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Items: 13

1.

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

Xu C, Messina A, Somm E, Miraoui H, Kinnunen T, Acierno J Jr, Niederländer NJ, Bouilly J, Dwyer AA, Sidis Y, Cassatella D, Sykiotis GP, Quinton R, De Geyter C, Dirlewanger M, Schwitzgebel V, Cole TR, Toogood AA, Kirk JM, Plummer L, Albrecht U, Crowley WF Jr, Mohammadi M, Tena-Sempere M, Prevot V, Pitteloud N.

EMBO Mol Med. 2017 Oct;9(10):1379-1397. doi: 10.15252/emmm.201607376.

2.

An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.

Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine, Vuzman D.

Rheumatology (Oxford). 2016 Mar;55(3):586-9. doi: 10.1093/rheumatology/kev367. Epub 2015 Oct 22. No abstract available.

3.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N.

Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.

4.

FGF/FGFR signaling in bone formation: progress and perspectives.

Marie PJ, Miraoui H, Sévère N.

Growth Factors. 2012 Apr;30(2):117-23. doi: 10.3109/08977194.2012.656761. Epub 2012 Feb 1. Review.

PMID:
22292523
5.

Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.

Miraoui H, Dwyer A, Pitteloud N.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):37-43. doi: 10.1016/j.mce.2011.05.042. Epub 2011 Jun 1. Review.

7.

Fibroblast growth factor receptor signaling crosstalk in skeletogenesis.

Miraoui H, Marie PJ.

Sci Signal. 2010 Nov 2;3(146):re9. doi: 10.1126/scisignal.3146re9. Review.

PMID:
21045207
8.

Pivotal role of Twist in skeletal biology and pathology.

Miraoui H, Marie PJ.

Gene. 2010 Nov 15;468(1-2):1-7. doi: 10.1016/j.gene.2010.07.013. Epub 2010 Aug 7. Review.

PMID:
20696219
9.

Molecular silencing of Twist1 enhances osteogenic differentiation of murine mesenchymal stem cells: implication of FGFR2 signaling.

Miraoui H, Severe N, Vaudin P, Pagès JC, Marie PJ.

J Cell Biochem. 2010 Aug 1;110(5):1147-54. doi: 10.1002/jcb.22628.

PMID:
20564211
10.

Autocrine fibroblast growth factor 18 mediates dexamethasone-induced osteogenic differentiation of murine mesenchymal stem cells.

Hamidouche Z, Fromigué O, Nuber U, Vaudin P, Pages JC, Ebert R, Jakob F, Miraoui H, Marie PJ.

J Cell Physiol. 2010 Aug;224(2):509-15. doi: 10.1002/jcp.22152.

PMID:
20432451
11.

Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.

Miraoui H, Ringe J, Häupl T, Marie PJ.

Hum Mol Genet. 2010 May 1;19(9):1678-89. doi: 10.1093/hmg/ddq045. Epub 2010 Feb 2.

PMID:
20124286
12.

Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling.

Miraoui H, Oudina K, Petite H, Tanimoto Y, Moriyama K, Marie PJ.

J Biol Chem. 2009 Feb 20;284(8):4897-904. doi: 10.1074/jbc.M805432200. Epub 2008 Dec 30.

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