(Q34081507)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

review article

1 reference

title

Collagens: building blocks at the end of the development line (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

Byers PH

series ordinal

1

1 reference

30 July 2017

publication date

1 October 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

270-279

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

The collagen superfamily.

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Structure, function and tissue forms of the C-terminal globular domain of collagen XVIII containing the angiogenesis inhibitor endostatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Endochondral ossification is dependent on the mechanical properties of cartilage tissue and on intracellular signals in chondrocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Collagen II is essential for the removal of the notochord and the formation of intervertebral discs

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Growth plate compressions and altered hematopoiesis in collagen X null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Genetic identification, sequence, and alternative splicing of the Caenorhabditis elegans alpha 2(IV) collagen gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Characterization of alpha1(IV) collagen mutations in Caenorhabditis elegans and the effects of alpha1 and alpha2(IV) mutations on type IV collagen distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Genetic localization of Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Mutation analysis and molecular genetics of epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Prolyl 4-hydroxylase is an essential procollagen-modifying enzyme required for exoskeleton formation and the maintenance of body shape in the nematode Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Genetic heterogeneity in osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Molecular heterogeneity in osteogenesis imperfecta type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Ehlers-Danlos syndrome type VII: clinical features and molecular defects

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Absence of the alpha1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Mutations in the alpha 2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580404.X

7 January 2021

10.1034/J.1399-0004.2000.580404.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11076051%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference