A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
about
SWELL1, a plasma membrane protein, is an essential component of volume-regulated anion channelIdentification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRACLeucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function.Volume-regulated anion channel--a frenemy within the brain.Leucine-rich repeat containing protein LRRC8A is essential for swelling-activated Cl- currents and embryonic development in zebrafishSpecific and essential but not sufficient roles of LRRC8A in the activity of volume-sensitive outwardly rectifying anion channel (VSOR)A reporter screen in a human haploid cell line identifies CYLD as a constitutive inhibitor of NF-κB.Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections.Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient.Genome-wide association study for cytokines and immunoglobulin G in swineA link between smooth muscle cell death and extracellular matrix degradation during vascular atrophyNuclear membrane diversity: underlying tissue-specific pathologies in disease?Ion channels in innate and adaptive immunityPolycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.LRRC8A channels support TNFα-induced superoxide production by Nox1 which is required for receptor endocytosis.Tissue specificity in the nuclear envelope supports its functional complexity.Newborn screening for primary immunodeficiencies: beyond SCID and XLA.The identification of a volume-regulated anion channel: an amazing Odyssey.VRAC: molecular identification as LRRC8 heteromers with differential functions.Role of volume-regulated and calcium-activated anion channels in cell volume homeostasis, cancer and drug resistanceAn interaction map of circulating metabolites, immune gene networks, and their genetic regulation.Biophysics and Physiology of the Volume-Regulated Anion Channel (VRAC)/Volume-Sensitive Outwardly Rectifying Anion Channel (VSOR).Mechanosensitivity of wild-type and G551D cystic fibrosis transmembrane conductance regulator (CFTR) controls regulatory volume decrease in simple epithelia.Ion channels in regulated cell death.Acquired cisplatin resistance in human ovarian A2780 cancer cells correlates with shift in taurine homeostasis and ability to volume regulate.The protein synthesis inhibitor blasticidin s enters mammalian cells via leucine-rich repeat-containing protein 8D.Identification of a lung cancer antigen evading CTL attack due to loss of human leukocyte antigen (HLA) class I expression.Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.Genes required for B cell development.SWELL1 is a regulator of adipocyte size, insulin signalling and glucose homeostasis.Subunit-dependent oxidative stress sensitivity of LRRC8 volume-regulated anion channels.Leucine-rich repeat-containing 8B protein is associated with the endoplasmic reticulum Ca2+ leak in HEK293 cells.LRRC8 proteins share a common ancestor with pannexins, and may form hexameric channels involved in cell-cell communication.In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides.Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function.Ion channelopathies of the immune system.Expression of LRRC8/VRAC Currents in Xenopus Oocytes: Advantages and Caveats.Structure of the human volume regulated anion channelDeficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice
P2860
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P2860
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@ast
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@en
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@en-gb
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@nl
type
label
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@ast
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@en
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@en-gb
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@nl
prefLabel
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@ast
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@en
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@en-gb
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@nl
P2093
P2860
P921
P3181
P356
P1476
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
@en
P2093
Akihisa Sawada
Hideaki Ohta
Hiroko Endo
Hiroyuki Fujisaki
Ji Yoo Kim
Junichi Hara
Keiichi Ozono
Keiko Kubota
Sadao Tokimasa
Takashi Onodera
P2860
P304
P3181
P356
10.1172/JCI18937
P407
P577
2003-12-01T00:00:00Z