About: Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

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About: Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia Goto Sponge NotDistinct Permalink

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scientific article published on 01 July 1993

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 1993 (uk) im Juli 1993 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunetu de 1993 (ast) scientific article published on 01 July 1993 (en)
publication date	wds:Q72816780-91371A41-5D22-4FED-9CCD-9FEDC26BAC77
publication date	1993-07-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q72816780-D6CC2DB1-D3F6-4E41-BC40-1674FE4BD552
language of work or name	English
author name string	wds:Q72816780-4578951A-2B0E-4278-AF73-5684D7E5BEDD wds:Q72816780-97D7966A-09CD-45A2-8172-EF6745E7958F wds:Q72816780-A76C3100-DF9F-45AA-8688-EC74CB9ED1BD
author name string	Chan D Cole WG Taylor TK
rdfs:label	Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia (en) Characterization of an arginine 789 to cysteine substitution in alpha 1 (nl)
skos:prefLabel	Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia (en) Characterization of an arginine 789 to cysteine substitution in alpha 1 (nl)
name	Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia (en) Characterization of an arginine 789 to cysteine substitution in alpha 1 (nl)
title	wds:Q72816780-CEE3E0E5-008F-4431-A9F2-F12563C1CA62
title	Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia (en)
page(s)	wds:Q72816780-4ED0B5AA-F7E3-4AC3-A63D-4EFEB3F25E29
page(s)	15238-15245
instance of	wds:Q72816780-C9416C5B-3478-47C2-BC3A-A65E58E4AA0F
instance of	scholarly article
PubMed ID	wds:Q72816780-BF1E05C9-B205-4C73-A44A-EC1CA5E3186B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8325895
PubMed ID	8325895
published in	wds:Q72816780-434D34DC-3E25-4746-A38D-77733CBDA80E
published in	Journal of Biological Chemistry
issue	wds:Q72816780-9C080B9E-B211-4AEE-BCB3-9B48E58154CF
volume	wds:Q72816780-5B1ADBD7-C7A8-4E8C-A850-BBFB6BFB998D
issue	20
volume	268
number of pages	wds:Q72816780-31D1E568-FC67-4624-BE67-710A50A4803F
number of pages	8 (xsd:decimal)
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q72816780
is cites work of	Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants The type II collagenopathies: a spectrum of chondrodysplasias Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis Reducing the effects of intracellular accumulation of thermolabile collagen II mutants by increasing their thermostability in cell culture conditions The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders Collagen II is essential for the removal of the notochord and the formation of intervertebral discs An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis Mutations in the alpha 2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities. Prospects and limitations of improving skeletal growth in a mouse model of spondyloepiphyseal dysplasia caused by R992C (p.R1192C) substitution in collagen II. The role of structural genes in the pathogenesis of osteoarthritic disorders Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival. The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution. Genetic aspects of familial osteoarthritis The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships
is cites work of	wds:Q34581991-1BDC789A-231F-41C5-8EF3-759C1B44F8D7 wds:Q24539139-591937A9-73EC-4347-A353-F96BF016038D wds:Q24534459-53A5BF2E-1E0F-4267-8270-8B56FAC14589 wds:Q33768300-1BB1F768-2229-43C7-8BDF-2B1D1568C4CB wds:Q33886614-179CEB6F-0E40-48D4-A0FB-9419967539A0 wds:Q36275783-76587123-BF1D-4C3F-91B8-D7EF0E34CC24 wds:Q36930035-D6932751-6191-46F7-BADF-B79696F6063E wds:Q50034063-1CEA8255-2AC5-4DB3-B1D4-401B9CE640B5 wds:Q24303717-6D195A44-9A44-4DB1-B699-7E7180727520 wds:Q33823848-604AD274-A288-4C1F-9DB9-9C9AC3973BBF wds:Q37358545-939B182E-DCF3-4DD7-8A17-FDFA2D729F27 wds:Q40739827-088FA41E-F6BE-4258-B22E-7749C9D5C5EA wds:Q40253433-60EE44AE-9C01-4568-8113-E5ABA7B3F8D8 wds:Q24793861-350F4FE8-1F04-44D0-B79F-B0BB351AE68B wds:Q28512869-4460DBB6-3245-4104-B6A9-B227D536DC7A wds:Q35747119-5C1C4337-BF71-43BB-A31E-D01864E66814 wds:Q33566848-2CE45A53-5722-46FA-B84F-0F502FF5A252 wds:Q42825662-B14C57FB-50A2-4159-BA4C-D317E2C554E4 wds:Q24681239-00B02105-1EDC-4169-BD8D-10A84FE4C8CF wds:Q35777781-575CF693-754E-48B9-A667-F37063D34587 wds:Q37634533-1A902B3C-0628-463B-8F28-1FC53EA0AF5E wds:Q35647747-F5C4D4EA-D07A-4BAE-B431-8564ED3E3790 wds:Q52720562-603F53BC-21D3-4570-B779-1EDE4D525A23

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