Recombinant Human Granulocyte-macrophage colony-stimulating factor receptor subunit alpha (CSF2RA), partial

1. 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. PMID: 28233860
2. lesions from human secondary progressive multiple sclerosis, but not primary progressive multiple sclerosis patients shows extensive recruitment of GM-CSF Ralpha+ myeloid cells PMID: 28641926
3. Conformational changes in the GM-CSF receptor suggest a molecular mechanism for affinity conversion and receptor signaling. PMID: 27396825
4. regulatory molecule causative of aortic dissection and intramural haematoma PMID: 25923510
5. 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 PMID: 25425184
6. 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. PMID: 24714374
7. 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. PMID: 23933508
8. The GM-CSF Ralpha were ubiquitously but not uniformly expressed in neurons throughout the brain and downregulation in brain in patient with alzheimenr disease. PMID: 22430742
9. This study reveals a novel functional role of clathrin-coated structure in GMR signaling and the oncogenesis of JAK2V617F. PMID: 22935703
10. 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. PMID: 21557945
11. The expression rate of GM-CSFR in myelodysplastic syndrome patients was significantly higher than in aplastic anemia patients and controls. PMID: 19099633
12. 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 PMID: 21056082
13. The cytosolic domain of the hGM Ralpha chain is required for differentiation mediated by activation of the hGM Ralpha, beta(c) receptor complex. PMID: 12384414
14. soluble forms of the GM-CSF receptor alpha chain and beta chain were produced and a novel mechanism of receptor assembly was demonstrated PMID: 12393492
15. 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. PMID: 12421947
16. Analysis of the 5' promoter of the GM-CSF receptor alpha gene. PMID: 12504125
17. 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. PMID: 12637324
18. GM-CSF receptors exhibit different modes of signaling in a factor-dependent bipotential myeloid cell line. PMID: 14504109
19. 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 PMID: 14614142
20. receptors alphaGMR and c-Kit could interact to coordinate their signal initiation; alphaGMR inhibited c-Kit auto-phosphorylation induced by the ligand stem cell factor PMID: 16760463
21. Sequencing of colony stimulating factor, receptor 2 alpha in an independent case-control cohort revealed both common intronic haplotypes and several novel, rare missense variants associated with schizophrenia. PMID: 17522711
22. The novel GMRalpha transcript identified herein contains a previously undescribed exon of the GMRalpha gene; this exon derives from an Alu DNA repeat element PMID: 17681666
23. Results highlight the importance of GM-CSFR expression in monocytes for cytokine-induced myeloid dendritic cells (DC) generation and point to GM-CSF as a direct player in the generation of functionally distinct DC. PMID: 18236400
24. best diffracting crystals of ternary complex were obtained using the N346Q mutation of the betac subunit. Crystals grew using polyethylene glycol 3350 with a high concentration of proline, belonged to space group P6(3)22 and diffracted to 3.3 A resolution PMID: 18678938
25. Mutagenesis of the GM-CSF receptor at the dodecamer interface and functional studies reveal that dodecamer formation is required for receptor activation and signaling. PMID: 18692472
26. Results suggest that that pulmonary alveolar proteinosis can result from a genetic deficiency of the GM-CSF receptor alpha chain, encoded in the X-chromosome pseudoautosomal region 1. PMID: 18955567
27. These results establish that GM-CSF signaling is critical for surfactant homeostasis in humans and demonstrate that mutations in CSF2RA cause familial PAP. PMID: 18955570

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HGNC: 2435

OMIM: 300770

KEGG: hsa:1438

UniGene: Hs.520937