Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

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http://www.wikidata.org/entity/Q34444679
Advancing epilepsy genetics in the genomic eraPur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity.Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alphaDe novo mutations in PURA are associated with hypotonia and developmental delayMemory deficits, gait ataxia and neuronal loss in the hippocampus and cerebellum in mice that are heterozygous for Pur-alpha.Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development.PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions.A recurrent de novo missense mutation in UBTF causes developmental neuroregression.PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing."Yeah that Made a Big Difference!": The Importance of the Relationship between Health Professionals and Fathers Who Have a Child with Down Syndrome.Patient with a novel purine-rich element binding protein A mutation.Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.Expanding the neurodevelopmental phenotype of PURA syndrome.
P2860

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

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http://www.wikidata.org/entity/Q34444679
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2014 nî lūn-bûn
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2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年學術文章
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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Whole exome sequencing in fami ...... delay and learning disability.
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10.1136/JMEDGENET-2014-102798
P407
P433
P478
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