About: Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

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About: Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta Goto Sponge NotDistinct Permalink

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scientific article published on 01 September 1984

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 1984 (uk) im September 1984 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 01 September 1984 (en) artículu científicu espublizáu en setiembre de 1984 (ast)
publication date	wds:Q70590789-CC311BEF-9530-469E-BA27-0CDF574618F4
publication date	1984-09-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q70590789-4DA25301-7753-4866-A58B-6BBBB248ED86
language of work or name	English
author name string	wds:Q70590789-20AD349E-8E73-40A7-A3F8-924363A64D46 wds:Q70590789-56C6D5BD-93F7-4F06-BC70-E568A30500EE wds:Q70590789-94CA9D9F-A2C0-4B87-BF31-7FFE7067F50D wds:Q70590789-97EBA4DD-29AA-41A8-AD9E-4991C888561F wds:Q70590789-C2ACFA7A-F249-405A-8289-6A6370B89653 wds:Q70590789-F1D08558-663C-4121-9485-B99120E31920
author name string	Vogel A Steinmann B Gitzelmann R Byers PH Bruckner P Rao VH
rdfs:label	Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta (en) Cysteine in the triple-helical domain of one allelic product of the alpha 1 (nl)
skos:prefLabel	Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta (en) Cysteine in the triple-helical domain of one allelic product of the alpha 1 (nl)
name	Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta (en) Cysteine in the triple-helical domain of one allelic product of the alpha 1 (nl)
title	wds:Q70590789-CE0BEAF7-D2C0-48E7-9EC9-1970515EB6A4
title	Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta (en)
page(s)	wds:Q70590789-91DB2761-3664-458E-B1FE-F8D4E9E792A9
page(s)	11129-11138
instance of	wds:Q70590789-69237887-70D6-457C-A9A4-D1CD830B1AF9
instance of	scholarly article
main subject	wds:Q70590789-8B8C7055-7F88-4AB7-8D54-5D18468BCD1F
main subject	osteogenesis imperfecta
PubMed ID	wds:Q70590789-F20EE026-7E43-4405-A9B4-DA4635D02CB9
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/6469997
PubMed ID	6469997
published in	wds:Q70590789-39E49C36-29B3-4E0F-AA6C-4A8ABCB360B6
published in	Journal of Biological Chemistry
issue	wds:Q70590789-78204169-A8B2-4EDA-9E9A-81D2D495F449
volume	wds:Q70590789-C0E3D328-E9C4-415C-A661-B44E27F35EBD
issue	17
volume	259
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q70590789
is cites work of	Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene Partial structure of the human alpha 2(IV) collagen chain and chromosomal localization of the gene (COL4A2) Collagen genes and inherited connective tissue disease Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion Genetic disorders of collagen EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13 Anthropometry of patients with osteogenesis imperfecta Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta Two bovine models of osteogenesis imperfecta exhibit decreased apatite crystal size. Introduction of the human pro alpha 1(I) collagen gene into pro alpha 1(I)-deficient Mov-13 mouse cells leads to formation of functional mouse-human hybrid type I collagen A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency Collagen metabolism in cultured osteoblasts from osteogenesis imperfecta patients Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions Co-existence of osteogenesis imperfecta and hyperparathyroidism. Prenatal diagnosis and prevention of inherited abnormalities of collagen Cysteine in the triple helical domain of the pro?2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta Dominant mutations in familial lethal and severe osteogenesis imperfecta Mineralized tissue protein profiles in the Australian form of bovine osteogenesis imperfecta Towards an in vitro fibrogenesis model of human vocal fold scarring. Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? Rescue of type I collagen-deficient phenotype by retroviral-vector-mediated transfer of human pro alpha 1(I) collagen gene into Mov-13 cells Collagen genes and proteins in osteogenesis imperfecta Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen Sequence recombination improves target specificity in a redesigned collagen peptide abc-type heterotrimer Molecular abnormalities of collagen in human disease Osteonectin content in human osteogenesis imperfecta bone shows a range similar to that of two bovine models of OI SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. The effect of bisphosphonate medication on orthodontics and orthognathic surgery in patients with osteogenesis imperfecta. A brilliant breakthrough in OI type V. Two cysteine substitutions in procollagen I: a glycine replacement near the N-terminus of alpha 1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha 2(I) chain markedly destabilizes the triple helix Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta

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