CEDNIK syndrome results from loss-of-function mutations in SNAP29.

CEDNIK syndrome results from loss-of-function mutations in SNAP29.

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http://www.wikidata.org/entity/Q34149506
Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formationGenes and brain malformations associated with abnormal neuron positioningMultiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation in Drosophila.A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosisA mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function.New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutationHemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.Membrane Trafficking in Neuronal Development: Ins and Outs of Neural Connectivity.Recognition and diagnosis of neuro-ichthyotic syndromes.SVEP1 plays a crucial role in epidermal differentiation.Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.Conserved Oligomeric Golgi and Neuronal Vesicular Trafficking.Increased O-GlcNAcylation of SNAP29 drives arsenic-induced autophagic dysfunction.CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.
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CEDNIK syndrome results from loss-of-function mutations in SNAP29.

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http://www.wikidata.org/entity/Q34149506
description
2011 nî lūn-bûn
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2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2011 թվականի փետրվարին հրատարակված գիտական հոդված
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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name
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@ast
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@en
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@nl
type
label
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@ast
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@en
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@nl
prefLabel
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@ast
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@en
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
@nl
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CEDNIK syndrome results from loss-of-function mutations in SNAP29
@en
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10.1111/J.1365-2133.2010.10133.X
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