(Q34241036)

English

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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scholarly article

1 reference

Europe PubMed Central

31 July 2017

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. (English)

1 reference

Europe PubMed Central

31 July 2017

osteogenesis imperfecta

0 references

author name string

M C Willing

1

1 reference

Europe PubMed Central

31 July 2017

D H Cohn

2

1 reference

Europe PubMed Central

31 July 2017

P H Byers

3

1 reference

Europe PubMed Central

31 July 2017

language of work or name

0 references

publication date

1 January 1990

1 reference

Europe PubMed Central

31 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

31 July 2017

85

1 reference

Europe PubMed Central

31 July 2017

282-290

1 reference

Europe PubMed Central

31 July 2017

1

1 reference

Europe PubMed Central

31 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

A system for shotgun DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Cloning and characterization of five overlapping cDNAs specific for the human proα 1(I) collagen chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

A short amino acid sequence able to specify nuclear location

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Haemoglobin Constant Spring--a chain termination mutant?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Human alpha-chain globin messenger: prediction of a nucleotide sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Nucleotide Sequence of the Gene Coding for the Bacteriophage MS2 Coat Protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Expression of wild-type and mutant forms of influenza hemagglutinin: the role of folding in intracellular transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Peptide analysis of collagen produced from cDNA by transcription and translation in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Assembly of influenza hemagglutinin trimers and its role in intracellular transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

6 July 2018

Messenger RNA structure: compatibility of hairpin loops with protein sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296416

28 October 2018

Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oligomerization is essential for transport of vesicular stomatitis viral glycoprotein to the cell surface

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Degradation from the endoplasmic reticulum: disposing of newly synthesized proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of a mixture of proteinase-free collagenases for the specific assay of radioactive collagen in the presence of other proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered relation of two collagen types in osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial nucleotide sequence of 16S ribosomal RNA from E. coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Post-Translational Fate of Variant MOPC 315 lamba Chains in Xenopus Oocytes and Mouse Myeloma Cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysosomal function in the degradation of defective collagen in cultured lung fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA and chromatin structure of the human alpha 1 (I) collagen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis, processing, and secretion of M and Z variant human alpha 1-antitrypsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of beta-thalassemia genes in China and Southeast Asia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2295701

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114424

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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