(Q34113108)

English

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 July 2017

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

haploinsufficiency

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Ehlers-Danlos syndrome

0 references

1 reference

based on heuristic

inferred from title

8

object named as

P H Byers

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

U Schwarze

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

W I Schievink

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

E Petty

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

M R Jaff

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

D Babovic-Vuksanovic

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

K J Cherry

6

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

M Pepin

7

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Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

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publication date

27 September 2001

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

31 July 2017

69

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Europe PubMed Central

PubMed publication ID

31 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

989-1001

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

mRNA quality control: Marking the message for life or death.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Quality control of mRNA function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations 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=1274375

5 July 2018

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=1274375

5 July 2018

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Collagen fibril formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (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=1274375

5 July 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=1274375

5 July 2018

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Clinical presentations of 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=1274375

5 July 2018

Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 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=1274375

5 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=1274375

5 July 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 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=1274375

5 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=1274375

5 July 2018

Inheritance of Ehlers-Danlos type IV syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 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=1274375

5 July 2018

Interaction Between Collagen Type I and Type III in Conditioning Bundles Organization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

5 July 2018

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274375

28 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11577371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

1 reference

https://pubmed.ncbi.nlm.nih.gov/11577371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copolymerization of pNcollagen III and collagen I. pNcollagen III decreases the rate of incorporation of collagen I into fibrils, the amount of collagen I incorporated, and the diameter of the fibrils formed

1 reference

https://pubmed.ncbi.nlm.nih.gov/11577371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/11577371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Antisera and cDNA probes to human and certain animal model bone matrix noncollagenous proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/11577371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/11577371

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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