Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
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The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's diseaseFamily-wide characterization of the DENN domain Rab GDP-GTP exchange factorsRab39a interacts with phosphatidylinositol 3-kinase and negatively regulates autophagy induced by lipopolysaccharide stimulation in macrophagesIdentification and characterization of multiple novel Rab-myosin Va interactionsA developmental and genetic classification for malformations of cortical development: update 2012Rab and Arf proteins in genetic diseasesGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Rab GTPases, membrane trafficking and diseasesC9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and AutophagyX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesCystatin a, a potential common link for mutant myocilin causative glaucomaLoss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathMutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEpileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagyCNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disordersCharacterization of the deleted in autism 1 protein family: implications for studying cognitive disorders.A randomised controlled trial of bumetanide in the treatment of autism in childrenThe RAB39B p.G192R mutation causes X-linked dominant Parkinson's diseaseIdentifying and Analyzing Novel Epilepsy-Related Genes Using Random Walk with Restart Algorithm.Clinical impacts of genomic copy number gains at Xq28Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections.CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityThe genetic basis of non-syndromic intellectual disability: a reviewIntellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson diseaseMutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyIdentification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autismDeletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.A novel predicted calcium-regulated kinase family implicated in neurological disorders.The role of the small GTPase Rab31 in cancer.A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.Exome sequencing and the genetics of intellectual disability.The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.shRNA-Based Screen Identifies Endocytic Recycling Pathway Components That Act as Genetic Modifiers of Alpha-Synuclein Aggregation, Secretion and Toxicity.Rab GTPases implicated in inherited and acquired disorders.Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.Macrocephaly as a clinical indicator of genetic subtypes in autism.
P2860
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P2860
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@ast
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@en
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@en-gb
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@nl
type
label
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@ast
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@en
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@en-gb
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@nl
prefLabel
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@ast
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@en
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@en-gb
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@nl
P2093
P2860
P50
P921
P3181
P1476
Mutations in the small GTPase ...... sm, epilepsy, and macrocephaly
@en
P2093
Alessandra Sirri
Arjan P M de Brouwer
Barbara Oehl-Jaschkowitz
Charles E Schwartz
Cindy Skinner
Errico D'Elia
Francesca Cogliati
Lidia Larizza
Maila Giannandrea
Matteo Vecellio
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.01.011
P407
P50
P577
2010-02-12T00:00:00Z