About: Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

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About: Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping Goto Sponge NotDistinct Permalink

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scientific article published on 01 September 1995

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 1995 (uk) article scientifique publié en 1995 (fr) im September 1995 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en setiembre de 1995 (ast) scientific article published on 01 September 1995 (en)
publication date	wds:Q57784058-AE866B19-D3EB-4D38-A2A6-E10FFC8DC475
publication date	1995-09-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57784058-14FFD23F-7A6A-4C14-A683-29F137F44314
language of work or name	English
exact match	wds:Q57784058-0E07A4DA-D75F-43B5-94E9-053BBF961F14
exact match	https://scigraph.springernature.com/pub.10.1111/1523-1747.ep12320704
author name string	wds:Q57784058-8CD708C0-7075-40CF-BE13-34D4B1DC7B2B wds:Q57784058-8FE97FAE-640E-4397-BC44-4647AE2BDFA8 wds:Q57784058-F6B02DBB-261D-4EBD-B836-8670294AE003
author name string	T N Helm W F Bergfeld M Kay
rdfs:label	Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping (en) Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping (nl)
skos:prefLabel	Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping (en) Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping (nl)
name	Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping (en) Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping (nl)
author	wds:Q57784058-34C02829-8780-4BBA-B2BA-6CA245CA1E76 wds:Q57784058-92014996-6667-49C5-A549-D21C6CED041B
author	Gerard Tromp Helena Kuivaniemi
title	wds:Q57784058-9B5835E6-F0F1-477E-B30F-4BC16C632CF8
title	Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping (en)
page(s)	wds:Q57784058-3EDAFAFF-E607-4F35-9A87-251D7609FA84
page(s)	352-356
instance of	wds:Q57784058-F164F45D-F377-410D-9BC8-884EC3CEA96C
instance of	scholarly article
main subject	wds:Q57784058-0057bdab-40f9-486d-813e-f69269c65cd4 wds:Q57784058-85ABCE25-1505-47EA-9359-38C4DF0E8BF0 wds:Q57784058-8B0274D5-C8F3-45D1-B478-8B5FBBBFAE4D wds:Q57784058-E29C4F46-A3DB-4AA1-871E-C31E96640880
main subject	Ehlers-Danlos syndrome dermatology cell biology molecular biology
PubMed ID	wds:Q57784058-F53D68A7-9D30-47E4-B87D-BC275DC35F55
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7665911
PubMed ID	7665911
published in	wds:Q57784058-985BC5DD-AFF2-4F57-8DC7-FFC7DD7BA75A
published in	Journal of Investigative Dermatology
issue	wds:Q57784058-B2885311-F44A-4B97-B07A-72FE92EDAE5E
volume	wds:Q57784058-144CD762-538B-463F-9B84-05CD90759646
issue	3
volume	105
DOI	wds:Q57784058-94DDCF3E-2ECA-4C6B-B940-1ADA6369583A
DOI	http://dx.doi.org/10.1111/1523-1747.EP12320704
DOI	10.1111/1523-1747.EP12320704
Dimensions Publication ID	wds:Q57784058-2CAEFA77-7C03-4956-A201-53D7F0CF9C2B
Dimensions Publication ID	1021229187
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57784058
is cites work of	Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination Ehlers-Danlos syndrome has varied molecular mechanisms The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development 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. Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa Hereditary skin diseases of anchoring fibrils GPR56 and the developing cerebral cortex: cells, matrix, and neuronal migration Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons Hydrolyzed eggshell membrane immobilized on phosphorylcholine polymer supplies extracellular matrix environment for human dermal fibroblasts. Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts
is cites work of	wds:Q24620559-182124BB-4281-4CCC-9A54-767F0EDF7C86 wds:Q28512264-0E7D17C2-2A61-4402-87C1-060384F3EB82 wds:Q34123887-4E22EEF6-2C42-4F21-9D76-BE6568AFB71D wds:Q28239757-65419B49-1680-459C-BE40-1D1D78958F7E wds:Q43104755-5E1520FA-7F46-4F83-9FC0-E20244CA47A8 wds:Q33668572-E22AF36C-EF4C-4284-85F5-4E8DA886900D wds:Q28588213-81020754-B39C-450D-8442-916CA4FBD52D wds:Q28507740-68C4ECE5-4ED6-4EF4-9A31-50A413DBA9C6 wds:Q33657788-92D3ADFF-828B-4151-A197-60EE78A4417E wds:Q24320166-5D824725-C447-4648-9A9F-D2010FDFCBAA wds:Q80849075-20A570BF-F881-4F63-A758-D8A91F66468D wds:Q34301363-AA85C419-D443-4C71-8F8D-45993E72B0F9 wds:Q33906757-FCFCCBD5-81DE-44F3-903D-936C3F913CE6 wds:Q33678835-0047223D-AC75-46E3-8781-10F42B0DCB16 wds:Q35257619-A9F8C908-9575-455C-ABD3-391063183DB2 wds:Q79433876-9AD3D1A9-0D82-44B0-8335-C1A29C80529E wds:Q22009971-6469B31E-9D6F-490D-9A38-F686C9BB6D74

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