(Q50536645)

English

Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.

scientific article published in August 1996

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix. (English)

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

osteogenesis imperfecta

0 references

John F. Bateman

6

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

author name string

Mundlos S

1

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

Chan D

2

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

Weng YM

3

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

Sillence DO

4

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

Cole WG

5

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

language of work or name

0 references

publication date

1 August 1996

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

Journal of Biological Chemistry

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

271

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

35

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

21068-21074

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Molecular heterogeneity in osteogenesis imperfecta type I.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Natural history of blue sclerae in osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Collagen defects in lethal perinatal osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Purification of human leucocyte DNA: proteinase K is not necessary

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Intracellular degradation of newly synthesized secretory proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Extracellular matrix formation by osteoblasts from patients with osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Unique side-chain conformation encoding for chirality and azimuthal orientation in the molecular packing of skin collagen

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Cross-linking in collagen and elastin

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Mutations that alter the primary structure of type I procollagen have long-range effects on its cleavage by procollagen N-proteinase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Pleomorphism in type I collagen fibrils produced by persistence of the procollagen N-propeptide

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine ?1(I) 901 substitution in a type-I collagen gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Heterogeneity of osteogenesis imperfecta type I.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Deposition and selective degradation of structurally-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Comprehensive analysis of collagen metabolism in vitro using [4(3H)]/[14C]proline dual-labeling and polyacrylamide gel electrophoresis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Rapid and quantitative preparation of cytoplasmic RNA from small numbers of cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

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/10.1074%2FJBC.271.35.21068

21 January 2018

Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Cross-linking connectivity in bone collagen fibrils: the carboxy-terminal locus of free aldehyde

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.35.21068

21 January 2018

Identifiers

10.1074/JBC.271.35.21068

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

1 reference

Europe PubMed Central

15 March 2018

http://europepmc.org/abstract/MED/8702873

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q50536645&oldid=1363022976"