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Johanna Moolman-Smook

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South Africa

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Mautin A Kappo; Jean M McKenzie; Johanna C Moolman-Smook; Takalani Mulaudzi; Victor Muleya; John O Poole; Eiso Ab; R Andrew Atkinson; Moredreck Chibi; Andrew Faro; Faqeer Hassem; D Jasper G Rees; David J R Pugh
Solution structure of RING finger-like domain of retinoblastoma-binding protein-6 (RBBP6) suggests it functions as a U-box.
Paal Skytt Andersen; Perry Mark Elliott; Paula Louise Hedley; William John McKenna; Johanna C Moolman-Smook; Stephen P Page; Petros Syrris; Michael Christiansen
A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.
Nadia Carstens; Althea Goosen; Marshall Heradien; Miriam Revera; Lize van der Merwe; Paul A Brink; Johanna C Moolman-Smook
Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure.

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All Publications

2012: Mautin A Kappo; Jean M McKenzie; Johanna C Moolman-Smook; Takalani Mulaudzi; Victor Muleya; John O Poole; Eiso Ab; R Andrew Atkinson; Moredreck Chibi; Andrew Faro; Faqeer Hassem; D Jasper G Rees; David J R Pugh
Solution structure of RING finger-like domain of retinoblastoma-binding protein-6 (RBBP6) suggests it functions as a U-box.
The Journal of biological chemistry 2012;287(10):7146-58.
2012: Paal Skytt Andersen; Perry Mark Elliott; Paula Louise Hedley; William John McKenna; Johanna C Moolman-Smook; Stephen P Page; Petros Syrris; Michael Christiansen
A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.
Biochemistry research international 2012;2012():685108.
2011: Nadia Carstens; Althea Goosen; Marshall Heradien; Miriam Revera; Lize van der Merwe; Paul A Brink; Johanna C Moolman-Smook
Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure.
Journal of the renin-angiotensin-aldosterone system : JRAAS 2011;12(3):274-80.
2011: Leigh Boardman; Lize van der Merwe; Christine Lochner; Craig J Kinnear; Soraya Seedat; Dan Stein; Johanna C Moolman-Smook; Sian M J Hemmings
Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.
Comprehensive psychiatry 2011;52(2):181-7.
2011: Paula L Hedley; Morten Jensen; Johanna C Moolman-Smook; Ole Haundrup; Frederik H Aidt; Paal S Andersen; Henning Bundgaard; Michael Christiansen
The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.
Journal of negative results in biomedicine 2011;10():12.
2011: Gerrida M Uys; Amsha Ramburan; Benjamin Loos; Craig J Kinnear; Lundi J Korkie; Jomien Mouton; Johann Riedemann; Johanna C Moolman-Smook
Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C.
BMC cell biology 2011;12():18.
2009: Hilga katerberg; Christine Lochner; Danielle C Cath; Peter de Jonge; Zoltán Bochdanovits; Johanna C Moolman-Smook; Sîan M J Hemmings; Paul D Carey; Dan Stein; David Sondervan; Johan A den Boer; Anton J L M van Balkom; Annemiek Polman; Peter Heutink
The role of the brain-derived neurotrophic factor (BDNF) val66met variant in the phenotypic expression of obsessive-compulsive disorder (OCD).
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(8):1050-62.
2009: Marshall Heradien; Miriam Revera; Lize van der Merwe; Althea Goosen; Valerie A Corfield; Paul A Brink; Bongani M Mayosi; Johanna C Moolman-Smook
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.
Heart rhythm : the official journal of the Heart Rhythm Society 2009;6(11 Suppl):S18-24.
2009: David A Watkins; Neil Hendricks; Gasnat Shaboodien; Mzwandile Mbele; Michelle Parker; Brian Z Vezi; Azeem Latib; Ashley Chin; Francesca Little; Motasim Badri; Johanna C Moolman-Smook; Andrzej Okreglicki; Bongani M Mayosi
Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.
Heart rhythm : the official journal of the Heart Rhythm Society 2009;6(11 Suppl):S10-7.
2009: Paul A Brink; Johanna C Moolman-Smook; Valerie A Corfield
Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch.
Cardiovascular journal of Africa 2009;20(1):57-63.
2008: Moredreck Chibi; Mervin Meyer; Amanda Skepu; D Jasper G Rees; Johanna C Moolman-Smook; David J R Pugh
RBBP6 interacts with multifunctional protein YB-1 through its RING finger domain, leading to ubiquitination and proteosomal degradation of YB-1.
Journal of molecular biology 2008;384(4):908-16.
2008: Lize van der Merwe; Ruben Cloete; Miriam Revera; Marshall Heradien; Althea Goosen; Valerie A Corfield; Paul A Brink; Johanna C Moolman-Smook
Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy.
Human genetics 2008;124(1):57-61.
2008: Miriam Revera; Lize van der Merwe; Marshall Heradien; Althea Goosen; Valerie A Corfield; Paul A Brink; Johanna C Moolman-Smook
Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.
Cardiovascular research 2008;77(4):687-94.
2008: Emily Flashman; L Korkie; Hugh Watkins; Charles Redwood; Johanna C Moolman-Smook
Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle.
FEBS letters 2008;582(3):434-8.
2008: Christine Lochner; Sian M J Hemmings; Craig J Kinnear; Daan Nel; Sian M J Hemmings; Soraya Seedat; Johanna C Moolman-Smook; Dan Stein
Cluster analysis of obsessive-compulsive symptomatology: identifying obsessive-compulsive disorder subtypes.
The Israel journal of psychiatry and related sciences 2008;45(3):164-76.
2008: Sîan M J Hemmings; Craig J Kinnear; Lize van der Merwe; Christine Lochner; Valerie A Corfield; Johanna C Moolman-Smook; Dan Stein
Investigating the role of the brain-derived neurotrophic factor (BDNF) val66met variant in obsessive-compulsive disorder (OCD).
The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2008;9(2):126-34.
2007: Marshall Heradien; Althea Goosen; Johanna C Moolman-Smook; Paul A Brink
Race and gender representation of hypertrophic cardiomyopathy or long QT syndrome cases in a South African research setting.
Cardiovascular journal of Africa 2007;18(5):312-5.
2007: Miriam Revera; Lize van der Merwe; Marshall Heradien; Althea Goosen; Valerie A Corfield; Paul A Brink; Johanna C Moolman-Smook
Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.
Cardiovascular journal of Africa 2007;18(3):146-53.
2007: Christine Lochner; Sian M J Hemmings; Soraya Seedat; Craig J Kinnear; Renata Schoeman; Kristina Annerbrink; Marie Olsson; Elias Eriksson; Johanna C Moolman-Smook; Christer Allgulander; Dan Stein
Genetics and personality traits in patients with social anxiety disorder: a case-control study in South Africa.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2007;17(5):321-7.
2007: Christine Lochner; Soraya Seedat; Sian M J Hemmings; Johanna C Moolman-Smook; Martin Kidd; Dan Stein
Investigating the possible effects of trauma experiences and 5-HTT on the dissociative experiences of patients with OCD using path analysis and multiple regression.
Neuropsychobiology 2007;56(1):6-13.
2006: Sian M J Hemmings; Craig J Kinnear; Christine Lochner; Soraya Seedat; Valerie A Corfield; Johanna C Moolman-Smook; Dan Stein
Genetic correlates in trichotillomania--A case-control association study in the South African Caucasian population.
The Israel journal of psychiatry and related sciences 2006;43(2):93-101.
2005: Pedro Fernandez; Johanna C Moolman-Smook; Paul Brink; Valerie A Corfield
A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3.
Human genetics 2005;118(1):133-7.
2005: Christine Lochner; Craig J Kinnear; Sian M J Hemmings; Cathlene Seller; Dana J H Niehaus; James A Knowles; Willie Daniels; Johanna C Moolman-Smook; Soraya Seedat; Dan Stein
Hoarding in obsessive-compulsive disorder: clinical and genetic correlates.
The Journal of clinical psychiatry 2005;66(9):1155-60.
2005: Christine Lochner; Sian M J Hemmings; Craig J Kinnear; Dana J H Niehaus; Daniel G Nel; Valerie A Corfield; Johanna C Moolman-Smook; Soraya Seedat; Dan Stein
Cluster analysis of obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder: clinical and genetic correlates.
Comprehensive psychiatry 2005;46(1):14-9.
2004: Christine Lochner; Sian M J Hemmings; Craig J Kinnear; Johanna C Moolman-Smook; Valerie A Corfield; James A Knowles; Dana J H Niehaus; Dan Stein
Corrigendum to "gender in obsessive-compulsive disorder: clinical and genetic findings" [Eur. Neuropsychopharmacol. 14 (2004) 105-113].
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2004;14(5):437-45.
2004: Sian M J Hemmings; Craig J Kinnear; Christine Lochner; Dana J H Niehaus; James A Knowles; Johanna C Moolman-Smook; Valerie A Corfield; Dan Stein
Early- versus late-onset obsessive-compulsive disorder: investigating genetic and clinical correlates.
Psychiatry research 2004;128(2):175-82.
2004: Christine Lochner; Soraya Seedat; Sian M J Hemmings; Craig J Kinnear; Valerie A Corfield; Dana J H Niehaus; Johanna C Moolman-Smook; Dan Stein
Dissociative experiences in obsessive-compulsive disorder and trichotillomania: clinical and genetic findings.
Comprehensive psychiatry 2004;45(5):384-91.
2004: Emily Flashman; Charles Redwood; Johanna C Moolman-Smook; Hugh Watkins
Cardiac myosin binding protein C: its role in physiology and disease.
Circulation research 2004;94(10):1279-89.
2004: Liezl Koen; Craig J Kinnear; Valerie A Corfield; Robin Emsley; Esme Renette Jordaan; Natasha Keyter; Johanna C Moolman-Smook; Dan Stein; Dana J H Niehaus
Violence in male patients with schizophrenia: risk markers in a South African population.
The Australian and New Zealand journal of psychiatry 2004;38(4):254-9.
2004: Christine Lochner; Sian M J Hemmings; Craig J Kinnear; Johanna C Moolman-Smook; Valerie A Corfield; James A Knowles; Dana J H Niehaus; Dan Stein
Gender in obsessive-compulsive disorder: clinical and genetic findings.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2004;14(2):105-13.
2003: Johanna C Moolman-Smook; Bongani M Mayosi; Paul A Brink; Valerie A Corfield
Molecular genetics of cardiomyopathy: changing times, shifting paradigms.
Cardiovascular journal of South Africa : official journal for Southern Africa Cardiac Society [and] South African Society of Cardiac Practitioners 2003;14(3):145-55.
2003: Sian M J Hemmings; Craig J Kinnear; Dana J H Niehaus; Johanna C Moolman-Smook; Christine Lochner; James A Knowles; Valerie A Corfield; Dan Stein
Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2003;13(2):93-8.
2002: Johanna C Moolman-Smook; Emily Flashman; Willem de Lange; Zhili Li; Valerie A Corfield; Charles Redwood; Hugh Watkins
Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.
Circulation research 2002;91(8):704-11.
2002: Edward Blair; Charles Redwood; Marisa de Jesus Oliveira; Johanna C Moolman-Smook; Paul Brink; Valerie A Corfield; Ingegerd Ostman-Smith; Hugh Watkins
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Circulation research 2002;90(3):263-9.
2001: Paal Skytt Andersen; Ole Havndrup; Henning Bundgaard; Johanna C Moolman-Smook; Lars Larsen; Jens Mogensen; Paul A Brink; Anders D Børglum; Valerie A Corfield; Keld Kjeldsen; Jens Vuust; Michael Christiansen
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.
Journal of medical genetics 2001;38(12):E43.
2001: Craig J Kinnear; Dana J H Niehaus; Soraya Seedat; Johanna C Moolman-Smook; Valerie A Corfield; G Malherbe; A Potgieter; C Lombard; Dan Stein
Obsessive-compulsive disorder and a novel polymorphism adjacent to the oestrogen response element (ERE 6) upstream from the COMT gene.
Psychiatric genetics 2001;11(2):85-7.
2001: Dana J H Niehaus; Craig J Kinnear; Valerie A Corfield; Pieter L du Toit; Jeanine van Kradenburg; Johanna C Moolman-Smook; Jakobus weyers; A Potgieter; Soraya Seedat; Robin Emsley; James A Knowles; Paul A Brink; Dan Stein
Association between a catechol-o-methyltransferase polymorphism and obsessive-compulsive disorder in the Afrikaner population.
Journal of affective disorders 2001;65(1):61-5.
2000: Johanna C Moolman-Smook; Willem de Lange; Valerie A Corfield; Paul Brink
Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.
Journal of medical genetics 2000;37(12):951-6.
1999: Johanna C Moolman-Smook; Willem de Lange; E C Bruwer; Paul A Brink; Valerie A Corfield
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
American journal of human genetics 1999;65(5):1308-20.
1999: Charles Redwood; Johanna C Moolman-Smook; Hugh Watkins
Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy.
Cardiovascular research 1999;44(1):20-36.
1998: Johanna C Moolman-Smook; Bongani M Mayosi; P Brink; Valerie A Corfield
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
Journal of medical genetics 1998;35(3):253-4.