By Professor Diane Fatkin

Journal articles

Martin I; Christensen A; Soka M; Fatkin D, 2014, 'In-vivo characterisation and mutation screening of the cardiac two-pore potassium channel, TWIK-1.', Heart Lung Circ, 23 Suppl 2, pp. e14, http://dx.doi.org/10.1016/j.hlc.2014.07.036

Martin I; Jacoby A; Smith K; Berger J; Trivedi G; Fatkin D, 2014, 'PT350 A novel zebrafish model of dilated cardiomyopathy', Global Heart, 9, pp. e235 - e235, http://dx.doi.org/10.1016/j.gheart.2014.03.2074

Johnson R; Stockhammer K; Soka M; Ohanian M; Lam L; Fatkin D, 2014, 'Truncating Titin mutations: Are they a primary cause of dilated cardiomyopathy or a susceptibility factor?', Heart Lung Circ, 23 Suppl 2, pp. e11 - e12, http://dx.doi.org/10.1016/j.hlc.2014.07.030

Liang B; Soka M; Christensen AH; Olesen MS; Larsen AP; Knop FK; Wang F; Nielsen JB; Andersen MN; Humphreys D; Mann SA; Huttner IG; Vandenberg JI; Svendsen JH; Haunsø S; Preiss T; Seebohm G; Olesen SP; Schmitt N; Fatkin D, 2013, 'Genetic variation in the two-pore domain potassium channel, TASK-1, may contribute to an atrial substrate for arrhythmogenesis.', J Mol Cell Cardiol, http://dx.doi.org/10.1016/j.yjmcc.2013.12.014

Ballouz S; Liu JY; George RA; Bains N; Liu A; Oti M; Gaeta B; Fatkin D; Wouters MA, 2013, 'Gentrepid V2.0: A web server for candidate disease gene prediction', BMC Bioinformatics, 14, pp. 249, http://dx.doi.org/10.1186/1471-2105-14-249

Olesen M; Liang B; Soka M; Larsen AP; Knop FK; Wang F; Nielsen JB; Andersen MN; Humphreys D; Mann SA; Vandenberg JI; Svendsen JH; Haunso S; Preiss T; Seebohm G; Olesen S-P; Schmitt N; Fatkin D, 2013, 'TASK-1 potassium channel mutations in atrial fibrillation', European Heart Journal, 34, pp. 3411 - 3411, http://dx.doi.org/10.1093/eurheartj/eht309.3411

Huttner IG; Trivedi G; Jacoby A; Mann SA; Vandenberg JI; Fatkin D, 2013, 'A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death', Journal of Molecular and Cellular Cardiology, 61, pp. 123 - 132, http://dx.doi.org/10.1016/j.yjmcc.2013.06.005

Christensen AH; Fatkin D, 2013, 'Efficacy of carvedilol in pediatric heart failure', Future Cardiology, 9, pp. 475 - 478, http://dx.doi.org/10.2217/fca.13.36

Costa MW; Guo G; Wolstein O; Vale M; Castro ML; Wang L; Otway R; Riek P; Cochrane N; Furtado M; Semsarian C; Weintraub RG; Yeoh T; Hayward C; Keogh A; Macdonald P; Feneley M; Graham RM; Seidman JG; Seidman CE; Rosenthal N; Fatkin D; Harvey RP, 2013, 'Functional Characterization of a Novel Mutation in NKX2-5 Associated With Congenital Heart Disease and Adult-Onset Cardiomyopathy', Circulation: Cardiovascular Genetics, 6, pp. 238 - 247, http://dx.doi.org/10.1161/CIRCGENETICS.113.000057

Fatkin D; Nikolova-Krstevski V, 2013, 'Atrial Cardiomyopathy An Orphan Disease or Common Disorder?', Circulation: Cardiovascular Genetics, 6, pp. 5 - 6, http://dx.doi.org/10.1161/CIRCGENETICS.111.000033

Ohanian M; Humphreys DT; Anderson E; Preiss T; Fatkin D, 2013, 'A heterozygous variant in the human cardiac miR-133 gene, MIR133A2, alters miRNA duplex processing and strand abundance.', BMC Genetics, 14, http://dx.doi.org/10.1186/1471-2156-14-18

Priori SG; Wilde AA; Horie M; Cho Y; Behr ER; Berul C; Blom N; Brugada J; Chiang CE; Huikuri H; Kannankeril P; Krahn A; Leenhardt A; Moss A; Schwartz PJ; Shimizu W; Tomaselli G; Tracy C; Document Reviewers ; Ackerman M; Belhassen B; Estes NAM; Fatkin D; Kalman J; Kaufman E; Kirchhof P; Schulze-Bahr E; Wolpert C; Vohra J; Refaat M; Etheridge SP; Campbell RM; Martin ET; Quek SC; Heart Rhythm Society ; European Heart Rhythm Association ; Asia Pacific Heart Rhythm Society , 2013, 'Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.', Europace European Pacing Arrhythmias and Cardiac Electrophysiology Journal of the Working Groups on Cardiac Pacing Arrhythmias and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 15, pp. 1389 - 1406, http://dx.doi.org/10.1093/europace/eut272

Martin I; Trivedi G; Jacoby A; Mann S; Vandenberg J; Fatkin D, 2013, 'A Transgenic Zebrafish Model of a Human Cardiac Sodium Channel Mutation Exhibits Bradycardia, Conduction-System Abnormalities and Early Death', Heart, Lung and Circulation, 22, pp. S227 - S227, http://dx.doi.org/10.1016/j.hlc.2013.05.539

Nikolova-Krstevski V; Wagner S; Friedrich O; Fatkin D, 2013, 'Abstract 044: Transient Receptor Potential Channel 6 (TRPC6) Is An Important Mediator Of Mechanical Stretch Responses In The Atrial Endocardial Endothelium.', Circulation Research, 113, http://dx.doi.org/10.1161/res.113.suppl_1.a044

Yu Z; Tan J; McMahon A; Iismaa S; Xiao X; Kesteven S; Reichelt M; Mohl M; Dai Y; Sketchley A; Yang L; Gong H; Fatkin D; Allen D; Head S; Graham R; Feneley M, 2013, 'Studies of a Mouse Model of Cardiac α1A-Adrenergic Receptor Overexpression Provide Evidence For a Critical Role of RhoA/ROCK Signalling in Cardiac Contractility', Heart, Lung and Circulation, 22, pp. S59 - S59, http://dx.doi.org/10.1016/j.hlc.2013.05.143

Nikolova-Krstevski V; Wagner S; Bowman I; Friedrich O; Fatkin D, 2013, 'TRPC6 (Canonical Transient Receptor Potential Ca2+ Channel 6) is An Important Mediator of Mechanical Stretch Responses in the Atrial Endocardial Endothelium', Heart, Lung and Circulation, 22, pp. S5 - S6, http://dx.doi.org/10.1016/j.hlc.2013.05.011

Zhang BT; Whitehead NP; Gervasio OL; Reardon TF; Vale M; Fatkin D; Dietrich A; Yeung EW; Allen DG, 2012, 'Pathways of Ca2+ entry and cytoskeletal damage following eccentric contractions in mouse skeletal muscle', Journal of Applied Physiology, 112, pp. 2077 - 2086, http://dx.doi.org/10.1152/japplphysiol.00770.2011

Ingles J; Zodgekar PR; Yeates L; Macciocca I; McGaughran J; Semsarian C; Fatkin D, 2012, 'Erratum to "Guidelines for Genetic Testing of Inherited Cardiac Disorders" [Heart Lung Circ. 20 (2011) 681-687]', Heart Lung and Circulation, 21, pp. 57, http://dx.doi.org/10.1016/j.hlc.2011.10.007

Ohanian M; Otway R; Fatkin D, 2012, 'Heuristic methods for finding pathogenic variants in gene coding sequences.', Journal of the American Heart Association, 1, pp. e002642, http://dx.doi.org/10.1161/JAHA.112.002642

Humphreys DT; Hynes CJ; Patel HR; Wei G; Cannon LE; Fatkin D; Suter CM; Clancy JL; Preiss T, 2012, 'Complexity of murine cardiomyocyte miRNA biogenesis, sequence variant expression and function', PLoS One, 7, pp. e30933, http://dx.doi.org/10.1371/journal.pone.0030933

Fatkin D, 2012, 'Familial dilated cardiomyopathy: Current challenges and future directions', Global Cardiology Science and Practice, 2012, pp. 8 - 8, http://dx.doi.org/10.5339/gcsp.2012.8

Nikolova-Krstevski V; Leimena C; Fatkin D, 2012, 'Mechanical Stretch Alters the Morphology and Function of Atrial Endocardial Endothelial Cells', Heart, Lung and Circulation, 21, pp. S61 - S61, http://dx.doi.org/10.1016/j.hlc.2012.05.157

Vandenberg JI; Mann SA; Castro ML; Ohanian M; Guo G; Zodgekar PR; Sheu A; Stockhammer K; Fatkin D; Subbiah RN, 2012, 'R222Q SCN5A Mutation Is Associated With Reversible Ventricular Ectopy and Dilated Cardiomyopathy', Journal of the American College of Cardiology, 60, pp. 1566 - 1573, http://dx.doi.org/10.1016/j.jacc.2012.05.050

Vidal C; Bermeo S; Fatkin D; Duque G, 2012, 'Role of the nuclear envelope in the pathogenesis of age-related bone loss and osteoporosis.', Bonekey Rep, 1, pp. 62, http://dx.doi.org/10.1038/bonekey.2012.62

Qian L; Wythe JD; Liu J; Cartry J; Vogler G; Mohapatra B; Otway RT; Huang Y; King IN; Maillet M; Zheng Y; Crawley T; Taghli-Lamallem O; Semsarian C; Dunwoodie S; Winlaw D; Harvey RP; Fatkin D; Towbin JA; Molkentin JD; Srivastava D; Ocorr K; Bruneau BG; Bodmer R, 2011, 'Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species', The Journal of Experimental Medicine, 208, pp. i20 - i20, http://dx.doi.org/10.1084/jem2087oia20

Fatkin D; Yeoh TB; Hayward CS; Benson V; Sheu A; Richmond Z; Feneley MP; Keogh AM; Macdonald PS, 2011, 'A Randomised, Placebo-controlled Trial of Carvedilol in Early Familial Dilated Cardiomyopathy', Heart Lung and Circulation, 20, pp. 566 - 573

Cannon L; Marciniec T; Mearns B; Vale M; Nikolova-Krstevski V; Kesteven S; Raynor S; Feneley M; Graham R; Fatkin D, 2011, 'A Regulatable Model of Mutant α-Myosin Heavy Chain Overexpression to Study the Structural and Functional Consequences of Hypertrophy Regression', Heart, Lung and Circulation, 20, pp. S1 - S1, http://dx.doi.org/10.1016/j.hlc.2011.05.004

Duque G; Li W; Yeo LS; Vidal C; Fatkin D, 2011, 'Attenuated anabolic response to exercise in lamin A/C haploinsufficient mice', Bone, 49, pp. 412 - 418

Fatkin D; li W; Yeo L; Vidal C; McCorquodale T; Herrmann M; Duque G, 2011, 'Decreased bone formation and osteopenia in lamin a/c-deficient mice', PLoS One, 6, pp. e19313, http://dx.doi.org/10.1371/journal.pone.0019313

Fatkin D; Yeoh TB; Hayward CS; Benson V; Sheu A; Richmond Z; Feneley MP; Keogh AM; Macdonald PS, 2011, 'Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy', Circulation: Cardiovascular Genetics, 4, pp. 342 - 348

Ingles J; Zodgekar PR; Yeates L; Macciocca I; Semsarian C; Fatkin D, 2011, 'Guidelines for Genetic Testing of Inherited Cardiac Disorders', Heart Lung and Circulation, 20, pp. 681 - 687, http://dx.doi.org/10.1016/j.hlc.2011.07.013

Fatkin D, 2011, 'Guidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy', Heart Lung and Circulation, 20, pp. 691 - 693, http://dx.doi.org/10.1016/j.hlc.2011.07.008

Moradi marjaneh M; Kirk EP; Posch MG; Ozcelik C; Berger F; Hetzer R; Otway R; Butler TL; Blue GM; Griffiths L; Fatkin D; Martinson JJ; Winlaw D; Feneley MP; Harvey RP, 2011, 'Investigation of Association between PFO Complicated by Cryptogenic Stroke and a Common Variant of the Cardiac Transcription Factor GATA4', PLoS One, 6, pp. e20711, http://dx.doi.org/10.1371/journal.pone.0020711

Tong J; Vidal C; Yeo LS; Fatkin D; Duque G, 2011, 'Lamin A/C deficiency is associated with fat infiltration of muscle and bone', Mechanisms of Ageing and Development, 132, pp. 552 - 559, http://dx.doi.org/10.1016/j.mad.2011.09.004

Floro KL; Artap S; Preis JI; Fatkin D; Chapman G; Furtado MB; Harvey RP; Hamada H; Sparrow DB; Dunwoodie SL, 2011, 'Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis', Human Molecular Genetics, 20, pp. 1097 - 1110, http://dx.doi.org/10.1093/hmg/ddq554

Nikolova V; Leimena C; Xiao X; Kesteven SH; Tan J; Yeo LS; Yu ZY; Zhang Q; Carlton A; Head SI; Shanahan C; Feneley MP; Fatkin D, 2011, 'Nesprin-1 and actin contribute to nuclear and cytoskeletal defects in lamin A/C-deficient cardiomyopathy', Journal of Molecular and Cellular Cardiology, 50, pp. 479 - 486, http://dx.doi.org/10.1016/j.yjmcc.2010.12.001

Fatkin D; Mohl M; Iismaa SE; Xiao XH; Friedrich O; Wagner ; Nikolova-Krstevski ; Wu J; Yu ZY; Feneley MP; Allen ; Graham RM, 2011, 'Regulation of murine cardiac contractility by activation of alpha(1A)-adrenergic receptor-operated Ca(2+) entry', Cardiovascular Research, 91, pp. 310 - 319

Harvey RP; Dunwoodie SL; Fatkin D; Qian L; Wythe JD; Liu J; Liu J; Vogler G; Mohapatra B; Otway R; Huang Y; King IN; Maillet M; Zheng Y; Crawley T; Taghli-Lamallem O; Semsarian C; Winlaw D, 2011, 'Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species', Journal of Cell Biology, 193, pp. 1181 - 1196, http://dx.doi.org/10.1083/jcb.201006114

Granados-riveron J; Ghosh TK; Pope M; Bu''Lock F; Thornborough C; Eason J; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour J; Brook JD, 2010, 'Alpha-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects', Human Molecular Genetics, 19, pp. 4007 - 4016, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20656787

Chandar S; Yeo LS; Leimena C; Tan J; Xiao X; Nikolova V; Yasuoka Y; Gardiner-Garden M; Wu J; Kesteven SH; Karlsdotter ; Natarajan S; Carlton A; Rainer SP; Feneley MP; Fatkin D, 2010, 'Effects of mechanical stress and carvedilol in lamin A/C-deficient dilated cardiomyopathy', Circulation Research, 106, pp. 573 - 582, http://dx.doi.org/10.1161/CIRCRESAHA.109.204388

Fatkin D; Otway ; Richmond Z, 2010, 'Genetics of dilated cardiomyopathy', Heart Failure Clinics, 6, pp. 129 - 140, http://dx.doi.org/10.1016/j.hfc.2009.11.003

Yeoh T; Hayward CS; Benson V; Macdonald PS; Feneley MP; Keogh A; Fatkin D, 2009, 'Carvedilol-Treatment in Asymptomatic Early Familial Dilated Cardiomyopathy: A Randomised Double-Blind Placebo Controlled Trial', Heart, Lung and Circulation, 18, pp. S172 - S172, http://dx.doi.org/10.1016/j.hlc.2009.05.390

Teber ET; Liu JY; Ballouz S; Fatkin D; Wouters MA, 2009, 'Comparison of automated candidate gene prediction systems using genes implicated in type 2 diabetes by genome-wide association studies', BMC bioinformatics, 10, pp. 1 - 10, http://dx.doi.org/10.1186/1471-2105-10-S1-S69

Yeoh T; Hayward CS; Benson V; Macdonald PS; Feneley MP; Keogh A; Fatkin D, 2009, 'Echocardiographic Assessment of Asymptomatic Early Dilated Cardiomyopathy', Heart, Lung and Circulation, 18, pp. S175 - S175, http://dx.doi.org/10.1016/j.hlc.2009.05.397

Carballo S; Robinson P; Otway R; Fatkin D; Jongbloed J; De Jonge N; Blair E; Van Tintelen J; Redwood C; Watkins H, 2009, 'Identification and functional characterization of cardiac troponin 1 as a novel disease gene in autosomal dominant dilated cardiomyopathy', Circulation Research, 105, pp. 375 - 382, http://dx.doi.org/10.1161/CIRCRESAHA.109.196055

Nikolova-Krstevski V; Leimena C; Carlton A; Stewart CL; Shanahan C; Fatkin D, 2009, 'Nesprin/actin cytoskeletal network is a critical determinant of cardiac function in lamin A/C deficient mice', Heart, Lung and Circulation, 18, pp. S252 - S252, http://dx.doi.org/10.1016/j.hlc.2009.05.622

Hayward CS; Yeoh T; Benson VL; Keogh AM; Macdonald PS; Feneley MP; Fatkin D, 2009, 'Non-invasive Assessment of Preload Recruitable Stroke Work Relations in Preclinical Cardiomyopathy', Heart, Lung and Circulation, 18, pp. S77 - S78, http://dx.doi.org/10.1016/j.hlc.2009.05.173

Cannon L; Marciniec T; Mearns B; Graham RM; Fatkin D, 2008, 'Abstract 3435: Left Ventricular Hypertrophy is Resistant to Inhibition of Expression of the R403Q Alpha-Myosin Heavy Chain Cardiac Hypertrophy-Inducing Mutant Protein', Circulation, 118, http://dx.doi.org/10.1161/circ.118.suppl_18.s_423-c

Sparrow DB; Guillen-Navarro E; Fatkin D; Dunwoodie SL, 2008, 'Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis', Human Molecular Genetics, 17, pp. 3761 - 3766

Palmer BM; Wang YT; Teekakirikul P; Hinson T; Fatkin D; Strouse S; VanBuren P; Seidman C; Maughan DW, 2008, 'Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex', American Journal of Physiology - Heart and Circulatory Physiology, 294, pp. 1939 - 1947

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