(Q34731356)

English

Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms

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scholarly article

1 reference

Europe PubMed Central

4 August 2017

Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms (English)

1 reference

Europe PubMed Central

4 August 2017

author name string

G Tromp

1

1 reference

Europe PubMed Central

4 August 2017

Y Wu

2

1 reference

Europe PubMed Central

4 August 2017

D J Prockop

3

1 reference

Europe PubMed Central

4 August 2017

S L Madhatheri

4

1 reference

Europe PubMed Central

4 August 2017

C Kleinert

5

1 reference

Europe PubMed Central

4 August 2017

J J Earley

6

1 reference

Europe PubMed Central

4 August 2017

J Zhuang

7

1 reference

Europe PubMed Central

4 August 2017

O Norrgård

8

1 reference

Europe PubMed Central

4 August 2017

R C Darling

9

1 reference

Europe PubMed Central

4 August 2017

W M Abbott

10

1 reference

Europe PubMed Central

4 August 2017

language of work or name

0 references

publication date

1 June 1993

1 reference

Europe PubMed Central

4 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

4 August 2017

91

1 reference

Europe PubMed Central

4 August 2017

2539-2545

1 reference

Europe PubMed Central

4 August 2017

6

1 reference

Europe PubMed Central

4 August 2017

Molecular cloning and carboxyl-propeptide analysis of human type III procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Familial tendency for abdominal aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 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=443315

7 July 2018

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Abdominal aortic aneurysm: consequences of a positive family history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Are familial abdominal aortic aneurysms different?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Incidence and etiology of abdominal aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

G to A polymorphism in exon 31 of the COL3A1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 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=443315

7 July 2018

C to T polymorphism in exon 33 of the COL3A1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Ultrasound screening of first-degree relatives of patients with an abdominal aortic aneurysm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

On the inheritance of abdominal aortic aneurysm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

The defect in Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Abnormalities in the Biosynthesis of Type III Procollagen in Cultured Skin Fibroblasts from Two Patients with Multiple Aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 July 2018

Familial abdominal aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

7 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=443315

7 July 2018

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

28 July 2018

A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=443315

26 October 2018

Collagen in abdominal aortic aneurysm: typing, content, and degradation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrasonographic screening of the abdominal aorta among siblings of patients with abdominal aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal retractive force in pressurized dog and human arteries

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha 1-antitrypsin phenotypes in patients with abdominal aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased tissue inhibitor of metalloproteinases (TIMP) in abdominal aortic aneurysm tissue: a preliminary report

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multifactorial inheritance of abdominal aortic aneurysm

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagenase activity of the human aorta. A comparison of patients with and without abdominal aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blood elastolytic activity in patients with aortic aneurysm

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human genetics of the abdominal aortic aneurysm

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fifty families with abdominal aortic aneurysms in two or more first-order relatives

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial occurrence of abdominal aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/8514866

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI116490

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

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