Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen (Q57197855)

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9 October 2019

title

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

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9 October 2019

main subject

osteogenesis imperfecta

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author

Peter H. Byers

7

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9 October 2019

author name string

C J Pruchno

1

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9 October 2019

D H Cohn

2

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9 October 2019

G A Wallis

3

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9 October 2019

M C Willing

4

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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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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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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

9 October 2019

cites work

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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

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12 December 2020

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

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12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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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

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12 December 2020

Osteogenesis imperfecta is linked to both type I collagen structural genes

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12 December 2020

Molecular basis of base substitution hotspots in Escherichia coli

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12 December 2020

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

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12 December 2020

Osteogenesis imperfecta type III: an ancient mutation in Africa?

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12 December 2020

Genetic heterogeneity in osteogenesis imperfecta

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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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

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12 December 2020

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

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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

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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

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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.

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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.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

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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

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12 December 2020

The CpG dinucleotide and human genetic disease

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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

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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

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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

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