Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins
about
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunityPatients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapyCrystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domainBph1p, the Saccharomyces cerevisiae homologue of CHS1/beige, functions in cell wall formation and protein sorting.Suppression of LPS-induced TNF-alpha production in macrophages by cAMP is mediated by PKA-AKAP95-p105Autoimmunity in primary T-cell immunodeficiencies.BEACH family of proteins: phylogenetic and functional analysis of six Dictyostelium BEACH proteins.Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.A large-scale multi-technique approach identifies forty-nine new players of keratinocyte terminal differentiation in human epidermis.HMMerThread: detecting remote, functional conserved domains in entire genomes by combining relaxed sequence-database searches with fold recognition.Proteomic analysis of V-ATPase-rich cells harvested from the kidney and epididymis by fluorescence-activated cell sorting.Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.The WD repeat protein FAN regulates lysosome size independent from abnormal downregulation/membrane recruitment of protein kinase C.The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.Chronic obstructive pulmonary disease * 3: Experimental animal models of pulmonary emphysema.Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response.Genome-wide SNP typing reveals signatures of population history.LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiencyLRBA is Essential for Allogeneic Responses in Bone Marrow TransplantationLRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.Autoimmunity in immunodeficiency.Genomics of Immune Diseases and New Therapies.Evaluation of Known Defective Signaling-Associated Molecules in Patients Who Primarily Diagnosed as Common Variable Immunodeficiency.CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm.The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.Immunological phenotype of the murine Lrba knockout.Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.Dendritic spine formation and synaptic function require neurobeachin.Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiencyDeregulated expression of LRBA facilitates cancer cell growth.Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.The Dictyostelium LvsA protein is localized on the contractile vacuole and is required for osmoregulation.IMMUNOLOGY. Moving CTLA-4 from the trash to recycling."Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency.LRBA in the endomembrane system
P2860
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P2860
Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins
description
2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2001
@ast
im April 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2001/04/01)
@sk
vědecký článek publikovaný v roce 2001
@cs
wetenschappelijk artikel (gepubliceerd op 2001/04/01)
@nl
наукова стаття, опублікована у квітні 2001
@uk
مقالة علمية (نشرت في أبريل 2001)
@ar
name
Identification of a novel lipo ...... oteins and chs1/beige proteins
@ast
Identification of a novel lipo ...... oteins and chs1/beige proteins
@en
Identification of a novel lipo ...... oteins and chs1/beige proteins
@nl
type
label
Identification of a novel lipo ...... oteins and chs1/beige proteins
@ast
Identification of a novel lipo ...... oteins and chs1/beige proteins
@en
Identification of a novel lipo ...... oteins and chs1/beige proteins
@nl
prefLabel
Identification of a novel lipo ...... oteins and chs1/beige proteins
@ast
Identification of a novel lipo ...... oteins and chs1/beige proteins
@en
Identification of a novel lipo ...... oteins and chs1/beige proteins
@nl
P2093
P3181
P1476
Identification of a novel lipo ...... oteins and chs1/beige proteins
@en
P2093
P304
P3181
P356
10.4049/JIMMUNOL.166.7.4586
P407
P577
2001-04-01T00:00:00Z