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See syndrome syndrome in the Gene database

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Items: 1 to 20 of 48

1.

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Tessadori F, Roessler HI, Savelberg SMC, Chocron S, Kamel SM, Duran KJ, van Haelst MM, van Haaften G, Bakkers J.

Dis Model Mech. 2018 Oct 18;11(10). pii: dmm035469. doi: 10.1242/dmm.035469.

2.

Cardiovascular consequences of KATP overactivity in Cantu syndrome.

Huang Y, McClenaghan C, Harter TM, Hinman K, Halabi CM, Matkovich SJ, Zhang H, Brown GS, Mecham RP, England SK, Kovacs A, Remedi MS, Nichols CG.

JCI Insight. 2018 Aug 9;3(15). pii: 121153. doi: 10.1172/jci.insight.121153. [Epub ahead of print]

3.

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D.

Appl Clin Genet. 2018 Mar 23;11:15-21. doi: 10.2147/TACG.S155022. eCollection 2018. Erratum in: Appl Clin Genet. 2018 May 31;11:75.

4.

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Roessler HI, Volker-Touw CML, Terhal PA, van Haaften G, van Haelst MM.

Clin Dysmorphol. 2018 Jul;27(3):78-83. doi: 10.1097/MCD.0000000000000219. No abstract available.

PMID:
29595750
5.

Cantú syndrome with coexisting familial pituitary adenoma.

Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M.

Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11.

6.

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.

McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK, van Haaften G, Nichols CG.

J Biol Chem. 2018 Feb 9;293(6):2041-2052. doi: 10.1074/jbc.RA117.000351. Epub 2017 Dec 22.

PMID:
29275331
7.

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

Cooper PE, McClenaghan C, Chen X, Stary-Weinzinger A, Nichols CG.

J Biol Chem. 2017 Oct 20;292(42):17387-17398. doi: 10.1074/jbc.M117.804971. Epub 2017 Aug 23.

8.

Cantú Syndrome Associated with Ovarian Agenesis.

Fryssira H, Psoni S, Amenta S, Tsoutsou E, Sofocleous C, Manolakos E, Gavra M, Lüdecke HJ, Czeschik JC.

Mol Syndromol. 2017 Jun;8(4):206-210. doi: 10.1159/000471247. Epub 2017 May 10.

9.

Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome.

Kim H, Kim S, Jeon H, Kim J, Yoo J, Seong M, Park S.

Clin Lab. 2017 May 1;63(5):991-995. doi: 10.7754/Clin.Lab.2017.170107.

PMID:
28627835
10.

Clinical utility gene card for: Cantú syndrome.

Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK.

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4. No abstract available.

11.

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
12.

A new type of ATP-sensitive potassium channelopathy : Cantú syndrome.

Hiraki Y, Takanari H.

No To Hattatsu. 2016 Sep;48(5):325-31. Review. Japanese.

PMID:
30010274
13.

Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.

Leon Guerrero CR, Pathak S, Grange DK, Singh GK, Nichols CG, Lee JM, Vo KD.

Neurology. 2016 Jul 19;87(3):270-6. doi: 10.1212/WNL.0000000000002861. Epub 2016 Jun 17.

14.

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.

15.

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.

16.

The shifting landscape of KATP channelopathies and the need for 'sharper' therapeutics.

Kharade SV, Nichols C, Denton JS.

Future Med Chem. 2016 May;8(7):789-802. doi: 10.4155/fmc-2016-0005. Epub 2016 May 10. Review.

17.

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
18.

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.

19.

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
20.

Modeling Clinical States and Metabolic Rhythms in Bioarcheology.

Qualls C, Bianucci R, Spilde MN, Phillips G, Wu C, Appenzeller O.

Biomed Res Int. 2015;2015:818724. doi: 10.1155/2015/818724. Epub 2015 Aug 6.

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