A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
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Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cordEarly steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formationPathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismCargos and genes: insights into vesicular transport from inherited human diseaseNaegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Genes and brain malformations associated with abnormal neuron positioningCharcot-Marie-Tooth disease and intracellular trafficMultiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation in Drosophila.Involvement of corneodesmosome degradation and lamellar granule transportation in the desquamation processA 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 ichthyosis22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.Caenorhabditis elegans SNAP-29 is required for organellar integrity of the endomembrane system and general exocytosis in intestinal epithelial cells.TSSC1 is novel component of the endosomal retrieval machineryOn the growth of scientific knowledge: yeast biology as a case studyLoss of SNAP29 impairs endocytic recycling and cell motilityCEDNIK syndrome results from loss-of-function mutations in SNAP29.Lamellar granule secretion starts before the establishment of tight junction barrier for paracellular tracers in mammalian epidermisA novel function for SNAP29 (synaptosomal-associated protein of 29 kDa) in mast cell phagocytosis.Essential roles of snap-29 in C. elegans.Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisSNAP23 is selectively expressed in airway secretory cells and mediates baseline and stimulated mucin secretion.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 mutationInherited ichthyoses/generalized Mendelian disorders of cornification.SNAREs in neurons--beyond synaptic vesicle exocytosis (Review).Hemizygous 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.Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.A developmental and genetic classification for midbrain-hindbrain malformations.Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.Recognition and diagnosis of neuro-ichthyotic syndromes.Dedicated SNAREs and specialized TRIM cargo receptors mediate secretory autophagy.An essential step of kinetochore formation controlled by the SNARE protein Snap29.A practical approach to ichthyoses with systemic manifestations.Identification of roles for the SNARE-associated protein, SNAP29, in mouse platelets.A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.Identification of genetic loci associated with different responses to high-fat diet-induced obesity in C57BL/6N and C57BL/6J substrains.
P2860
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P2860
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
description
2005 nî lūn-bûn
@nan
2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@ast
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@en
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@en-gb
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@nl
type
label
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@ast
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@en
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@en-gb
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@nl
prefLabel
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@ast
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@en
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@en-gb
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@nl
P2093
P2860
P3181
P356
P1476
A mutation in SNAP29, coding f ...... , and palmoplantar keratoderma
@en
P2093
Dan Geiger
Dani Bercovich
Debora Rapaport
Dorit Goldsher
Eli Sprecher
Hanna Mandel
Hanni Keren
Ilana Chefetz
Margarita Indelman
Mia Horowitz
P2860
P304
P3181
P356
10.1086/432556
P407
P577
2005-08-01T00:00:00Z