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Items: 1 to 20 of 95

1.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH.

Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28.

2.

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG.

Hum Mutat. 2014 Jul;35(7):809-13. doi: 10.1002/humu.22555. Epub 2014 May 6.

3.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E.

Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.

PMID:
22610116
4.

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.

Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, Matsumoto N.

Am J Med Genet A. 2014 Jan;164A(1):231-6. doi: 10.1002/ajmg.a.36228. Epub 2013 Nov 25.

PMID:
24352916
5.

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

Cooper PE, Sala-Rabanal M, Lee SJ, Nichols CG.

J Gen Physiol. 2015 Dec;146(6):527-40. doi: 10.1085/jgp.201511495.

6.

Cantú syndrome is caused by mutations in ABCC9.

van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A.

Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17.

7.

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Afifi HH, Abdel-Hamid MS, Eid MM, Mostafa IS, Abdel-Salam GM.

Pediatr Dermatol. 2016 Mar-Apr;33(2):e109-13. doi: 10.1111/pde.12821. Epub 2016 Feb 12.

PMID:
26871653
8.

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

Czeschik JC, Voigt C, Goecke TO, Lüdecke HJ, Wagner N, Kuechler A, Wieczorek D.

Am J Med Genet A. 2013 Feb;161A(2):295-300. doi: 10.1002/ajmg.a.35735. Epub 2013 Jan 10.

PMID:
23307537
9.

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

Levin MD, Zhang H, Uchida K, Grange DK, Singh GK, Nichols CG.

Heart Rhythm. 2015 Nov;12(11):2316-24. doi: 10.1016/j.hrthm.2015.06.042. Epub 2015 Jun 30.

10.

K(ATP) channel gain-of-function leads to increased myocardial L-type Ca(2+) current and contractility in Cantu syndrome.

Levin MD, Singh GK, Zhang HX, Uchida K, Kozel BA, Stein PK, Kovacs A, Westenbroek RE, Catterall WA, Grange DK, Nichols CG.

Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6773-8. doi: 10.1073/pnas.1606465113. Epub 2016 May 31.

11.

KATP channels and cardiovascular disease: suddenly a syndrome.

Nichols CG, Singh GK, Grange DK.

Circ Res. 2013 Mar 29;112(7):1059-72. doi: 10.1161/CIRCRESAHA.112.300514. Review.

12.

ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.

Nelson PT, Jicha GA, Wang WX, Ighodaro E, Artiushin S, Nichols CG, Fardo DW.

Ageing Res Rev. 2015 Nov;24(Pt B):111-25. doi: 10.1016/j.arr.2015.07.007. Epub 2015 Jul 28. Review.

13.

Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection.

Nichols CG.

Card Electrophysiol Clin. 2016 Jun;8(2):323-35. doi: 10.1016/j.ccep.2016.01.005. Epub 2016 Mar 19. Review.

14.

Increased tolerance to stress in cardiac expressed gain-of-function of adenosine triphosphate-sensitive potassium channel subunit Kir6.1.

Henn MC, Janjua MB, Zhang H, Kanter EM, Makepeace CM, Schuessler RB, Nichols CG, Lawton JS.

J Surg Res. 2016 Dec;206(2):460-465. doi: 10.1016/j.jss.2016.08.043. Epub 2016 Aug 12.

PMID:
27884343
15.

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

Engels H, Bosse K, Ehrbrecht A, Zahn S, Hoischen A, Propping P, Bindl L, Reutter H.

Am J Med Genet. 2002 Aug 1;111(2):205-9. Review.

PMID:
12210352
16.

Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.

Barajas-Martínez H, Hu D, Ferrer T, Onetti CG, Wu Y, Burashnikov E, Boyle M, Surman T, Urrutia J, Veltmann C, Schimpf R, Borggrefe M, Wolpert C, Ibrahim BB, Sánchez-Chapula JA, Winters S, Haïssaguerre M, Antzelevitch C.

Heart Rhythm. 2012 Apr;9(4):548-55. doi: 10.1016/j.hrthm.2011.10.035. Epub 2011 Nov 3.

17.

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.

Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.

Dermatology. 2011;223(4):316-20. doi: 10.1159/000333800. Epub 2012 Feb 3.

18.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome.

Garcia-Cruz D, Sánchez-Corona J, Nazará Z, Garcia-Crúz MO, Figuera LE, Castañeda V, Cantú JM.

Am J Med Genet. 1997 Mar 17;69(2):138-51.

PMID:
9056550
19.

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.

Medeiros-Domingo A, Tan BH, Crotti L, Tester DJ, Eckhardt L, Cuoretti A, Kroboth SL, Song C, Zhou Q, Kopp D, Schwartz PJ, Makielski JC, Ackerman MJ.

Heart Rhythm. 2010 Oct;7(10):1466-71. doi: 10.1016/j.hrthm.2010.06.016. Epub 2010 Jun 15.

20.

Topical sulfonylurea as a novel therapy for hypertrichosis secondary to diazoxide, and potentially for other conditions with excess hair growth.

Newfield RS.

Med Hypotheses. 2015 Dec;85(6):969-71. doi: 10.1016/j.mehy.2015.08.025. Epub 2015 Sep 5.

PMID:
26392140

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