By Professor Diane Fatkin

Journal articles

Furtado MB; Wilmanns JC; Chandran A; Perera J; Hon O; Biben C; Willow TJ; Nim HT; Kaur G; Simonds S; Wu Q; Willians D; Salimova E; Plachta N; Denegre JM; Murray SA; Fatkin D; Cowley M; Pearson JT; Kaye D; Ramialison M; Harvey RP; Rosenthal NA; Costa MW, 2017, 'Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling', JCI Insight, 2, http://dx.doi.org/10.1172/jci.insight.88271

Singh L; Fatkin D; Duque G, 2017, 'Lamin A(+/-) mice as a new animal model to study osteosarcopenia', AUSTRALASIAN JOURNAL ON AGEING, 36, pp. 25 - 26, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000397496400033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Fatkin D; Huttner IG; Martin I, 2017, 'Titin-truncating mutations in dilated cardiomyopathy: the long and short of it', Current Opinion in Cardiology, http://dx.doi.org/10.1097/HCO.0000000000000382

Wang LW; Huttner IG; Santiago CF; Kesteven SH; Yu ZY; Feneley MP; Fatkin D; Martin I, 2017, 'Standardized echocardiographic assessment of cardiac function in normal adult zebrafish and heart disease models', DMM Disease Models and Mechanisms, 10, pp. 63 - 76, http://dx.doi.org/10.1242/dmm.026989

Huttner I; Wang L; Santiago C; Horvat C; Johnson R; Cheng D; Braet F; Hesselson D; Feneley M; Fatkin D, 2017, 'A Zebrafish Model of a Human Titin-truncating Mutation Exhibits Spontaneous, Age-dependent and Load-exacerbated Dilated Cardiomyopathy', Heart, Lung and Circulation, 26, pp. S43 - S43, http://dx.doi.org/10.1016/j.hlc.2017.06.002

Iyngkaran P; Thomas MC; Johnson R; French J; Ilton M; McDonald P; Hare DL; Fatkin D, 2016, 'Contextualizing genetics for regional heart failure care', Current Cardiology Reviews, 12, pp. 231 - 242, http://dx.doi.org/10.2174/1573403X12666160606123103

Christensen AH; Chatelain FC; Huttner IG; Olesen MS; Soka M; Feliciangeli S; Horvat C; Santiago CF; Vandenberg JI; Schmitt N; Olesen SP; Lesage F; Fatkin D; Martin I, 2016, 'The two-pore domain potassium channel, TWIK-1, has a role in the regulation of heart rate and atrial size', Journal of Molecular and Cellular Cardiology, 97, pp. 24 - 35, http://dx.doi.org/10.1016/j.yjmcc.2016.04.006

Wang L; Huttner I; Santiago C; Yu Z; Kesteven S; Feneley M; Fatkin D, 2016, 'Development and Validation of a Novel Technique for High Frequency Echocardiography in Zebrafish Models of Health and Disease Provide Key Insights into Cardiac Physiology and Applications for Studying Heart Failure', Heart, Lung and Circulation, 25, pp. S106 - S106, http://dx.doi.org/10.1016/j.hlc.2016.06.251

Fatkin D; Lam L; Herman DS; Benson CC; Felkin LE; Barton PJ; Walsh R; Candan S; Ware JS; Roberts AM; Chung WK; Smoot L; Bornaun H; keogh A; Macdonald P; Hayward CS; Seidman JG; Roberts AE; Cook SA; Seidman CE, 2016, 'Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young', Progress in Pediatric Cardiology

Cannon L; Yu ZY; Marciniec T; Waardenberg AJ; Iismaa SE; Nikolova-Krstevski V; Neist E; Ohanian M; Qiu MR; Rainer S; Harvey RP; Feneley MP; Graham RM; Fatkin D, 2015, 'Irreversible triggers for hypertrophic cardiomyopathy are established in the early postnatal period', Journal of the American College of Cardiology, 65, pp. 560 - 569, http://dx.doi.org/10.1016/j.jacc.2014.10.069

Roberts AM; Ware JS; Herman DS; Schafer S; Baksi J; Bick AG; Buchan RJ; Walsh R; John S; Wilkinson S; Mazzarotto F; Felkin LE; Gong S; Macarthur JAL; Cunningham F; Flannick J; Gabriel SB; Altshuler DM; MacDonald PS; Heinig M; Keogh AM; Hayward CS; Banner NR; Pennell DJ; O'Regan DP; San TR; De Marvao A; Dawes TJW; Gulati A; Birks EJ; Yacoub MH; Radke M; Gotthardt M; Wilson JG; O'Donnell CJ; Prasad SK; Barton PJR; Fatkin D; Hubner N; Seidman JG; Seidman CE; Cook SA, 2015, 'Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease', Science Translational Medicine, 7, http://dx.doi.org/10.1126/scitranslmed.3010134

Wang L; Kesteven S; Imtiaz M; Martin I; Feneley M; Fatkin D, 2015, 'Navigating uncharted waters: novel echocardiography techniques for non-invasive in-vivo assessment of contractile function in adult zebrafish and its potential applications for research in cardiovascular genetics', Heart, Lung and Circulation, 24, pp. S403 - S403, http://dx.doi.org/10.1016/j.hlc.2015.06.676

Wang LW; Grygiel JJ; O'Neill JH; Fatkin D; Feneley MP, 2015, 'Snowflakes in the heart: an ultrasonic marker of severe hypercoagulability', The Lancet, 385, pp. 302 - 302, http://dx.doi.org/10.1016/S0140-6736(14)62221-2

Nikolova-Krstevski V; Wagner S; Cvetkovska J; Martinac B; Friedrich O; Fatkin D, 2015, 'TRPC6 (transient receptor potential Ca2+ channel 6) activity in the atrial endocardium exposed to increased mechanical stress is determined by the duration of the mechanical stretch stimuli', Heart, Lung and Circulation, 24, pp. S183 - S183, http://dx.doi.org/10.1016/j.hlc.2015.06.169

Yu ZY; Tan JC; McMahon AC; Iismaa SE; Xiao H; Kesteven SH; Reichelt ME; Mohl MC; Smith NJ; Fatkin D; Allen D; Head SI; Graham RM; Feneley MP, 2014, 'RhoA/ROCK signaling and pleiotropic α1A-adrenergic receptor regulation of cardiac contractility', PLoS ONE, 9, pp. e99024, http://dx.doi.org/10.1371/journal.pone.0099024

Nikolova-Krstevski V; Nikolova-Krstevski V; Jacoby A; Martin I; Trivedi G; Dobrzynski H; Fatkin D, 2014, 'Novel role for the large conductance Ca2+-activated K+ channel (BKCa) as a determinant of cardiac function', Global Heart, 9, pp. e5, http://dx.doi.org/10.1016/j.gheart.2014.03.1238

Fatkin D; Seidman CE; Seidman JG, 2014, 'Genetics and disease of ventricular muscle.', Cold Spring Harbor perspectives in medicine, 4, http://dx.doi.org/10.1101/cshperspect.a021063

Ballouz S; Liu JY; Oti M; Gaeta B; Fatkin D; Bahlo M; Wouters MA, 2014, 'Candidate disease gene prediction using : application to a genome-wide association study on coronary artery disease', Molecular Genetics & Genomic Medicine, 2, pp. 44 - 57, http://dx.doi.org/10.1002/mgg3.40

Martin I; Jacoby A; Smith K; Berger J; Trivedi G; Fatkin D, 2014, 'Identifying the genetic cause of DCM in a zebrafish mutant.', Heart Lung Circ, 23 Suppl 2, pp. e2, http://dx.doi.org/10.1016/j.hlc.2014.07.004

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, 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

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