About: Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen

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About: Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen Goto Sponge NotDistinct Permalink

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scientific article published on 01 May 1987

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 1987 (uk) article scientifique publié en 1987 (fr) im Mai 1987 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en mayu de 1987 (ast) scientific article published on 01 May 1987 (en)
publication date	wds:Q70341540-65BD5AE6-8BED-4909-A08C-447EEF3A1EAE
publication date	1987-05-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q70341540-07A27E26-E65C-48E3-BA1A-40B858C8ADE1
language of work or name	English
author name string	wds:Q70341540-35D743F3-54CC-4A7E-948F-7A2D0875AB4C wds:Q70341540-55E33231-49D7-4350-9213-46D23BE5219A wds:Q70341540-6961A817-1F25-4C33-8180-6BC67477AB18 wds:Q70341540-D8FFCC43-0A1C-4E03-8934-6327BECFF36E wds:Q70341540-E241046C-DC04-46F4-8597-AB7E6D510FF2
author name string	Chan D Walker ID Cole WG Rogers JG Bateman JF
rdfs:label	Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1 (nl) Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen (en)
skos:prefLabel	Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1 (nl) Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen (en)
name	Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1 (nl) Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen (en)
title	wds:Q70341540-317FA9EA-10E6-460A-B9AC-000C6B92FE71
title	Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen (en)
page(s)	wds:Q70341540-FB1B0BD6-07D7-404F-888C-74E9F8994EFC
page(s)	7021-7027
instance of	wds:Q70341540-8267D94E-92B3-4541-9DB3-C0F7C5749A1E
instance of	scholarly article
main subject	wds:Q70341540-D151432C-C619-4C18-AABD-02879E299A1D
main subject	osteogenesis imperfecta
PubMed ID	wds:Q70341540-362CE3D7-54CB-493D-A947-D6F9E074E703
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/3108247
PubMed ID	3108247
published in	wds:Q70341540-88C6244B-E970-4987-B039-10FF9F99D306
published in	Journal of Biological Chemistry
issue	wds:Q70341540-89F6E58B-008D-4F75-BF86-958720F385D4
volume	wds:Q70341540-3D59BDCA-3330-42BD-81B0-6DDE0A8713A3
issue	15
volume	262
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q70341540
is cites work of	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. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Osteogenesis imperfecta: translation of mutation to phenotype Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen Molecular and genetic analyses of the Caenorhabditis elegans dpy-2 and dpy-10 collagen genes: a variety of molecular alterations affect organismal morphology Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method 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 Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions Prenatal diagnosis and prevention of inherited abnormalities of collagen Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta Dominant mutations in familial lethal and severe osteogenesis imperfecta Mispair formation in DNA can involve rare tautomeric forms in the template The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain Marfan syndrome: absence of type I or III collagen structural defects in 25 patients
is cites work of	wds:Q35246037-B735EF45-5340-4E3E-A0A7-490C35CF70B3 wds:Q35197794-47742BF2-A7F3-49F9-9101-4BB6B545716B wds:Q33598119-B7F6D909-635E-4BA2-A2C7-DF6F09ADB661 wds:Q34241036-335C7C25-B217-4F61-97BD-F897E63CD844 wds:Q24515006-64653BB8-63B4-42D9-93D5-2F12AEA67616 wds:Q33633029-0F78310B-7388-4401-8851-A606C61DD49A wds:Q33597763-3BB4FA50-0B01-4393-8474-218C379FF728 wds:Q36070110-C3A6DAB0-8358-4D2C-B9A1-A816E7530EB9 wds:Q35198349-7C22A5E1-03F7-4B1A-83D0-A43254353ECC wds:Q35248227-E17A0E77-2D5A-4D4E-A206-298DBD407478 wds:Q33595459-D9A5DBCD-A49B-491E-9E19-C071C864E13B wds:Q67931473-58394D36-2A6F-4CC2-BA81-E00E764C595C wds:Q33597499-23561415-D03C-4CB4-8E64-60F3E88205A5 wds:Q33256783-8325BF2B-ABAA-443D-9505-D7E44239E437 wds:Q33592204-DC57B169-90C7-489A-ACC8-9F6F7CB89DF5 wds:Q35197292-1A8E7253-8879-45AF-BC87-4B7FC93D74A4 wds:Q34439145-FBFBD399-5B0F-4E40-9AC2-70A17198C770 wds:Q35197867-0871F4A4-216F-48F6-B5EF-AD40F9A955DB wds:Q38366357-99E0A31C-C504-4205-9E1C-B5A2CD5801F3 wds:Q42836550-41D976F6-5EB8-4440-ABBB-3A5080711AAE wds:Q35815832-2A863E83-F96F-49B8-AACA-4BE925F910B0 wds:Q42861740-4074A6C5-A934-4AFC-9F2A-B749BDAC5044 wds:Q67953203-F6F32699-40F1-43C6-8499-B046A8CB3D0E wds:Q68347463-C3189AE5-31D0-4343-B4B6-CBE9B07D9CF2 wds:Q34566616-3720EE8C-9211-4F06-9ABC-8F5FD93B408B wds:Q57197855-3811AA2A-E024-4159-8F0E-22F97282AC39

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