Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality
about
Modify or die?--RNA modification defects in metazoansFamilial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP DownregulationA neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous systemIKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration.Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progressionDepletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.IKAP deficiency in an FD mouse model and in oligodendrocyte precursor cells results in downregulation of genes involved in oligodendrocyte differentiation and myelin formation.Dimerization of elongator protein 1 is essential for Elongator complex assemblyPhosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia.IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial DysautonomiaFamilial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons.Familial Dysautonomia: Mechanisms and ModelsAnimal and cellular models of familial dysautonomia.MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.
P2860
Q28087742-B138EC8A-B942-432B-94AB-DA405A179919Q28550043-B729591D-30CF-4CD2-AA75-B3BD6192785DQ30580391-E08D6656-DC33-4E0C-8AF9-5012C728FA5AQ33746273-95442E48-999A-47AD-A107-01CAED339F2CQ34182211-D0B82EED-FF1A-4A96-8A68-C8BD0BD87767Q34743783-21ACC257-6C82-4A22-AC12-C2E34C9B84DCQ35078009-861DD080-7D32-446A-9701-ECBA276A2806Q35156173-AB409BC9-0C9A-411D-8ECD-8B5D5A947A45Q36008340-E3129F4E-CBBC-4069-9BBC-63D18FE77976Q36229416-8CFA0702-926B-4A75-9EBA-2E3F239B253CQ36375822-1606354E-8049-458E-9B6C-D1874ECE162AQ36608860-CF5EB075-BF08-414F-B520-033745C7D808Q36753688-78C8B433-976D-4C5E-9486-3F9802A1E460Q37285163-FFBBA748-38A2-42CE-8682-EF131AC6C13CQ37319616-94C11866-61FC-4977-B2F2-952094852EDAQ37450512-A0C337AE-5918-4BCE-B38D-455B5E622F24Q39408282-A9496F76-160F-4F72-AFCE-86C48E65FCC6Q40994304-40786383-036C-4852-9C0D-0D3ADEC9C9EAQ47113451-D5A129C7-2151-42C2-B1D9-11679C2A6F88
P2860
Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality
description
2011 nî lūn-bûn
@nan
2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@ast
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@en
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@nl
type
label
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@ast
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@en
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@nl
prefLabel
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@ast
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@en
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@nl
P2093
P2860
P1433
P1476
Deletion of exon 20 of the Fam ...... and early embryonic lethality
@en
P2093
Ioannis Dragatsis
Junming Yue
Paula Dietrich
P2860
P304
P356
10.1371/JOURNAL.PONE.0027015
P407
P577
2011-10-28T00:00:00Z