Collagens and their abnormalities in a wide spectrum of diseases (Q40853815)

24 September 2017

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title

Collagens and their abnormalities in a wide spectrum of diseases (English)

1 reference

24 September 2017

Kivirikko KI

1

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PubMed ID

8387797

24 September 2017

language of work or name

English

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publication date

1 April 1993

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24 September 2017

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24 September 2017

25

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24 September 2017

2

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24 September 2017

113-126

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New collagens, new concepts

24 September 2017

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

The structure and macromolecular organization of type IX collagen in cartilage

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

The family of collagen genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

FACIT collagens: diverse molecular bridges in extracellular matrices

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Heritable diseases of collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Cloning and chromosomal location of human alpha 1(XVI) collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Synteny between the loci for a novel FACIT-like collagen locus (D6S228E) and α1(IX) collagen (COL9A1) on 6q12–q14 in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Human type VII collagen: cDNA cloning and chromosomal mapping of the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

The mouse alpha 1(XII) and human alpha 1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Post-translational processing of procollagens

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3-31.2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Osteoporosis and familial idiopathic scoliosis: association with an abnormal alpha 2(I) collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Molecular genetics of Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Alport syndrome caused by a 5' deletion within the COL4A5 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Molecular genetics of epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1). A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Prolyl 4-hydroxylase, a target enzyme for drug development. Design of suppressive agents and the in vitro effects of inhibitors and proinhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Beneficial effects of inhibitors of prolyl 4-hydroxylase in CCl4-induced fibrosis of the liver in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Characterization of the human prolyl 4-hydroxylase tetramer and its multifunctional protein disulfide-isomerase subunit synthesized in a baculovirus expression system

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899309164153

10.3109/07853899309164153

21 January 2018

Identifiers

DOI

1 reference

24 September 2017

1 reference

PubMed ID

8387797