Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta (Q36125438)

12 August 2017

Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta (English)

1 reference

12 August 2017

osteogenesis imperfecta

0 references

author name string

S D Chipman

1

1 reference

12 August 2017

H O Sweet

2

1 reference

12 August 2017

D J McBride

3

1 reference

12 August 2017

M T Davisson

4

1 reference

12 August 2017

S C Marks

5

1 reference

12 August 2017

A R Shuldiner

6

1 reference

12 August 2017

R J Wenstrup

7

1 reference

12 August 2017

D W Rowe

8

1 reference

12 August 2017

J R Shapiro

9

1 reference

12 August 2017

language of work or name

English

0 references

publication date

1 March 1993

1 reference

Proceedings of the National Academy of Sciences of the United States of America

12 August 2017

1 reference

12 August 2017

90

1 reference

12 August 2017

5

1 reference

12 August 2017

1701-1705

1 reference

Osteonectin, bone proteoglycan, and phosphophoryn defects in a form of bovine osteogenesis imperfecta

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Rescue of type I collagen-deficient phenotype by retroviral-vector-mediated transfer of human pro alpha 1(I) collagen gene into Mov-13 cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Introduction of the human pro alpha 1(I) collagen gene into pro alpha 1(I)-deficient Mov-13 mouse cells leads to formation of functional mouse-human hybrid type I collagen

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Osteogenesis imperfecta: the molecular basis of clinical heterogeneity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Retrovirus-induced de novo methylation of flanking host sequences correlates with gene inactivity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Construction of a Full-Length Murine Proα2(I) Collagen cDNA by the Polymerase Chain Reaction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

A practical radiologic approach to skeletal dysplasias in infancy.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Two bovine models of osteogenesis imperfecta exhibit decreased apatite crystal size

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Bone fragility in a kitten: an osteogenesis imperfecta-like syndrome.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Calcium, iron, copper, boron, collagen, and density changes in bone with aging in C57BL/6J male mice

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Retrovirus-induced interference with collagen I gene expression in Mov13 fibroblasts is maintained in the absence of DNA methylation

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

Retrovirus-induced lethal mutation in collagen I gene of mice is associated with an altered chromatin structure

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=48637

The estimation of two collagens from human dermis by interrupted gel electrophoresis

23 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrence risk in osteogenesis imperfecta congenita

1 reference

12 December 2020

The morbid anatomy of the skeleton in osteogenesis imperfecta

1 reference

12 December 2020

Fragilitas ossium: a new autosomal recessive mutation in the mouse

1 reference

12 December 2020

Heritable bone fragility, joint laxity and dysplastic dentin in Friesian calves: a bovine syndrome of osteogenesis imperfecta

1 reference

12 December 2020

The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen

1 reference

12 December 2020

Altered helical structure of a homotrimer of alpha 1(I)chains synthesized by fibroblasts from a variant of osteogenesis imperfecta

1 reference

12 December 2020

Direct cloning and sequence analysis of enzymatically amplified genomic sequences

1 reference

12 December 2020

Mineralized tissue protein profiles in the Australian form of bovine osteogenesis imperfecta

1 reference

12 December 2020

Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility

1 reference

12 December 2020

Biochemical heterogeneity of osteogenesis imperfecta: New variant

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.90.5.1701

1 reference

release_mxooff5gj5cc5er4mugojc2doq

12 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mxooff5gj5cc5er4mugojc2doq

24 November 2022

mapped directly with Wikidata item

1 reference

12 August 2017

PubMed publication ID

8446583

1 reference