About: A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome

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description	article (en) ലേഖനം (ml) հոդված (hy) artículu científicu (ast) wetenschappelijk artikel (nl) article scientifique publié en 2012 (fr) наукова стаття, опублікована в лютому 2013 (uk) im Februar 2013 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q55670207-37AEB1BD-7FCB-487D-8A99-D1FDFDC28257
publication date	2012-08-30 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q55670207-56F05105-026D-4412-B1F2-0E97B165C5B6
language of work or name	English
exact match	wds:Q55670207-665EDA38-92E2-45C5-834D-FAE73702BD6D
exact match	https://scigraph.springernature.com/pub.10.1038/jid.2012.289
cites work	wds:Q55670207-1A73D48A-8725-49C2-B306-AB0C811BE235 wds:Q55670207-1EA5FD03-B338-45AA-B335-5CC94F3EB55B wds:Q55670207-26F699F8-2F41-4A0F-9C18-5DC3017B4BC1 wds:Q55670207-302953C4-352D-4950-B972-F4CEED684BEA wds:Q55670207-75A4673F-4F53-4956-8982-DF2B78CCBA87 wds:Q55670207-7D9A82AB-B774-4DD1-8339-4FCA604D84B6 wds:Q55670207-82A39828-FCA8-4E4A-8828-6A9E96057204 wds:Q55670207-9892A929-11F0-49AD-9330-95EE93317195 wds:Q55670207-A61ACEB7-771A-43B3-AF1A-2A0411978279 wds:Q55670207-B6C56DE8-7281-478F-907F-8D0AD162DB93 wds:Q55670207-C696C942-6C6E-4CF9-88A8-3C1E767B932E wds:Q55670207-D76D0F00-7A98-4F80-91B8-F577A4D0BB37 wds:Q55670207-F736704C-AE2C-40D9-815C-7A5C196F210C wds:Q55670207-FD90A276-FF86-42B1-82A5-6CA11C8C9372
cites work	Cleavage of sterol regulatory element-binding proteins (SREBPs) at site-1 requires interaction with SREBP cleavage-activating protein. Evidence from in vivo competition studies ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins Olmsted syndrome in twins Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome Olmsted syndrome: report of two new cases and literature review Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family. A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family MBTPS2 mutation causes BRESEK/BRESHECK syndrome Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid
author name string	wds:Q55670207-9357A79F-60C6-47C5-8351-B9BB77469B32 wds:Q55670207-99F3F486-618A-4AF4-887B-F9F8AE8BC21B wds:Q55670207-A7002339-DCA6-4C55-A9BB-A598C8E60698 wds:Q55670207-DDAD9EF8-40DE-4C16-9CF3-755EB2C88CAB
author name string	Alireza Haghighi Claire A Scott Reza Yaghoobi Nasrollah Saleh-Gohari
rdfs:label	A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome (en) A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome (nl)
skos:prefLabel	A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome (en) A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome (nl)
name	A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome (en) A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome (nl)
author	wds:Q55670207-70E6E3F2-6EF0-4F8E-B636-28C0F9AFFEDE wds:Q55670207-B764E3A3-B001-4517-B771-ACF4C6C27DD7 wds:Q55670207-EDEB129B-DEA3-470C-9A59-698716B2BB31
author	Vincent Plagnol David P. Kelsell Daniel S Poon
title	wds:Q55670207-6D14EFE0-6CC6-40CA-AF69-A43A6FD74031
title	A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome (en)
page(s)	wds:Q55670207-571A22D4-2626-4427-B10E-9A55DFF717B2
page(s)	571-573
instance of	wds:Q55670207-EB4B863F-C46C-4B2C-9752-CC62CDE5CD92
instance of	scholarly article
main subject	wds:Q55670207-42E7949B-BC9A-473B-B2AB-F2F296A601F4
main subject	Olmsted syndrome
PubMed ID	wds:Q55670207-78320014-2099-4161-96C5-D1D39EC282AC
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22931912
PubMed ID	22931912
published in	wds:Q55670207-D3742B91-4B96-422B-BDC6-D3671EF3A87B
published in	Journal of Investigative Dermatology
issue	wds:Q55670207-7E0EE181-0048-43F0-973F-1511DB71009D
volume	wds:Q55670207-CC2FF461-4D5A-4C5B-A0A9-D4D70F52E499
issue	2
volume	133
DOI	wds:Q55670207-6FA8CAA8-E491-4430-99F3-95D730699631
DOI	http://dx.doi.org/10.1038/JID.2012.289
DOI	10.1038/JID.2012.289
Dimensions Publication ID	wds:Q55670207-798DC4AC-9463-4DD9-BCC8-2CD1D8CCAD0A
Dimensions Publication ID	1022336147
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55670207
is cites work of	Discovery in genetic skin disease: the impact of high throughput genetic technologies Olmsted syndrome caused by a homozygous recessive mutation in TRPV3 Olmsted syndrome: clinical, molecular and therapeutic aspects Olmsted syndrome: exploration of the immunological phenotype MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes Golgi post-translational modifications and associated diseases Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin.

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