About: A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report

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scientific article published on 19 May 2019

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rdf:type	Item
description	wetenschappelijk artikel (nl) artículu científicu espublizáu en mayu de 2019 (ast) im Mai 2019 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 19 May 2019 (en) наукова стаття, опублікована 19 травня 2019 (uk)
publication date	wds:Q92797165-E388A05D-0151-4A86-ABC4-D5131EF82DE1
publication date	2019-05-19 00:00:00Z (xsd:dateTime)
cites work	wds:Q92797165-03C40DEE-82B8-46CC-89DB-6A5A203EBD12 wds:Q92797165-0FEEEC04-4511-48AF-9D0D-6110500B7651 wds:Q92797165-17BFDF59-5195-40AA-8019-6EFE2421551C wds:Q92797165-2F6EF05C-A3D7-42B3-93BE-C4647FDB44DE wds:Q92797165-301D39B6-13C7-4B9B-9979-430352962E50 wds:Q92797165-3D080CEF-5780-4159-BF1C-819587F9A3B9 wds:Q92797165-4FF4F2CC-6A2C-45EE-B680-09FAFE9A96C3 wds:Q92797165-54BAEF0D-B094-4795-9C56-29DF88878F19 wds:Q92797165-584BA7C7-CFFD-4D00-9853-BFE19260D00D wds:Q92797165-58D0DE8C-4C9C-45DD-9A03-BE81DA2F4522 wds:Q92797165-59C57E57-E17E-4755-B077-9D7069B2C852 wds:Q92797165-5C43C6B1-F6A4-4A97-8E51-9A8F44078D13 wds:Q92797165-5CD07B6D-1A05-4D7F-B568-0E8E4BED25C5 wds:Q92797165-8C09F274-55CC-429A-8C7F-57B21B79CC5D wds:Q92797165-96191FEB-F72E-4638-BDF9-16015C3A8E44 wds:Q92797165-9D5266D9-AD2C-4538-913F-CB4EF74E8689 wds:Q92797165-A6E471D7-AF5D-4F89-8AC1-0A35594C46A1 wds:Q92797165-B04AA137-CA39-4FB2-AB69-5CF5BB3DD0EB wds:Q92797165-B7D04000-4346-440C-BC1D-7EAE59CD2900 wds:Q92797165-C738B5B9-3181-48C8-ADA6-729B1B8A7E01 wds:Q92797165-C830DCD1-F81B-42C6-9B28-433984071300 wds:Q92797165-DE08C885-A26A-468B-80E5-1F5D942C7702 wds:Q92797165-E002F9D7-63E6-4A7E-8D34-79DDE01C8057 wds:Q92797165-E60470B9-0B45-44DB-9C55-AF6305D31BA5
cites work	Lipoid proteinosis in an inbred Namaqualand community Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes. Urbach-Wiethe disease: experience at a tertiary care hospital in Abbottabad, Pakistan Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin. Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro D-penicillamine treatment for lipoid proteinosis A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily Acitretin treatment for lipoid proteinosis Treatment of lipoid proteinosis with acitretin: a case report Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide Treatment of lipoid proteinosis with etretinate Extracellular matrix protein 1 regulates cell proliferation and trastuzumab resistance through activation of epidermal growth factor signaling Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing. A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis A Case Report: Hybrid Treatment Approach to Lipoid Proteinosis of the Larynx Lipoid Proteinosis: Skin Resurfacing with Combination of Fractional CO2 and Non-ablative Radio Frequency: A Rare Case Report
author name string	wds:Q92797165-022645A5-7800-41E9-B787-1051E3CFFAE2 wds:Q92797165-0DB3E915-C9A7-4E38-9366-9954AB48EC48
author name string	Etienne Saint-Cyr Proulx Fatemeh Jafarian
rdfs:label	A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report (en) A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report (nl)
skos:prefLabel	A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report (en) A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report (nl)
name	A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report (en) A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report (nl)
author	wds:Q92797165-2F0EA0C6-B440-44F7-B82A-0F0E1EDD0C8A
author	Feras M Ghazawi
title	wds:Q92797165-03207F46-AC3A-4F1A-8F0F-C979AAE0182C
title	A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report (en)
page(s)	wds:Q92797165-C23E2951-CE53-483C-BBDA-0313D828223F
page(s)	2050313X19850359
instance of	wds:Q92797165-4f95b9cc-f58f-4f3c-84ce-7a28cc0c74a4 wds:Q92797165-681ED607-8156-4262-89D2-6A1230710742
instance of	scholarly article case report
main subject	wds:Q92797165-EB182096-3374-44FD-9AD7-2D918F84AA1E
main subject	lipoid proteinosis
PubMed ID	wds:Q92797165-48998E11-EE72-4EBC-BA70-DADECC47A63F
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/31205714
PubMed ID	31205714
published in	wds:Q92797165-44DE9836-991B-4D72-A05C-824813786A76
published in	SAGE open medical case reports
volume	wds:Q92797165-89833CB9-42A8-4EB0-9D0D-9C578C9320E6
volume	7
DOI	wds:Q92797165-10D78CAE-4DC4-4FC3-A0B4-E77A4D4647E5
DOI	http://dx.doi.org/10.1177/2050313X19850359
DOI	10.1177/2050313X19850359
PMCID	wds:Q92797165-3230FF20-F488-4A59-B8D0-A830E04C0FC3
PMCID	6537054
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q92797165

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