Collagens and their abnormalities in a wide spectrum of diseases.
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Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 geneDominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagenCloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramerCloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscleThe genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promotersCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionThe Fe(II)/α-ketoglutarate-dependent taurine dioxygenases from Pseudomonas putida and Escherichia coli are tetramersExtensive alternative splicing within the amino-propeptide coding domain of alpha2(XI) procollagen mRNAs. Expression of transcripts encoding truncated pro-alpha chainsA COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilagePrimary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)Computed free energy differences between point mutations in a collagen-like peptide.Collagens and collagen-related diseases.Restrictive dermopathy: report of a case and review of the literature.Ubiquitous expression of the alpha1(XIX) collagen gene (Col19a1) during mouse embryogenesis becomes restricted to a few tissues in the adult organism.Bone fragility and collagen cross-links.Alpha 1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagenECM roles in the function of metabolic tissues.Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain.Comprehensive mass spectrometric mapping of the hydroxylated amino acid residues of the α1(V) collagen chain.Atherofibrosis - a unique and common process of the disease pathogenesis of atherosclerosis and fibrosis - lessons for biomarker developmentGenetic and environmental factors affecting bone mineral density in large families.Genesis of hepatic fibrosis and its biochemical markers.Regulation of vascular integrity.Ehlers danlos syndrome - a case report.Abnormal adherence junctions in the heart and reduced angiogenesis in transgenic mice overexpressing mutant type XIII collagen.Signaling required for blood vessel maintenance: molecular basis and pathological manifestations.Epidermolysis bullosa: pathogenetic pathways from mutations to symptoms.Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases.Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity.Biosynthesis of recombinant human pro-alpha 1(III) chains in a baculovirus expression system: production of disulphide-bonded and non-disulphide-bonded species containing full-length triple helices.Quantitative polymerase chain reaction of lysyl oxidase mRNA in malignantly transformed human cell lines demonstrates that their low lysyl oxidase activity is due to low quantities of its mRNA and low levels of transcription of the respective gene.The hand and the eye.Expression and potential role of the extracellular matrix in hepatic ontogenesis: a review.Phagocytosis and remodeling of collagen matricesEffect of targeted mutation in collagen V alpha 2 gene on development of cutaneous hyperplasia in tight skin mice.The protein phosphatase inhibitor okadaic acid suppresses type I collagen gene expression in cultured fibroblasts at the transcriptional level.Expression of wild-type and modified proalpha chains of human type I procollagen in insect cells leads to the formation of stable [alpha1(I)]2alpha2(I) collagen heterotrimers and [alpha1(I)]3 homotrimers but not [alpha2(I)]3 homotrimers.Characterization of human type III collagen expressed in a baculovirus system. Production of a protein with a stable triple helix requires coexpression with the two types of recombinant prolyl 4-hydroxylase subunit.The mRNAs for the three chains of human collagen type XI are widely distributed but not necessarily co-expressed: implications for homotrimeric, heterotrimeric and heterotypic collagen molecules
P2860
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P2860
Collagens and their abnormalities in a wide spectrum of diseases.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Collagens and their abnormalities in a wide spectrum of diseases.
@en
type
label
Collagens and their abnormalities in a wide spectrum of diseases.
@en
prefLabel
Collagens and their abnormalities in a wide spectrum of diseases.
@en
P2860
P1433
P1476
Collagens and their abnormalities in a wide spectrum of diseases.
@en
P2093
Kivirikko KI
P2860
P304
P356
10.3109/07853899309164153
P407
P577
1993-04-01T00:00:00Z