Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen (Q35889436)

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29 October 2019

title

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen (English)

1 reference

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29 October 2019

main subject

osteogenesis imperfecta

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1 reference

M C Willing

1

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29 October 2019

S P Deschenes

2

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29 October 2019

D A Scott

3

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29 October 2019

P H Byers

4

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29 October 2019

R L Slayton

5

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29 October 2019

S H Pitts

6

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29 October 2019

H Arikat

7

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29 October 2019

E J Roberts

8

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29 October 2019

language of work or name

English

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publication date

1 October 1994

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American Journal of Human Genetics

29 October 2019

published in

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29 October 2019

volume

55

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29 October 2019

issue

4

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29 October 2019

page(s)

638-647

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Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta

29 October 2019

cites work

1 reference

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Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

11 July 2018

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Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen

11 July 2018

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Mutation in an intervening sequence splice junction in man

11 July 2018

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An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta

11 July 2018

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A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia

11 July 2018

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DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

11 July 2018

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Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta

11 July 2018

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GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

11 July 2018

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Identification of an altered splice site in Ashkenazi Tay-Sachs disease

11 July 2018

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Nonsense mutations in the human beta-globin gene affect mRNA metabolism

11 July 2018

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Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.

11 July 2018

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

11 July 2018

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Premature translation termination mediates triosephosphate isomerase mRNA degradation

11 July 2018

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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

11 July 2018

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Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

11 July 2018

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Direct sequencing from low-melt agarose with Sequenase.

11 July 2018

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An in vitro system for the editing of apolipoprotein B mRNA.

11 July 2018

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

11 July 2018

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Tissue-specific splicing mutation in acute intermittent porphyria.

11 July 2018

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Translation affects immunoglobulin mRNA stability

11 July 2018

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

11 July 2018

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

11 July 2018

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Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

11 July 2018

1 reference

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

11 July 2018

1 reference

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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.

11 July 2018

1 reference

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Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

11 July 2018

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Molecular basis of hereditary C3 deficiency

11 July 2018

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PvuII polymorphism at the COL1A2 locus

11 July 2018

1 reference

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A sequence polymorphism in the 3'-nontranslated region of the pro alpha 1 chain of type I procollagen

11 July 2018

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Osteogenesis imperfecta: translation of mutation to phenotype

11 July 2018

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An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen

11 July 2018

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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

11 July 2018

1 reference

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Characterization of a splicing mutation in group A xeroderma pigmentosum

11 July 2018

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Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis

11 July 2018

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Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy

11 July 2018

1 reference

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Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen

11 July 2018

1 reference

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Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain

11 July 2018

1 reference

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Genetic heterogeneity in osteogenesis imperfecta

11 July 2018

1 reference

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DNA sequencing with chain-terminating inhibitors

11 July 2018

1 reference

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Molecular heterogeneity in osteogenesis imperfecta type I.

11 July 2018

1 reference

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Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

24 September 2018

1 reference

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

14 November 2018

1 reference

12 December 2020

Completion of the last half of the structure of the human gene for the Pro alpha 1 (I) chain of type I procollagen (COL1A1)

1 reference

12 December 2020

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

1 reference

12 December 2020

Altered relation of two collagen types in osteogenesis imperfecta

1 reference

12 December 2020

Beta O-39 thalassemia gene: a premature termination codon causes beta-mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1 reference

12 December 2020

Detection of single base substitutions in total genomic DNA

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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

Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta

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12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7942841%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

PubMed publication ID

7942841

1 reference