|1.||Martínez, J Alfredo: 1 article (01/2015)|
|2.||Gómez-Úriz, Ana M: 1 article (01/2015)|
|3.||Goyenechea, Estíbaliz: 1 article (01/2015)|
|4.||Mansego, María L: 1 article (01/2015)|
|5.||Blázquez, Vanessa: 1 article (01/2015)|
|6.||González-Muniesa, Pedro: 1 article (01/2015)|
|7.||Abete, Itziar: 1 article (01/2015)|
|8.||López De Munain, Adolfo: 1 article (01/2015)|
|9.||Campión, Javier: 1 article (01/2015)|
|10.||De Arce, Ana: 1 article (01/2015)|
|1.||Hearing Loss (Hearing Impairment)
10/01/2006 - "In temporal overlap to hearing impairment, fluorescence immunohistochemical studies revealed that the potassium channel KCNQ1 and its beta-subunit KCNE1 were almost completely lost in the luminal part of marginal cells in the stria vascularis, affecting first higher and later also lower frequency processing cochlear turns. "
|2.||Long QT Syndrome
05/01/2008 - "A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome."
06/01/2006 - "[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]."
02/01/2003 - "Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome."
02/01/2001 - "A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics."
03/01/2012 - "Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner."
|3.||Deafness (Deaf Mutism)
02/01/2013 - "Other pathologies similar to those arising from known deafness gene mutations include downregulation of KCNQ1 protein expression in the stria vascularis, as well as hypoplastic and dysmorphic melanocytes. "
10/01/2006 - "Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis."
05/30/2014 - "Among the DRM constituents were several proteins involved in human forms of deafness including those involved in ion homeostasis, such as the potassium channel KCNQ1, the co-transporter SLC12A2, and gap junction proteins GJA1 and GJB6. "
01/01/2015 - "The objective of this research was to investigate, in obese patients suffering a previous stroke, the effects of a nutritional program on anthropometric and biochemical variables, and on the methylation patterns of two stroke-related genes (KCNQ1: potassium channel, voltage gated KQT-like subfamily Q, member 1; and WT1: Wilms tumor 1). "
|5.||Vertigo (Positional Vertigo)
|2.||3' Untranslated Regions (3' UTR)
|4.||Proteins (Proteins, Gene)