(Q48200653)

English

The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen

scientific article published on November 15, 1991

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/1718984

The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen (English)

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10.1016/S0021-9258(18)54712-8

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7 November 2022

osteogenesis imperfecta

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7 November 2022

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10.1016/S0021-9258(18)54712-8

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7 November 2022

author name string

Levi-Minzi SA

5

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9 February 2018

http://europepmc.org/abstract/MED/1718984

Gonzalez-Lavin L

6

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9 February 2018

http://europepmc.org/abstract/MED/1718984

S. B. Deak

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1718984

7 November 2022

P. M. Scholz

2

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7 November 2022

P. S. Amenta

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7 November 2022

C. D. Constantinou

4

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7 November 2022

S. A. Levi-Minzi

5

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7 November 2022

L. Gonzalez-Lavin

6

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7 November 2022

J. W. Mackenzie

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7 November 2022

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1 November 1991

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15 November 1991

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National Center for Biotechnology Information

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1718984

7 November 2022

full work available at URL

http://intl.jbc.org/cgi/content/abstract/266/32/21827

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7 November 2022

https://api.elsevier.com/content/article/PII:S0021925818547128?httpAccept=text/xml

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10.1016/S0021-9258(18)54712-8

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7 November 2022

https://api.elsevier.com/content/article/PII:S0021925818547128?httpAccept=text/plain

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10.1016/S0021-9258(18)54712-8

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7 November 2022

Journal of Biological Chemistry

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9 February 2018

http://europepmc.org/abstract/MED/1718984

266

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Europe PubMed Central

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9 February 2018

http://europepmc.org/abstract/MED/1718984

32

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Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/1718984

21827-21832

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/1718984

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

2

1 reference

10.1016/S0021-9258(18)54712-8

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

4

1 reference

10.1016/S0021-9258(18)54712-8

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7 November 2022

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

12

1 reference

10.1016/S0021-9258(18)54712-8

https://api.crossref.org/works/10.1016/S0021-9258(18)54712-8

7 November 2022

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

13

1 reference

10.1016/S0021-9258(18)54712-8

https://api.crossref.org/works/10.1016/S0021-9258(18)54712-8

7 November 2022

The A and B fragments of normal type I procollagen have a similar thermal stability to proteinase digestion but are selectively destabilized by structural mutations.

14

1 reference

10.1016/S0021-9258(18)54712-8

https://api.crossref.org/works/10.1016/S0021-9258(18)54712-8

7 November 2022

Ribonucleic acid isolated by cesium chloride centrifugation

15

1 reference

10.1016/S0021-9258(18)54712-8

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Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta

17

1 reference

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7 November 2022

CARDIOVASCULAR ABNORMALITIES IN OSTEOGENESIS IMPERFECTA

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1 reference

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Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfecta

22

1 reference

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7 November 2022

Osteogenesis imperfecta in childhood: cardiac and renal manifestations

23

1 reference

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7 November 2022

Cardiovascular pathology in osteogenesis imperfecta type IIA with a review of the literature

24

1 reference

10.1016/S0021-9258(18)54712-8

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7 November 2022

Cardiovascular involvement in osteogenesis imperfecta

25

1 reference

10.1016/S0021-9258(18)54712-8

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7 November 2022

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

26

1 reference

10.1016/S0021-9258(18)54712-8

https://api.crossref.org/works/10.1016/S0021-9258(18)54712-8

7 November 2022

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

27

1 reference

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7 November 2022

Influence of different tripeptides on the stability of the collagen triple helix. I. Analysis of the collagen sequence and identification of typical tripeptides

30

1 reference

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https://api.crossref.org/works/10.1016/S0021-9258(18)54712-8

7 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/1718984

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