Familial dysautonomia is caused by mutations of the IKAP gene. - Wikidata - awgldk - TriplyDB

Familial dysautonomia is caused by mutations of the IKAP gene.

Familial dysautonomia is caused by mutations of the IKAP gene.

http://www.wikidata.org/entity/Q24536229

about

Hereditary sensory and autonomic neuropathies: types II, III, and IV Progress in genetic studies of pain and analgesia Purification and characterization of the human elongator complex Human Elongator facilitates RNA polymerase II transcription through chromatin DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates Elongator is a histone H3 and H4 acetyltransferase important for normal histone acetylation levels in vivo.Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.The pathobiology of splicing Viral infection and human disease--insights from minimotifs Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).Defects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutants The Elongator subcomplex Elp456 is a hexameric RecA-like ATPase Crystal Structure of Elongator Subcomplex Elp4-6 A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex.An early step in wobble uridine tRNA modification requires the Elongator complex.The Many Faces of Elongator in Neurodevelopment and Disease Modify or die?--RNA modification defects in metazoans Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1 Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotes Integrative assessment of chlorine-induced acute lung injury in mice Enriched population of PNS neurons derived from human embryonic stem cells as a platform for studying peripheral neuropathies Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene Genome-wide analysis of gene expression in primate taste buds reveals links to diverse processes Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway tRNA biology charges to the front Neural Stem Cells to Cerebral Cortex: Emerging Mechanisms Regulating Progenitor Behavior and Productivity.Elongator function in tRNA wobble uridine modification is conserved between yeast and plants.Staying awake--a genetic region that hinders α2 adrenergic receptor agonist-induced sleep.A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.Screening of substrate peptide sequences for tissue-type transglutaminase (TGase 2) using T7 phage cDNA library.The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells Involvement of BcElp4 in vegetative development, various environmental stress response and virulence of Botrytis cinerea Fine mapping of the 9q31 Hirschsprung's disease locus.Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia.Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality

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Familial dysautonomia is caused by mutations of the IKAP gene.

http://www.wikidata.org/entity/Q24536229

description

2001 nî lūn-bûn

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2001 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2001 թվականի հունվարին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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name

Familial dysautonomia is caused by mutations of the IKAP gene

@nl

Familial dysautonomia is caused by mutations of the IKAP gene.

@ast

Familial dysautonomia is caused by mutations of the IKAP gene.

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type

label

Familial dysautonomia is caused by mutations of the IKAP gene

@nl

Familial dysautonomia is caused by mutations of the IKAP gene.

@ast

Familial dysautonomia is caused by mutations of the IKAP gene.

@en

prefLabel

Familial dysautonomia is caused by mutations of the IKAP gene

@nl

Familial dysautonomia is caused by mutations of the IKAP gene.

@ast

Familial dysautonomia is caused by mutations of the IKAP gene.

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American Journal of Human Genetics

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Familial dysautonomia is caused by mutations of the IKAP gene.

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P2093

Anderson SL

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Coli R

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Daly IW

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Ekstein J

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Kichula EA

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Rork MJ

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Rubin BY

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Volpi SA

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P2860

IKAP is a scaffold protein of the IkappaB kinase complex

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature.

Structural gene for beta-nerve growth factor not defective in familial dysautonomia

Familial dysautonomia: diagnosis, pathogenesis and management.

Tumor necrosis factor and IFN induce a common set of proteins.

Characterization of IKI1 and IKI3 genes conferring pGKL killer sensitivity on Saccharomyces cerevisiae.

The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component.

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10.1086/318808

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