The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.
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Neurobeachin is required postsynaptically for electrical and chemical synapse formationSpontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in MiceNovel protein Callipygian defines the back of migrating cells.A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.Update on the causes of platelet disorders and functional consequences.The Nbeal2(-/-) mouse as a model for the gray platelet syndrome.Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and ImmunodeficiencyDawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.α-granule biogenesis: from disease to discovery.The BEACH Domain Protein SPIRRIG Is Essential for Arabidopsis Salt Stress Tolerance and Functions as a Regulator of Transcript Stabilization and LocalizationRegulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorderNuclear Localization of the Autism Candidate Gene Neurobeachin and Functional Interaction with the NOTCH1 Intracellular Domain Indicate a Role in Regulating Transcription.Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).Neurologic involvement in patients with atypical Chediak-Higashi disease.Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brainLRBA is Essential for Allogeneic Responses in Bone Marrow TransplantationSmall interfering RNA-mediated silencing of nicotinamide phosphoribosyltransferase (NAMPT) and lysosomal trafficking regulator (LYST) induce growth inhibition and apoptosis in human multiple myeloma cells: A preliminary study.Lysosomal trafficking regulator Lyst links membrane trafficking to toll-like receptor-mediated inflammatory responses.Platelet secretion: From haemostasis to wound healing and beyond.The Multifunctions of WD40 Proteins in Genome Integrity and Cell Cycle Progression.Spectrum of Phenotypes Associated with Mutations in LRBA.Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.Identification of β-catenin-interacting proteins in nuclear fractions of native rat collecting duct cells.Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.NBEAL2 is required for neutrophil and NK cell function and pathogen defense.Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation.Immunological phenotype of the murine Lrba knockout.Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.Peripheral nervous system manifestations of Chediak-Higashi disease.Adaptive introgression from distant Caribbean islands contributed to the diversification of a microendemic adaptive radiation of trophic specialist pupfishesThe BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.Immunogenicity of DNA Vaccine against H5N1 Containing Extended Kappa B Site: In Vivo Study in Mice and Chickens.Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.Nbeal2 interacts with Dock7, Sec16a, and Vac14.Physical, Functional and Genetic Interactions between the BEACH Domain Protein SPIRRIG and LIP5 and SKD1 and Its Role in Endosomal Trafficking to the Vacuole in Arabidopsis.
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P2860
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.
description
2013 nî lūn-bûn
@nan
2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@ast
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@en
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@nl
type
label
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@ast
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@en
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@nl
prefLabel
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@ast
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@en
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@nl
P2093
P2860
P356
P1433
P1476
The BEACH is hot: a LYST of em ...... ing proteins in human disease.
@en
P2093
Alejandro A Schäffer
Andrew R Cullinane
Marjan Huizing
P2860
P304
P356
10.1111/TRA.12069
P577
2013-04-24T00:00:00Z