A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
about
The diversification of the LIM superclass at the base of the metazoa increased subcellular complexity and promoted multicellular specializationIdentification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defectsPRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disordersSeizures induced by pentylenetetrazole in the adult zebrafish: a detailed behavioral characterizationDrosophila sodium channel mutations: Contributions to seizure-susceptibilityEarly-onset Lafora body diseaseNuclear localization of Prickle2 is required to establish cell polarity during early mouse embryogenesisPrickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesisSeizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseMutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesisFunctional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.Transcriptional analysis of apoptotic cerebellar granule neurons following rescue by gastric inhibitory polypeptideProteomic profiling of human intraschisis cavity fluidTwo frizzled planar cell polarity signals in the Drosophila wing are differentially organized by the Fat/Dachsous pathway.prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies.Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons.A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.Pharmacogenetic effects of 'candidate gene complexes' on stroke in the GenHAT study.Mutations in prickle orthologs cause seizures in flies, mice, and humans.Sex, epilepsy, and epigenetics.REST and CoREST are transcriptional and epigenetic regulators of seminal neural fate decisions.Zebrafish Prickle1b mediates facial branchiomotor neuron migration via a farnesylation-dependent nuclear activityEpileptogenesis after prolonged febrile seizures: mechanisms, biomarkers and therapeutic opportunities.A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.Malin regulates Wnt signaling pathway through degradation of dishevelled2REST/NRSF Knockdown Alters Survival, Lineage Differentiation and Signaling in Human Embryonic Stem Cells.Disruption of Rest Leads to the Early Onset of Cataracts with the Aberrant Terminal Differentiation of Lens Fiber CellsRegulation of neural gene transcription by optogenetic inhibition of the RE1-silencing transcription factorAssociation of folate metabolism genes MTHFR and MTRR with multiple complex congenital malformation risk in Chinese population of Shanxi.NRSF and BDNF polymorphisms as biomarkers of cognitive dysfunction in adults with newly diagnosed epilepsyIdentification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European AncestryMultiplex families with epilepsy: Success of clinical and molecular genetic characterization.Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.Chromatin-modifying agents for epigenetic reprogramming and endogenous neural stem cell-mediated repair in stroke.
P2860
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P2860
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@ast
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@en
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@en-gb
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@nl
type
label
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@ast
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@en
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@en-gb
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@nl
prefLabel
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@ast
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@en
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@en-gb
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@nl
P2093
P2860
P50
P3181
P1476
A homozygous mutation in human ...... lonus epilepsy-ataxia syndrome
@en
P2093
Aimee Buhr
Alexander G Bassuk
Andrew R Buller
Azhar S Daoud
Aziz Mazarib
Christina Gurnett
Dragana Antic
Eszter K Vladar
Hilary L Griesbach
Masahito Shimojo
P2860
P304
P3181
P356
10.1016/J.AJHG.2008.10.003
P407
P50
P577
2008-10-30T00:00:00Z