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Results: 1 to 20 of 43

1.

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.

Mouton JM, Pellizzon AS, Goosen A, Kinnear CJ, Herbst PG, Brink PA, Moolman-Smook JC.

Cardiovasc J Afr. 2015 Mar-Apr;26(2):63-9. doi: 10.5830/CVJA-2015-019.

2.

Ascribing novel functions to the sarcomeric protein, myosin binding protein H (MyBPH) in cardiac sarcomere contraction.

Mouton J, Loos B, Moolman-Smook JC, Kinnear CJ.

Exp Cell Res. 2015 Feb 15;331(2):338-51. doi: 10.1016/j.yexcr.2014.11.006. Epub 2014 Nov 18.

PMID:
25449695
3.

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.

de Villiers CP, van der Merwe L, Crotti L, Goosen A, George AL Jr, Schwartz PJ, Brink PA, Moolman-Smook JC, Corfield VA.

Circ Cardiovasc Genet. 2014 Oct;7(5):599-606. doi: 10.1161/CIRCGENETICS.113.000580. Epub 2014 Aug 2.

PMID:
25087618
4.

MT-CYB mutations in hypertrophic cardiomyopathy.

Hagen CM, Aidt FH, Havndrup O, Hedley PL, Jespersgaard C, Jensen M, Kanters JK, Moolman-Smook JC, Møller DV, Bundgaard H, Christiansen M.

Mol Genet Genomic Med. 2013 May;1(1):54-65. doi: 10.1002/mgg3.5. Epub 2013 Apr 12. Erratum in: Mol Genet Genomic Med. 2013 Sep;1(3):187.

5.

Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population.

Hagen CM, Aidt FH, Hedley PL, Jensen MK, Havndrup O, Kanters JK, Moolman-Smook JC, Larsen SO, Bundgaard H, Christiansen M.

PLoS One. 2013 Aug 5;8(8):e71904. doi: 10.1371/journal.pone.0071904. Print 2013.

6.

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.

Andersen PS, Hedley PL, Page SP, Syrris P, Moolman-Smook JC, McKenna WJ, Elliott PM, Christiansen M.

Biochem Res Int. 2012;2012:685108. doi: 10.1155/2012/685108. Epub 2012 Apr 11.

7.

Solution structure of RING finger-like domain of retinoblastoma-binding protein-6 (RBBP6) suggests it functions as a U-box.

Kappo MA, Ab E, Hassem F, Atkinson RA, Faro A, Muleya V, Mulaudzi T, Poole JO, McKenzie JM, Chibi M, Moolman-Smook JC, Rees DJ, Pugh DJ.

J Biol Chem. 2012 Mar 2;287(10):7146-58. doi: 10.1074/jbc.M110.217059. Epub 2011 Nov 29.

8.

The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.

Hedley PL, Haundrup O, Andersen PS, Aidt FH, Jensen M, Moolman-Smook JC, Bundgaard H, Christiansen M.

J Negat Results Biomed. 2011 Oct 3;10:12. doi: 10.1186/1477-5751-10-12.

9.

Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C.

Uys GM, Ramburan A, Loos B, Kinnear CJ, Korkie LJ, Mouton J, Riedemann J, Moolman-Smook JC.

BMC Cell Biol. 2011 May 10;12:18. doi: 10.1186/1471-2121-12-18.

10.

Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.

Boardman L, van der Merwe L, Lochner C, Kinnear CJ, Seedat S, Stein DJ, Moolman-Smook JC, Hemmings SM.

Compr Psychiatry. 2011 Mar-Apr;52(2):181-7. doi: 10.1016/j.comppsych.2010.05.007. Epub 2010 Jul 1.

PMID:
21295225
11.

Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure.

Carstens N, van der Merwe L, Revera M, Heradien M, Goosen A, Brink PA, Moolman-Smook JC.

J Renin Angiotensin Aldosterone Syst. 2011 Sep;12(3):274-80. doi: 10.1177/1470320310390725. Epub 2010 Dec 16.

PMID:
21163866
12.

Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.

Heradien M, Revera M, van der Merwe L, Goosen A, Corfield VA, Brink PA, Mayosi BM, Moolman-Smook JC.

Heart Rhythm. 2009 Nov;6(11 Suppl):S18-24. doi: 10.1016/j.hrthm.2009.07.020. Epub 2009 Sep 1.

13.

Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.

Watkins DA, Hendricks N, Shaboodien G, Mbele M, Parker M, Vezi BZ, Latib A, Chin A, Little F, Badri M, Moolman-Smook JC, Okreglicki A, Mayosi BM; ARVC Registry of the Cardiac Arrhythmia Society of Southern Africa (CASSA).

Heart Rhythm. 2009 Nov;6(11 Suppl):S10-7. doi: 10.1016/j.hrthm.2009.08.018. Epub 2009 Sep 1.

PMID:
19880068
14.
15.

The role of the brain-derived neurotrophic factor (BDNF) val66met variant in the phenotypic expression of obsessive-compulsive disorder (OCD).

Katerberg H, Lochner C, Cath DC, de Jonge P, Bochdanovits Z, Moolman-Smook JC, Hemmings SM, Carey PD, Stein DJ, Sondervan D, Boer JA, van Balkom AJ, Polman A, Heutink P.

Am J Med Genet B Neuropsychiatr Genet. 2009 Dec 5;150B(8):1050-62. doi: 10.1002/ajmg.b.30930.

PMID:
19219856
16.

RBBP6 interacts with multifunctional protein YB-1 through its RING finger domain, leading to ubiquitination and proteosomal degradation of YB-1.

Chibi M, Meyer M, Skepu A, G Rees DJ, Moolman-Smook JC, Pugh DJ.

J Mol Biol. 2008 Dec 26;384(4):908-16. doi: 10.1016/j.jmb.2008.09.060. Epub 2008 Oct 2.

PMID:
18851979
17.

Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.

van der Merwe L, Cloete R, Revera M, Heradien M, Goosen A, Corfield VA, Brink PA, Moolman-Smook JC.

Hum Genet. 2008 Aug;124(1):57-61. doi: 10.1007/s00439-008-0524-6. Epub 2008 Jun 17.

18.

Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle.

Flashman E, Korkie L, Watkins H, Redwood C, Moolman-Smook JC.

FEBS Lett. 2008 Feb 6;582(3):434-8. doi: 10.1016/j.febslet.2008.01.004. Epub 2008 Jan 15.

19.

Cluster analysis of obsessive-compulsive symptomatology: identifying obsessive-compulsive disorder subtypes.

Lochner C, Hemmings SM, Kinnear CJ, Nel D, Hemmings SM, Seedat S, Moolman-Smook JC, Stein DJ.

Isr J Psychiatry Relat Sci. 2008;45(3):164-76.

20.

Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

Revera M, van der Merwe L, Heradien M, Goosen A, Corfield VA, Brink PA, Moolman-Smook JC.

Cardiovasc Res. 2008 Mar 1;77(4):687-94. Epub 2007 Nov 20.

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