Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
about
Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changesA thrombospondin-dependent pathway for a protective ER stress responseA mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneityPseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionA mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasiaReduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMPDNA triplet repeat expansion and mismatch repairGenome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartmentPseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlationsA novel COMP mutation in a pseudoachondroplasia family of Chinese origin.An analysis of single amino acid repeats as use case for application specific background modelsPseudoachondroplastic dysplasia: an Iowa review from human to mouseA polymorphism in thrombospondin-1 associated with familial premature coronary heart disease causes a local change in conformation of the Ca2+-binding repeats.Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasiaMolecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions.The unfolded protein response and its relevance to connective tissue diseases.Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeatsLow-complexity sequences and single amino acid repeats: not just "junk" peptide sequences.Expanded complexity of unstable repeat diseases.Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways.Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.Global and local depletion of ternary complex limits translational elongation.Single amino acid repeats in signal peptides.Variants within the COMP and THBS2 genes are not associated with Achilles tendinopathy in a case-control study of South African and Australian populations.Structure and Dynamics of DNA and RNA Double Helices of CAG and GAC Trinucleotide Repeats.Endoplasmic reticulum stress caused by aggregate-prone proteins containing homopolymeric amino acids.A B-Z junction induced by an A … A mismatch in GAC repeats in the gene for cartilage oligomeric matrix protein promotes binding with the hZαADAR1 protein.Constraints and consequences of the emergence of amino acid repeats in eukaryotic proteins.Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology.
P2860
Q22254372-EE752A92-1B94-4CC8-836F-EC7F158E8E9DQ24337738-3AE2EDCD-2184-46AE-BC32-B9478B51E418Q24536139-5ABAE7C6-A1E9-4437-A9F9-2AD2034D0AEEQ24596742-DEB8FEDA-8CB0-4DB4-AA01-DE9B73B964D7Q24642755-D5206E35-BDA5-4A28-B53B-1C5DE166143AQ24653736-D7C0EE6F-B68E-46CD-99D7-7F1B515E051BQ26996542-F1EA4E6B-F8F1-4A68-80EF-ED518AF9F9A8Q27312679-FFD510F6-10C5-4307-9557-BF8CB10B113AQ28215523-211571AB-ECF9-45B7-8DC4-42252EBB6048Q31014676-414DA6F5-90A4-4820-80DA-F1DEC525B67CQ33905969-0C918FC1-7C8D-4E3C-9FE3-C093DE4F4CE9Q33939780-D3F821C4-8651-4FF5-90E3-E4BCE97E42C6Q34184346-6BCEBE9A-10CE-4168-9C99-7FDEFD88DB1EQ35099438-DA8F3B38-63B4-40E8-98C7-9F20CFC1716EQ36050548-7FAAEE40-67EE-4615-AE11-2159BCD1EFA0Q37444924-51F71BD7-B5C0-4E01-83A7-DE2E0D111F3CQ37509279-A5A7D4F7-1A4F-4651-AE46-97CF16E9EDD2Q37801840-CFF81F54-58F0-42DA-9FC0-5F8EA8D6416EQ38066802-8EF812D5-A60C-4DAB-B1AD-E5C29338E623Q39735942-CC9725D6-94C7-4480-97DE-F17B79070FC6Q40516218-7F59405F-79A5-422D-B20A-CDA96A590AF6Q41902966-25A8678D-179A-4390-9724-BB1EFB555CF4Q43012952-7998B9C0-2746-4A6B-AE23-9187522730B5Q44195854-873D493B-DBF3-441C-AFFF-1694EF768DE2Q44873785-501F692A-442B-4263-94D2-43010C81181EQ46961059-EB7BD4FE-000C-4C25-B6D2-683D41FAC0BBQ47781807-A575F8AD-AC2C-4712-9641-3092E7F24896Q47956508-AD46B6A9-D403-46DB-8758-EFC3F10D2B67Q50322999-523167BE-4B97-43F3-9572-165F96D85919
P2860
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@ast
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@en
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@nl
type
label
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@ast
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@en
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@nl
prefLabel
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@ast
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@en
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@nl
P2093
P356
P1476
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
@en
P2093
P356
10.1093/HMG/8.1.123
P407
P577
1999-01-01T00:00:00Z