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Statements

Subject Item
n2:RIV%2F00216208%3A11150%2F13%3A10173981%21RIV14-MSM-11150___
rdf:type
skos:Concept n11:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1136/jmedgenet-2013-101570
dcterms:description
Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT 1. Several mutations, including R274W in particular, are recurrent, but the underlying mechanism is unclear. Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT 1. Several mutations, including R274W in particular, are recurrent, but the underlying mechanism is unclear.
dcterms:title
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
skos:prefLabel
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
skos:notation
RIV/00216208:11150/13:10173981!RIV14-MSM-11150___
n11:predkladatel
n12:orjk%3A11150
n3:aktivita
n20:I n20:N
n3:aktivity
I, N
n3:cisloPeriodika
9
n3:dodaniDat
n18:2014
n3:domaciTvurceVysledku
n14:8234310 n14:9351809
n3:druhVysledku
n5:J
n3:duvernostUdaju
n15:S
n3:entitaPredkladatele
n4:predkladatel
n3:idSjednocenehoVysledku
91513
n3:idVysledku
RIV/00216208:11150/13:10173981
n3:jazykVysledku
n13:eng
n3:klicovaSlova
STAT1; candidasis; mucocutaneous
n3:klicoveSlovo
n9:mucocutaneous n9:candidasis n9:STAT1
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[1703C9F04ADA]
n3:nazevZdroje
Journal of Medical Genetics
n3:obor
n17:FG
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
20
n3:rokUplatneniVysledku
n18:2013
n3:svazekPeriodika
50
n3:tvurceVysledku
Soltész, Beáta Šedivá, Anna Rozsíval, Pavel Abhyankar, Avinash Taskó, Szilvia Mehés, Leonóra Cypowyj, Sophie Litzman, Jiří Shabashova, Nadejda Neumann, David Tulassay, Zsolt Chernyshova, Liudmyla Tóth, Beáta Bondarenko, Anastasia Okada, Satoshi Csorba, Gabriella Maródi, László Puel, Anne Sarkadi, Adrien Katalin Casanova, Jean-Laurent
n3:wos
000323450200001
s:issn
0022-2593
s:numberOfPages
12
n19:doi
10.1136/jmedgenet-2013-101570
n7:organizacniJednotka
11150