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Results: 1 to 20 of 24

Cited In for PubMed (Select 10814716)

1.

Genetics of cerebral cavernous malformations: current status and future prospects.

Choquet H, Pawlikowska L, Lawton MT, Kim H.

J Neurosurg Sci. 2015 Sep;59(3):211-20. Epub 2015 Apr 22.

PMID:
25900426
2.

The structure of the ternary complex of Krev interaction trapped 1 (KRIT1) bound to both the Rap1 GTPase and the heart of glass (HEG1) cytoplasmic tail.

Gingras AR, Puzon-McLaughlin W, Ginsberg MH.

J Biol Chem. 2013 Aug 16;288(33):23639-49. doi: 10.1074/jbc.M113.462911. Epub 2013 Jun 27.

3.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM.

Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31.

4.

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.

Haasdijk RA, Cheng C, Maat-Kievit AJ, Duckers HJ.

Eur J Hum Genet. 2012 Feb;20(2):134-40. doi: 10.1038/ejhg.2011.155. Epub 2011 Aug 10. Review.

5.

Pathogenesis of vascular anomalies.

Boon LM, Ballieux F, Vikkula M.

Clin Plast Surg. 2011 Jan;38(1):7-19. doi: 10.1016/j.cps.2010.08.012. Review.

6.

Venous malformation: update on aetiopathogenesis, diagnosis and management.

Dompmartin A, Vikkula M, Boon LM.

Phlebology. 2010 Oct;25(5):224-35. doi: 10.1258/phleb.2009.009041. Review.

7.

Defining the functional domain of programmed cell death 10 through its interactions with phosphatidylinositol-3,4,5-trisphosphate.

Dibble CF, Horst JA, Malone MH, Park K, Temple B, Cheeseman H, Barbaro JR, Johnson GL, Bencharit S.

PLoS One. 2010 Jul 23;5(7):e11740. doi: 10.1371/journal.pone.0011740.

8.

CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations.

Zheng X, Xu C, Di Lorenzo A, Kleaveland B, Zou Z, Seiler C, Chen M, Cheng L, Xiao J, He J, Pack MA, Sessa WC, Kahn ML.

J Clin Invest. 2010 Aug;120(8):2795-804. doi: 10.1172/JCI39679. Epub 2010 Jul 1.

9.

Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development.

He Y, Zhang H, Yu L, Gunel M, Boggon TJ, Chen H, Min W.

Sci Signal. 2010 Apr 6;3(116):ra26. doi: 10.1126/scisignal.2000722. Erratum in: Sci Signal. 2010;3(121):er4.

10.

Control of cell adhesion dynamics by Rap1 signaling.

Boettner B, Van Aelst L.

Curr Opin Cell Biol. 2009 Oct;21(5):684-93. doi: 10.1016/j.ceb.2009.06.004. Epub 2009 Jul 16. Review.

11.

From germline towards somatic mutations in the pathophysiology of vascular anomalies.

Limaye N, Boon LM, Vikkula M.

Hum Mol Genet. 2009 Apr 15;18(R1):R65-74. doi: 10.1093/hmg/ddp002. Review.

12.

From blue jeans to blue genes.

Boon LM, Vikkula M.

J Craniofac Surg. 2009 Mar;20 Suppl 1:703-6. doi: 10.1097/SCS.0b013e318193d7a0. Erratum in: J Craniofac Surg. 2009 Sep;20(5):1629-30.

13.

Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.

Toll A, Parera E, Giménez-Arnau AM, Pou A, Lloreta J, Limaye N, Vikkula M, Pujol RM.

Dermatology. 2009;218(4):307-13. doi: 10.1159/000199461. Epub 2009 Jan 31.

14.

Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway.

Kleaveland B, Zheng X, Liu JJ, Blum Y, Tung JJ, Zou Z, Sweeney SM, Chen M, Guo L, Lu MM, Zhou D, Kitajewski J, Affolter M, Ginsberg MH, Kahn ML.

Nat Med. 2009 Feb;15(2):169-76. doi: 10.1038/nm.1918. Epub 2009 Jan 18. Erratum in: Nat Med. 2009 May;15(5):584. Sweeney, Shawn M [added].

15.

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.

Pagenstecher A, Stahl S, Sure U, Felbor U.

Hum Mol Genet. 2009 Mar 1;18(5):911-8. doi: 10.1093/hmg/ddn420. Epub 2008 Dec 16.

16.

KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions.

Glading A, Han J, Stockton RA, Ginsberg MH.

J Cell Biol. 2007 Oct 22;179(2):247-54.

17.

Cerebral cavernous malformation: new molecular and clinical insights.

Revencu N, Vikkula M.

J Med Genet. 2006 Sep;43(9):716-21. Epub 2006 Mar 29. Review.

18.

Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis.

Timur AA, Driscoll DJ, Wang Q.

Cell Mol Life Sci. 2005 Jul;62(13):1434-47. Review.

19.

Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations.

Plummer NW, Gallione CJ, Srinivasan S, Zawistowski JS, Louis DN, Marchuk DA.

Am J Pathol. 2004 Nov;165(5):1509-18.

20.

Mutations within the MGC4607 gene cause cerebral cavernous malformations.

Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid AL, Comoy J, Frerebeau P, Gilbert B, Houtteville JP, Jan M, Lapierre F, Loiseau H, Menei P, Mercier P, Moreau JJ, Nivelon-Chevallier A, Parker F, Redondo AM, Scarabin JM, Tremoulet M, Zerah M, Maciazek J, Tournier-Lasserve E; Société Française de Neurochirurgie.

Am J Hum Genet. 2004 Feb;74(2):326-37. Epub 2004 Jan 22.

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