(Q41109619)

26 September 2017

A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1511982

3 October 2022

main subject

osteogenesis imperfecta

0 references

author name string

J. Bonaventure

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1511982

3 October 2022

L. Cohen-Solal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1511982

3 October 2022

C. Lasselin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1511982

3 October 2022

P. Maroteaux

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1511982

3 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1511982

3 October 2022

publication date

1 August 1992

1 reference

26 September 2017

1 reference

26 September 2017

89

1 reference

26 September 2017

6

1 reference

26 September 2017

640-646

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00221955

26 September 2017

0 references

cites work

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

1 reference

12 December 2020

Recurrence risk of a new dominant mutation in children of unaffected parents

1 reference

12 December 2020

[Microdetermination of hydroxyproline with chloramine-T and p-dimethylaminobenzaldehyde]

1 reference

12 December 2020

Bone disease cracks genetics

1 reference

12 December 2020

Molecular analysis of hemophilia A mutations in the Finnish population

1 reference

12 December 2020

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

12 December 2020

RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation

1 reference

12 December 2020

Inherited disorders of collagen gene structure and expression

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular weight determination of membrane protein and glycoprotein subunits by discontinuous gel electrophoresis in dodecyl sulfate

1 reference

12 December 2020

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

12 December 2020

Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta

1 reference

12 December 2020

Detection and localization of base changes in RNA using a chemical cleavage method

1 reference

12 December 2020

Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1)

1 reference

12 December 2020

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

1 reference

12 December 2020

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

1 reference

12 December 2020

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

12 December 2020

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

12 December 2020

Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution.

1 reference

12 December 2020

Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III)

1 reference

12 December 2020

Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix

1 reference

12 December 2020

A new lethal brittle bone syndrome with increased amount of type V collagen in a patient.

1 reference

12 December 2020

Proteolytic enzymes as probes for the triple-helical conformation of procollagen

1 reference

12 December 2020

Fibrillar collagen genes. Structure and expression in normal and diseased states

1 reference

12 December 2020

Dominant mutations in familial lethal and severe osteogenesis imperfecta

1 reference

12 December 2020

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

1 reference

12 December 2020

Preparation and characterization of the different types of collagen

1 reference

12 December 2020

Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth

1 reference

12 December 2020

The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen

1 reference

12 December 2020

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

1 reference

12 December 2020

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

1 reference

12 December 2020

Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00221955

1 reference

Dimensions Publication ID

26 September 2017

0 references

1 reference