About: Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta

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About: Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta Goto Sponge NotDistinct Permalink

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scientific article published on 01 June 1983

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 1983 (uk) article scientifique publié en 1983 (fr) im Juni 1983 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunu de 1983 (ast) scientific article published on 01 June 1983 (en)
publication date	wds:Q71766817-59671902-B4B7-44A7-A424-DE2C2110B69E
publication date	1983-06-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q71766817-6B8FDFD1-FD36-4230-8D10-73F1BAABCD68
language of work or name	English
author name string	wds:Q71766817-098F4A3E-441F-4498-AC3C-B486497FD39F wds:Q71766817-20811F9E-4DD4-496A-8E29-CE6D9EB909E7 wds:Q71766817-25679BCA-9A86-4599-9745-D5A67F489E1E wds:Q71766817-27508D3D-C5E2-4B3D-92B0-D53072349BF5 wds:Q71766817-9FC6DFD2-88D1-4B4F-A2C9-C1CBE72FA1A1
author name string	Kelly TE Prockop DJ Myers J Pihlajaniemi T de Wet WJ
rdfs:label	Synthesis of a shortened pro-alpha 2 (nl) Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta (en)
skos:prefLabel	Synthesis of a shortened pro-alpha 2 (nl) Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta (en)
name	Synthesis of a shortened pro-alpha 2 (nl) Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta (en)
title	wds:Q71766817-0FDC71CA-976B-4FF3-9319-6E26881018F2
title	Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta (en)
page(s)	wds:Q71766817-F97837CA-2BB0-4676-A547-AD62C2F3625E
page(s)	7721-7728
instance of	wds:Q71766817-3FA462D4-546F-4377-A7F0-9F04700AD0AD
instance of	scholarly article
main subject	wds:Q71766817-0AFD7CAF-EB17-49F3-84B4-1B9F38506C85
main subject	osteogenesis imperfecta
PubMed ID	wds:Q71766817-61791ABF-1F84-4F52-A929-1871847C98C1
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/6863261
PubMed ID	6863261
published in	wds:Q71766817-9E3A8A28-7287-47A4-A764-D841952B02F1
published in	Journal of Biological Chemistry
issue	wds:Q71766817-8FACC7CC-76C2-45F3-B4F0-7E2DF0D4CC99
volume	wds:Q71766817-9CCEBE54-BC5B-4651-B70B-215029D35FFF
issue	12
volume	258
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71766817
is cites work of	Osteogenesis imperfecta Analysis of the promoter region and the N-propeptide domain of the human pro alpha 2(I) collagen gene Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate 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 Restricted homology between human alpha 1 type IV and other procollagen chains Collagen genes and inherited connective tissue disease Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene Two new polymorphic markers in the human pro alpha 2(1) collagen gene. Osteogenesis imperfecta: translation of mutation to phenotype Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta Osteonectin, bone proteoglycan, and phosphophoryn defects in a form of bovine osteogenesis imperfecta Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta Two bovine models of osteogenesis imperfecta exhibit decreased apatite crystal size. Mutations in collagen genes. Consequences for rare and common diseases Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I 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 Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta Partial characterization of a low molecular weight human collagen that undergoes alternative splicing 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 Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. Mineralized tissue protein profiles in the Australian form of bovine osteogenesis imperfecta Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta Collagen genes and proteins in osteogenesis imperfecta Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype 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 Osteonectin content in human osteogenesis imperfecta bone shows a range similar to that of two bovine models of OI Skin collagen defects in a patient with juvenile hyaline fibromatosis 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 Compositional analysis of collagen from patients with diverse forms of osteogenesis imperfecta Osteogenesis imperfecta: a heterogeneous morphologic phenotype in cultured dermal fibroblasts Increased expression of the gene for the pro alpha 1(IV) chain of basement-membrane procollagen in cultured skin fibroblasts from two variants of osteogenesis imperfecta
is cites work of	wds:Q24567730-869C5ED0-6D9C-448A-80B2-208A306FC140 wds:Q34548125-6D658EBC-7632-48ED-81D3-8B0EAC9CCFEA wds:Q35246037-2B2F1DB2-102A-4A13-999A-22DF81B0B3B4 wds:Q53905610-218584D4-756D-4558-9B03-F47FA9FA33BB wds:Q59409623-FAB6B86F-257F-4780-91B7-EC0032E4375E wds:Q70274641-D0B0A6F0-000F-4500-8462-D27F3CDE13D2 wds:Q92300968-A2DB81BE-07BA-4DA7-855A-E31A2011989D wds:Q24616547-B89466B9-772D-424C-ABFA-FE696D18B631 wds:Q34549103-3FA339A2-955C-4687-94D3-A8CA3FD3AE0D wds:Q33672258-675D8A64-2B41-4FCC-8C09-F59367476ECE wds:Q36455884-3E45B638-5495-4C0B-A08F-E3C97ECC17F4 wds:Q36142533-8D3D6836-CED0-43A5-B6F9-53F7EF3B6AB4 wds:Q37395197-F73582BB-D725-4F52-A493-6F334A187AD6 wds:Q37686409-89B55CB5-828B-451F-9A9B-784A49C14081 wds:Q70340556-1FA03D16-66D3-4457-96F8-846F9FB65BD3 wds:Q24515006-2B9F1E9F-5E34-4C51-8145-96ABF1FAE039

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