Gilmour KC - Search Results

1

Transmembrane signaling by the alpha subunit of the type I interferon receptor is essential for activation of the JAK kinases and the transcriptional factor ISGF3.

Colamonici OR, Platanias LC, Domanski P, Handa R, Gilmour KC, Diaz MO, Reich N, Pitha-Rowe P. Colamonici OR, et al. Among authors: gilmour kc. J Biol Chem. 1995 Apr 7;270(14):8188-93. doi: 10.1074/jbc.270.14.8188. J Biol Chem. 1995. PMID: 7713924 Free article.

2

Signal transduction and activation of gene transcription by interferons.

Gilmour KC, Reich NC. Gilmour KC, et al. Gene Expr. 1995;5(1):1-18. Gene Expr. 1995. PMID: 7488857 Free PMC article. Review.

3

Receptor to nucleus signaling by prolactin and interleukin 2 via activation of latent DNA-binding factors.

Gilmour KC, Reich NC. Gilmour KC, et al. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):6850-4. doi: 10.1073/pnas.91.15.6850. Proc Natl Acad Sci U S A. 1994. PMID: 8041708 Free PMC article.

4

Interleukin 2 activates STAT5 transcription factor (mammary gland factor) and specific gene expression in T lymphocytes.

Gilmour KC, Pine R, Reich NC. Gilmour KC, et al. Proc Natl Acad Sci U S A. 1995 Nov 7;92(23):10772-6. doi: 10.1073/pnas.92.23.10772. Proc Natl Acad Sci U S A. 1995. PMID: 7479881 Free PMC article.

5

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.

Neves JF, Martins C, Cordeiro AI, Neves C, Plagnol V, Curtis J, Fabre M, Bibi S, Borrego LM, Moshous D, Nejentsev S, Gilmour K. Neves JF, et al. J Pediatr Hematol Oncol. 2019 May;41(4):328-333. doi: 10.1097/MPH.0000000000001232. J Pediatr Hematol Oncol. 2019. PMID: 29939941

6

Defective expression of the interleukin-2/interleukin-15 receptor beta subunit leads to a natural killer cell-deficient form of severe combined immunodeficiency.

Gilmour KC, Fujii H, Cranston T, Davies EG, Kinnon C, Gaspar HB. Gilmour KC, et al. Blood. 2001 Aug 1;98(3):877-9. doi: 10.1182/blood.v98.3.877. Blood. 2001. PMID: 11468191 Free article.

7

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MG, Swan DJ, Willet JD, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S. Engelhardt KR, et al. J Clin Immunol. 2017 Jan;37(1):42-50. doi: 10.1007/s10875-016-0343-9. Epub 2016 Nov 2. J Clin Immunol. 2017. PMID: 27807805 Free PMC article.

8

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Al Shehri T, Gilmour K, Gothe F, Loughlin S, Bibi S, Rowan AD, Grainger A, Mohanadas T, Cant AJ, Slatter MA, Hambleton S, Lilic D, Leahy TR. Al Shehri T, et al. J Clin Immunol. 2019 Nov;39(8):776-785. doi: 10.1007/s10875-019-00687-4. Epub 2019 Sep 11. J Clin Immunol. 2019. PMID: 31512162

9

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Among authors: gilmour kc. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.

10

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO. Record J, et al. Blood. 2015 Sep 24;126(13):1527-35. doi: 10.1182/blood-2014-12-611012. Epub 2015 Jul 29. Blood. 2015. PMID: 26224645 Free PMC article.

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