Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
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Genetics of autistic disorders: review and clinical implicationsXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingContribution of SHANK3 mutations to autism spectrum disorderThe role of neuronal complexes in human X-linked brain diseasesEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseAn investigation of ribosomal protein L10 gene in autism spectrum disorders.Selected rapporteur summaries from the XX World Congress of Psychiatric Genetics, Hamburg, Germany, October 14-18, 2012.Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implicationsRibosomal proteins: functions beyond the ribosomeFear conditioning leads to alteration in specific genes expression in cortical and thalamic neurons that project to the lateral amygdala.Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.Analysis of X chromosome inactivation in autism spectrum disorders.Cellular reprogramming: a novel tool for investigating autism spectrum disorders.Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.Protein signatures of oxidative stress response in a patient specific cell line model for autism.Bypass of the pre-60S ribosomal quality control as a pathway to oncogenesis.Perturbed proteostasis in autism spectrum disorders.Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach.Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome.EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.Pentapeptide sharing between Corynebacterium diphtheria toxin and the human neural protein network.mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease.Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population.Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.Biological Function of Ribosomal Protein L10 on Cell Behavior in Human Epithelial Ovarian Cancer.RPL10mutation segregating in a family with X-linked syndromic Intellectual DisabilityMutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorderGenome-wide mRNA expression analysis of peripheral blood from patients with obsessive-compulsive disorder
P2860
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P2860
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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name
Mutations in the ribosomal pro ...... disease mechanism for autism.
@en
Mutations in the ribosomal pro ...... disease mechanism for autism.
@nl
type
label
Mutations in the ribosomal pro ...... disease mechanism for autism.
@en
Mutations in the ribosomal pro ...... disease mechanism for autism.
@nl
prefLabel
Mutations in the ribosomal pro ...... disease mechanism for autism.
@en
Mutations in the ribosomal pro ...... disease mechanism for autism.
@nl
P2093
P2860
P356
P1433
P1476
Mutations in the ribosomal pro ...... disease mechanism for autism.
@en
P2093
Breitenbach-Koller L
Chiocchetti A
Kolb-Kokocinski A
Schmötzer G
Schuster C
P2860
P2888
P304
P356
10.1038/SJ.MP.4001883
P407
P577
2006-08-29T00:00:00Z