By Professor Diane Fatkin

Journal articles

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

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

Otway R; Vandenberg JI; Fatkin D, 2007, 'Atrial Fibrillation-A New Cardiac Channelopathy', Heart Lung and Circulation, 16, pp. 356 - 360, http://dx.doi.org/10.1016/j.hlc.2007.07.003

Fatkin D, 2007, 'Guidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy', Heart Lung and Circulation, 16, pp. 19 - 21, http://dx.doi.org/10.1016/j.hlc.2006.10.018

Fatkin D; Otway R; Vandenberg JI, 2007, 'Genes and atrial fibrillation - A new look at an old problem', Circulation, 116, pp. 782 - 792

Chandar S; Natarajan S; Michalicek J; Kesteven S; Wu J; Ahmed I; Fatkin D, 2007, 'Heart Rate Variability as a Prognostic Indicator in DCM Due to Lamin A/C Deficiency', Heart, Lung and Circulation, 16, pp. S20 - S20, http://dx.doi.org/10.1016/j.hlc.2007.06.053

Kirk EP; Sunde M; Costa M; Rankin S; Wolstein O; Castro ML; Butler T; Hyun C; Guo G; Otway R; Mackay J; Waddell L; Cole A; Hayward CS; Keogh AM; Macdonald PS; Griffiths L; Fatkin D; Sholler G; Zorn AM; Feneley MP; Winlaw D; Harvey RP; Butler , 2007, 'Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiornyopathy', American Journal of Human Genetics, 81, pp. 280 - 291

Otway R; Vandenberg JI; Guo G; Varghese A; Castro ML; Liu JJ; Zhao J; Bursill JA; Wyse KR; Crotty H; Baddeley O; Walker BD; Kuchar D; Thorburn CW; Fatkin D, 2007, 'Stretch-sensitive KCNQ1 mutation - A link between genetic and environmental factors in the pathogenesis of atrial fibrillation?', Journal of the American College of Cardiology, 49, pp. 578 - 586

Liu JY; Feng LL; Bryson-Richardson RJ; Fatkin D; Wouters MA; George R, 2006, 'Analysis of protein sequence and interaction data for candidate disease gene prediction', Nucleic Acids Research, 34, pp. 130 - 131

Sparrow DB; Chapman G; Wouters MA; Whittock N; Ellard S; Fatkin D; Turnpenny PD; Kusumi K; Sillence D; Dunwoodie SL, 2006, 'Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype', American Journal of Human Genetics, 78, pp. 25 - 34

Fatkin D; Wilson KL; Gruenbaum Y; Ellis J; Julien JP; Shumaker D; Goldman A; Morris GE; Gerace L; Wilkins A, 2005, 'Discussion', Novartis Foundation Symposium, 264, pp. 58 - 62

Li J; Prall O; Heffernan C; Fatkin D; Feneley M; Graham R; Harvey R, 2005, 'Cardiomyocyte-lineage precursor cells in the adult heart', MECHANISMS OF DEVELOPMENT, 122, pp. S136 - S136, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000207524100510&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Wolstein O; Ahmed IM; Stennard FA; Fatkin D; Harvey RP, 2005, 'Role of cardiac transcription factor Tbx20 in adult heart function and disease', MECHANISMS OF DEVELOPMENT, 122, pp. S60 - S60, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000207524100220&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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