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Family-based whole genome analysis of a family with hereditary pulmonary alveolar proteinosis revealed a homozygous deletion that disrupts CSF2RA, CRLF2 (show CRLF2 Proteins), and IL3RA (show IL3RA Proteins) gene in the pseudoautosomal region of the X chromosome in the affected child and one of asymptomatic siblings.
lesion (show CSF2 Proteins)s from human secondary progressive multiple sclerosis, but not primary progressive multiple sclerosis patients shows extensive recruitment of GM-CSF Ralpha+ myeloid cells
Conformational changes in the GM-CSF (show CSF2 Proteins) receptor suggest a molecular mechanism for affinity conversion and receptor signaling.
Our cohort broadens the spectrum of knowledge about the clinical variability and genotype-phenotype correlations of juvenile PAP (show REG3A Proteins), and illustrates the favorable outcome of WLL treatment in severely affected patients
A possible relationship between dysfunction of the granulocyte-macrophage colony stimulating factor receptor, mapping to the pseudoautosomal X-Y region, may exist in myelodysplastic patients with initially lymphocytic Sweet syndrome.
Studies indicate the action of GM-CSF (show CSF2 Proteins) can be inhibited by at least two approaches: inhibition by GM-CSF (show CSF2 Proteins) neutralising antibodies, or blockade of GM-CSF (show CSF2 Proteins) binding to its receptor by antibodies against the GM-CSF receptor alpha chain (show FCGRT Proteins) CSF2Ralpha.
The GM-CSF (show CSF2 Proteins) Ralpha were ubiquitously but not uniformly expressed in neurons throughout the brain and downregulation in brain in patient with alzheimenr disease.
This study reveals a novel functional role of clathrin-coated structure in GMR signaling and the oncogenesis of JAK2V617F.
Identify defective expression and function of CD116 as a distinguishing feature of IBD and implicate an associated defect in innate immune responses toward granulocyte-macrophage colony-stimulating factor (show CSF2 Proteins).
The expression rate of GM-CSFR in myelodysplastic syndrome patients was significantly higher than in aplastic anemia patients and controls.
GM-CSF (show CSF2 Proteins) Ralpha blockade in relapsing-remitting experimental autoimmune encephalomyelitis prevented disease relapses and inhibited T cell responses specific for both the inducing and spread myelin peptides
a STOP mutation in the GM-CSFRalpha chain, leading to a complete and specific deficiency in GM-CSF (show CSF2 Proteins) signaling, is reported.
GM-CSFRalpha levels peaked between E13 and E15 in the brain.
Loss of the CSF2RA gene may be a critical mutation explaining the high incidence of loss of sex chromosomes associated with the t(8;21)(q22;q22) translocation.
ability to detect GM-CSF (show CSF2 Proteins) receptor expression in experimental studies should greatly facilitate the analysis of its role in immune pathologies[GM-CSF receptor alpha]
The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble.
, GM-CSF receptor alpha subunit
, colony stimulating factor 2 receptor alpha subunit
, granulocyte-macrophage colony-stimulating factor receptor alpha chain
, granulocyte-macrophage colony-stimulating factor receptor subunit alpha
, colony stimulating factor 2 receptor alpha chain