Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a (Q41771617)

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scientific article published on January 1, 1998

Language	Label	Description	Also known as
English	Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a	scientific article published on January 1, 1998

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a (English)

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

electrophoresis

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osteogenesis imperfecta

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author name string

Körkkö J

1

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Ala-Kokko L

2

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Europe PubMed Central

PMC publication ID

9 October 2017

De Paepe A

3

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Nuytinck L

4

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Earley J

5

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Prockop DJ

6

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

language of work or name

0 references

publication date

1 January 1998

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Europe PubMed Central

PMC publication ID

9 October 2017

American Journal of Human Genetics

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Europe PubMed Central

PMC publication ID

9 October 2017

62

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Europe PubMed Central

PMC publication ID

9 October 2017

1

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

98-110

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

The human type I collagen mutation database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Sequence specificity in CpG mutation hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

1 reference

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6 June 2018

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta

1 reference

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6 June 2018

Detection of mismatched bases in double stranded DNA by gel electrophoresis

1 reference

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6 June 2018

Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta

1 reference

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6 June 2018

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

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6 June 2018

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles 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=1376813

6 June 2018

Convenient single-step, one tube purification of PCR products for direct sequencing

1 reference

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6 June 2018

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta

1 reference

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

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6 June 2018

Analysis of the promoter region and the N-propeptide domain of the human pro alpha 2(I) collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 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=1376813

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Organization of the human pro-alpha 2(I) collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Mutations that alter the primary structure of type I collagen. The perils of a system for generating large structures by the principle of nucleated growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Structural and functional analysis of the first intron of the human alpha 2(I) collagen-encoding gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Highly conserved sequences in the 3'-untranslated region of the COL1A1 gene bind cell-specific nuclear proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to defi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376813

6 June 2018

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele 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=1376813

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A rapid alkaline extraction procedure for screening recombinant plasmid DNA

1 reference

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6 June 2018

Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene

1 reference

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Direct DNA sequencing of PCR-amplified vector inserts following enzymatic degradation of primer and dNTPs

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3 November 2018

The structure of the chicken alpha 2 collagen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9443882

12 December 2020

based on heuristic

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Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9443882

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9443882

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Short direct repeats flanking deletions, and duplicating insertions in p53 gene in human cancers

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inferred from PubMed ID database lookup

Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

1 reference

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based on heuristic

inferred from PubMed ID database lookup

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

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Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

1 reference

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1 reference

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PCR genotyping of oim mutant mice

1 reference

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Europe PubMed Central

PMC publication ID

9 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

9 October 2017

ResearchGate publication ID

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