A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
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Function Over Form: Modeling Groups of Inherited Neurological Conditions in ZebrafishA homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognitionA Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human DysmorphismA truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.Understanding rare disease pathogenesis: a grand challenge for model organisms.The chromatin regulator Brpf1 regulates embryo development and cell proliferationThalamic WNT3 Secretion Spatiotemporally Regulates the Neocortical Ribosome Signature and mRNA Translation to Specify Neocortical Cell Subtypes.Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated MicrocephalyRequirement of Neuronal Ribosome Synthesis for Growth and Maintenance of the Dendritic TreeA t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment.Etiology and pathogenesis of the cohesinopathies.The frontier of RNA metamorphosis and ribosome signature in neocortical development.Perturbed proteostasis in autism spectrum disorders.EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.Location is everything: an educational primer for use with "genetic analysis of the ribosome biogenesis factor Ltv1 of Saccharomyces cerevisiae".A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.How Ribosomes Translate Cancer.RNA on the brain: emerging layers of post-transcriptional regulation in cerebral cortex development.mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease.[Connecting isolated congenital asplenia to the ribosome].Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.Biological Function of Ribosomal Protein L10 on Cell Behavior in Human Epithelial Ovarian Cancer.The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders.
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P2860
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@ast
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@en
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@nl
type
label
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@ast
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@en
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@nl
prefLabel
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@ast
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@en
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@nl
P2093
P2860
P50
P921
P1433
P1476
A novel ribosomopathy caused b ...... linked microcephaly in humans.
@en
P2093
Alissa L Wall
Amalia Kondyles
Christina Botti
Christopher V Nicchitta
David W Reid
Jason R Willer
P2860
P304
P356
10.1534/GENETICS.114.168211
P407
P577
2014-10-01T00:00:00Z