(Q34263964)

English

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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scholarly article

1 reference

Europe PubMed Central

1 August 2017

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 (English)

1 reference

Europe PubMed Central

1 August 2017

author name string

C L Phillips

1

1 reference

Europe PubMed Central

1 August 2017

A W Shrago-Howe

2

1 reference

Europe PubMed Central

1 August 2017

S R Pinnell

3

1 reference

Europe PubMed Central

1 August 2017

R J Wenstrup

4

1 reference

Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

1 November 1990

1 reference

Europe PubMed Central

1 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

1 August 2017

86

1 reference

Europe PubMed Central

1 August 2017

1723-1728

1 reference

Europe PubMed Central

1 August 2017

5

1 reference

Europe PubMed Central

1 August 2017

Marfan syndrome: abnormal alpha 2 chain in type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 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=296925

6 July 2018

A simple and very efficient method for generating cDNA libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Cross-linking in collagen and elastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Letter: Collagen of Marfan syndrome is abnormally soluble.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Purification of Biologically Active Globin Messenger RNA by Chromatography on Oligothymidylic acid-Cellulose

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a 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=296925

6 July 2018

Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 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=296925

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=296925

6 July 2018

Marfan Syndrome: Exclusion of genetic linkage to three major collagen genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Sequence specificity of human skin fibroblast collagenase. Evidence for the role of collagen structure in determining the collagenase cleavage site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

The pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

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=296925

6 July 2018

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 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=296925

6 July 2018

Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Osteoporosis and familial idiopathic scoliosis: association with an abnormal alpha 2(I) collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Nucleotide sequence of the full length cDNA encoding for human type II procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

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=296925

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=296925

6 July 2018

Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

Influence of single amino acid substitutions on electrophoretic mobility of sodium dodecyl sulfate-protein complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

A single amino acid substitution in a histidine-transport protein drastically alters its mobility in sodium dodecyl sulfate-polyacrylamide gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

6 July 2018

A Heritable Disorder of Connective Tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

28 October 2018

Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296925

9 December 2018

The marfan's syndrome. In vitro study of collagen metabolism in tissue specimens of the aorta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1978725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Marfan Syndrome: A Deficiency in Chemically Stable Collagen Cross-Links

1 reference

https://pubmed.ncbi.nlm.nih.gov/1978725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

17 A rapid alkaline extraction method for the isolation of plasmid DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1978725

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/1978725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1978725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII

1 reference

https://pubmed.ncbi.nlm.nih.gov/1978725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1978725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114897

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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