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Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Acierno JS Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF Jr. Pitteloud N, et al. Among authors: ma j. Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6281-6. doi: 10.1073/pnas.0600962103. Epub 2006 Apr 10. Proc Natl Acad Sci U S A. 2006. PMID: 16606836 Free PMC article.
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Falardeau J, et al. Among authors: ma j. J Clin Invest. 2008 Aug;118(8):2822-31. doi: 10.1172/JCI34538. J Clin Invest. 2008. PMID: 18596921 Free PMC article.
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu S, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N. Raivio T, et al. Among authors: ma j. J Clin Endocrinol Metab. 2009 Nov;94(11):4380-90. doi: 10.1210/jc.2009-0179. Epub 2009 Oct 9. J Clin Endocrinol Metab. 2009. PMID: 19820032 Free PMC article.
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr. Pitteloud N, et al. Among authors: ma j. Mol Cell Endocrinol. 2006 Jul 25;254-255:60-9. doi: 10.1016/j.mce.2006.04.021. Epub 2006 Jun 9. Mol Cell Endocrinol. 2006. PMID: 16764984
A crystallographic snapshot of tyrosine trans-phosphorylation in action.
Chen H, Xu CF, Ma J, Eliseenkova AV, Li W, Pollock PM, Pitteloud N, Miller WT, Neubert TA, Mohammadi M. Chen H, et al. Among authors: ma j. Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19660-5. doi: 10.1073/pnas.0807752105. Epub 2008 Dec 5. Proc Natl Acad Sci U S A. 2008. PMID: 19060208 Free PMC article.
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG, Chen H, Ibrahimi OA, Byron SA, Curtis AV, Wellens CL, Bengston A, Yudt LM, Eliseenkova AV, Ma J, Curtin JA, Hyder P, Harper UL, Riedesel E, Mann GJ, Trent JM, Bastian BC, Meltzer PS, Mohammadi M, Pollock PM. Gartside MG, et al. Among authors: ma j. Mol Cancer Res. 2009 Jan;7(1):41-54. doi: 10.1158/1541-7786.MCR-08-0021. Mol Cancer Res. 2009. PMID: 19147536 Free PMC article.
Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Raivio T, Sidis Y, Plummer L, Chen H, Ma J, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu S, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N. Raivio T, et al. Among authors: ma j. Endocr Rev. 2009 Dec 1;30(7):934. doi: 10.1210/edrv.30.7.9981. Endocr Rev. 2009. PMID: 28199515 No abstract available.
Impaired FGF signaling contributes to cleft lip and palate.
Riley BM, Mansilla MA, Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, Russo ET, Vieira AR, Dodé C, Mohammadi M, Marazita ML, Murray JC. Riley BM, et al. Among authors: ma j. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4512-7. doi: 10.1073/pnas.0607956104. Epub 2007 Mar 6. Proc Natl Acad Sci U S A. 2007. PMID: 17360555 Free PMC article.
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