membrane during renal tubules morphogenesis in mouse fetuses. Materials and Methods: 20 female Balb/C mice were selected randomly and were kept under normal condition, finding vaginal plug was assumed as day zero of pregnancy. 12 pregnant mice were scarified by cervical dislocation in one of gestationa...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1997
ISSN: 1059-7794,1098-1004
DOI: 10.1002/(sici)1098-1004(1997)9:6<477::aid-humu1>3.3.co;2-h