(Q57197855)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2037280%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2037280%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

main subject

osteogenesis imperfecta

0 references

author

Peter H. Byers

7

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9 October 2019

author name string

C J Pruchno

1

1 reference

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9 October 2019

D H Cohn

2

1 reference

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9 October 2019

G A Wallis

3

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9 October 2019

M C Willing

4

1 reference

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9 October 2019

B J Starman

5

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9 October 2019

X M Zhang

6

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9 October 2019

publication date

1 May 1991

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9 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2037280%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

volume

87

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9 October 2019

issue

1

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9 October 2019

page(s)

33-40

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https://scigraph.springernature.com/pub.10.1007/bf01213088

9 October 2019

exact match

0 references

cites work

Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA

1 reference

12 December 2020

Homozygous osteogenesis imperfecta unlinked to collagen I genes

1 reference

12 December 2020

DNA Glycosylases, Endonucleases for Apurinic/Apyrimidinic Sites, and Base Excision-Repair

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

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

1 reference

12 December 2020

Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)

1 reference

12 December 2020

Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.

1 reference

12 December 2020

Enzymatic synthesis of deoxyribonucleic acid. VIII. Frequencies of nearest neighbor base sequences in deoxyribonucleic acid

1 reference

12 December 2020

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

12 December 2020

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

12 December 2020

Synthetic oligonucleotide probes deduced from amino acid sequence data. Theoretical and practical considerations

1 reference

12 December 2020

Osteogenesis imperfecta type III: an ancient mutation in Africa?

1 reference

12 December 2020

Genetic heterogeneity in osteogenesis imperfecta

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

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

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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

Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretio

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Studies on the lysyl hydroxylase reaction. II. Inhibition kinetics and the reaction mechanism

1 reference

12 December 2020

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

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups

1 reference

12 December 2020

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome

1 reference

12 December 2020

The CpG dinucleotide and human genetic disease

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

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

12 December 2020

Identifiers

DOI

10.1007/BF01213088

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2037280%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

1 reference