Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.
about
Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 geneOsteogenesis imperfecta: translation of mutation to phenotypeCRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisA systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 yearsCollagen XII mutation disrupts matrix structure of periodontal ligament and skin.Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IVSubstitution 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.Segregation analysis of dominant osteogenesis imperfecta in ItalyJoint hypermobility and genetic collagen disorders: are they related?Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.Analysis of mutations in the sqt-1 and rol-6 collagen genes of Caenorhabditis elegans.Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.Dominant negative mutations of the scavenger receptor. Native receptor inactivation by expression of truncated variants.Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.Molecular and genetic analyses of the Caenorhabditis elegans dpy-2 and dpy-10 collagen genes: a variety of molecular alterations affect organismal morphology.A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing oInheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1)Osteogenesis Imperfecta: A Review with Clinical Examples.Characterization of alpha1(IV) collagen mutations in Caenorhabditis elegans and the effects of alpha1 and alpha2(IV) mutations on type IV collagen distribution.Bone architecture: collagen structure and calcium/phosphorus mapsLocal amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutationsCol4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.Osteogenesis imperfecta: from phenotype to genotype and back again.Low segregation ratios in autosomal recessive disorders.Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta.Osteogenesis imperfecta and Ebstein's anomaly: a case report with autopsy findings.Fourier transform Infrared spectroscopic characterization of mineralizing type I collagen enzymatic trivalent cross-links.Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.Compositional analysis of the collagenous bone matrix. A study on adult normal and osteopenic bone tissue.Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.
P2860
Q24311919-0F17CC3C-8E43-4F81-8C59-92F245F29C82Q24515006-DE731D79-6CAF-405C-9B7B-5E410BEDAF98Q24599558-D6433818-5EC2-4B1C-933A-6CA0C07C7CCCQ26744127-7F471E00-08D4-47F1-9C5F-F08F632B2BC9Q30980324-35C88F9C-6163-4DAF-9412-93C1DE8CAE8EQ33597264-5632855B-8534-4C98-8E76-838EADAE3BE3Q33597763-0F3252AA-B91E-4BAE-BF71-EBBE97111A52Q33597818-DFD888A9-1B26-43F1-B6BC-14F27630FA60Q33634087-68E53741-94FD-404A-B364-997153EC6F5FQ33759982-E54AB4CC-92DA-49CF-80D0-7B2FBB6E8DE8Q33961974-FAAB99D4-9F0C-480D-B855-21B44B997158Q34088135-7F6CC97F-B343-4A8A-86C6-4EC368576CE0Q34171468-D5854256-AA14-474F-8024-6CC23FE67552Q34192116-23CEE3C5-FE41-4F70-AC84-C105C91824C2Q34262977-9A808C22-3D4B-48A0-BCA9-3FFBAA8861B9Q34329145-4F0122C0-33DF-46C2-B955-DF81F5888116Q34439145-E1E5495F-B7CD-4D12-AF6E-811BC995396BQ35196658-4518B707-BF50-48A9-BD54-F9E14723B8C0Q35198203-F25B3364-5E47-4ECC-AFFA-80626691F7D2Q35198283-8C8E95CB-4D1D-47C3-8761-6E5FF176DF77Q35932671-86CFE74A-769F-45F0-A157-07446E6DC41DQ36262065-79A48988-65BA-43DC-8929-21D1369F95BEQ36960825-F80428A4-B79E-4A29-A54E-B3C4E1744540Q36981267-9DCC9FBF-37CE-46A9-A161-18F0EFB64E05Q38796866-A0C0E673-359F-4177-ACE4-08CC38B6277BQ41163824-53588226-CED9-402D-9B45-F6A4BBDAAF9DQ41649811-677DD86E-4D52-4108-B718-1ADC761F2F1FQ42283485-F191ACE7-874D-4793-B3CF-E72BBAF90F85Q46115214-B0E5AFCE-7007-4AF0-A107-42B30CCAB774Q46282873-F8048556-AB2D-4F3A-B6EB-097BE2349BDEQ50014672-95743C28-9313-4139-8412-D0E2C5875434Q53769303-4E682AFB-999A-478C-AAAF-7437173A346DQ53796736-1D912DC7-88B2-4C45-8EB7-60F4497EA913
P2860
Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Type I procollagen: the gene-p ...... isorders of connective tissue.
@en
type
label
Type I procollagen: the gene-p ...... isorders of connective tissue.
@en
prefLabel
Type I procollagen: the gene-p ...... isorders of connective tissue.
@en
P2093
P356
P1476
Type I procollagen: the gene-p ...... disorders of connective tissue
@en
P2093
Constantinou CD
Dombrowski KE
Prockop DJ
P356
10.1002/AJMG.1320340112
P577
1989-09-01T00:00:00Z