Thys C - Search Results

1

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium; Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD. Stritt S, et al. Among authors: thys c. Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24. Blood. 2016. PMID: 26912466 Free article.

2

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.

Freson K, Matthijs G, Thys C, Mariën P, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Among authors: thys c. Hum Mol Genet. 2002 Jan 15;11(2):147-52. doi: 10.1093/hmg/11.2.147. Hum Mol Genet. 2002. PMID: 11809723 Free article.

3

Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.

Freson K, Thys C, Wittevrongel C, Proesmans W, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Among authors: thys c. Hum Mol Genet. 2002 Oct 15;11(22):2741-50. doi: 10.1093/hmg/11.22.2741. Hum Mol Genet. 2002. PMID: 12374764

4

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions.

Freson K, Thys C, Wittewrongel C, Vermylen J, Hoylaerts MF, Van Geet C. Freson K, et al. Among authors: thys c. Hum Genet. 2003 Jan;112(1):42-9. doi: 10.1007/s00439-002-0832-1. Epub 2002 Oct 16. Hum Genet. 2003. PMID: 12483298

5

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.

Freson K, Jaeken J, Van Helvoirt M, de Zegher F, Wittevrongel C, Thys C, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Among authors: thys c. Hum Mol Genet. 2003 May 15;12(10):1121-30. doi: 10.1093/hmg/ddg130. Hum Mol Genet. 2003. PMID: 12719376

6

The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation.

Freson K, Hashimoto H, Thys C, Wittevrongel C, Danloy S, Morita Y, Shintani N, Tomiyama Y, Vermylen J, Hoylaerts MF, Baba A, Van Geet C. Freson K, et al. Among authors: thys c. J Clin Invest. 2004 Mar;113(6):905-12. doi: 10.1172/JCI19252. J Clin Invest. 2004. PMID: 15067323 Free PMC article.

7

The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.

Freson K, De Vos R, Wittevrongel C, Thys C, Defoor J, Vanhees L, Vermylen J, Peerlinck K, Van Geet C. Freson K, et al. Among authors: thys c. Blood. 2005 Oct 1;106(7):2356-62. doi: 10.1182/blood-2005-02-0723. Epub 2005 Jun 14. Blood. 2005. PMID: 15956286 Free article.

8

Mechanisms of action and targets for actual and future antiplatelet drugs.

Freson K, Thys C, Wittevrongel C, Van Geet C. Freson K, et al. Among authors: thys c. Mini Rev Med Chem. 2006 Jun;6(6):719-26. doi: 10.2174/138955706777435661. Mini Rev Med Chem. 2006. PMID: 16787383 Review.

9

What's new in using platelet research? To unravel thrombopathies and other human disorders.

Freson K, Labarque V, Thys C, Wittevrongel C, Geet CV. Freson K, et al. Among authors: thys c. Eur J Pediatr. 2007 Dec;166(12):1203-10. doi: 10.1007/s00431-007-0543-7. Epub 2007 Jul 10. Eur J Pediatr. 2007. PMID: 17619901 Free PMC article. Review.

10

Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery.

Labarque V, Freson K, Thys C, Wittevrongel C, Hoylaerts MF, De Vos R, Goemans N, Van Geet C. Labarque V, et al. Among authors: thys c. Hum Mol Genet. 2008 Feb 1;17(3):357-66. doi: 10.1093/hmg/ddm312. Epub 2007 Nov 1. Hum Mol Genet. 2008. PMID: 17981813

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