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Mapped to the bovine Y chromosome (BTAY) by fluorescence in situ hybridization (FISH) and/or radiation hybrid (RH) mapping.
Family-based whole genome analysis of a family with hereditary pulmonary alveolar proteinosis revealed a homozygous deletion that disrupts CSF2RA, CRLF2, and IL3RA gene in the pseudoautosomal region of the X chromosome in the affected child and one of asymptomatic siblings.
lesions 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 receptor suggest a molecular mechanism for affinity conversion and receptor signaling.
regulatory molecule causative of aortic dissection and intramural haematoma
Our cohort broadens the spectrum of knowledge about the clinical variability and genotype-phenotype correlations of juvenile PAP, 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 can be inhibited by at least two approaches: inhibition by GM-CSF neutralising antibodies, or blockade of GM-CSF binding to its receptor by antibodies against the GM-CSF receptor alpha chain CSF2Ralpha.
The GM-CSF 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.
The expression rate of GM-CSFR in myelodysplastic syndrome patients was significantly higher than in aplastic anemia patients and controls.
67-kDa laminin receptor expression influenced the characteristics of leukemia cells toward an aggressive phenotype and increased the number of granulocyte-macrophage colony-stimulating factor receptors
Data show that Deletion of the Ig-like domain of GM-CSFRalpha abolished direct GM-CSF binding and decreased growth signalling in the presence of hbetac.
The cytosolic domain of the hGM Ralpha chain is required for differentiation mediated by activation of the hGM Ralpha, beta(c) receptor complex.
soluble forms of the GM-CSF receptor alpha chain and beta chain were produced and a novel mechanism of receptor assembly was demonstrated
Constitutive secretion of soluble GMR alpha by monocytes (but not lymphocytes) is up-regulated by GM-CSF and inflammatory mediators in a protein form that represents a mixed population of alternatively spliced and proteolytically cleaved species.
Analysis of the 5' promoter of the GM-CSF receptor alpha gene.
identified the alpha-chain of the GMCSF receptor as interaction partner of IkappaB kinase beta; direct interaction of IKKbeta and GMRalpha in cells was verified.
GM-CSF receptors exhibit different modes of signaling in a factor-dependent bipotential myeloid cell line.
used the intracellular portion of the alpha subunit of the GM-CSF receptor to search for interacting proteins and identified the 67-kDa laminin receptor as a binding partner
GM-CSF 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 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 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