(Q58608244)

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634225%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634225%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

osteogenesis imperfecta

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Antonella Sangalli

2

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22 September 2019

author name string

M Mottes

1

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22 September 2019

M Valli

3

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22 September 2019

M Gomez Lira

4

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22 September 2019

R Tenni

5

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22 September 2019

P Buttitta

6

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22 September 2019

P F Pignatti

7

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22 September 2019

G Cetta

8

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22 September 2019

publication date

1 July 1992

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22 September 2019

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22 September 2019

89

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22 September 2019

5

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22 September 2019

480-484

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22 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00219169

0 references

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperati

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The CpG dinucleotide and human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino aci

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634225

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00219169

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634225%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634225%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

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