By Professor Diane Fatkin

Journal articles

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

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 GH; Cannon L; 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

Fatkin D; Yeoh T; 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.', Circ Cardiovasc Genet, 4, pp. 342 - 348, http://dx.doi.org/10.1161/CIRCGENETICS.110.958918

Mohl MC; Iismaa SE; Xiao X-H; Friedrich O; Wagner S; Nikolova-Krstevski V; Wu J; Yu Z-Y; Feneley M; Fatkin D; Allen DG; Graham RM, 2011, 'Regulation of murine cardiac contractility by activation of α(1A)-adrenergic receptor-operated Ca(2+) entry.', Cardiovasc Res, 91, pp. 310 - 319, http://dx.doi.org/10.1093/cvr/cvr081

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

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.', J Cell Biol, 193, pp. 1181 - 1196, http://dx.doi.org/10.1083/jcb.201006114

Li W; Yeo LS; Vidal C; McCorquodale T; Herrmann M; Fatkin D; 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

Lopes Floro K; Artap ST; 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.', Hum Mol Genet, 20, pp. 1097 - 1110, http://dx.doi.org/10.1093/hmg/ddq554

Yeoh T; Hayward C; Benson V; Sheu A; Richmond Z; Feneley MP; Keogh AM; Macdonald P; Fatkin D, 2011, 'A randomised, placebo-controlled trial of carvedilol in early familial dilated cardiomyopathy.', Heart Lung Circ, 20, pp. 566 - 573, http://dx.doi.org/10.1016/j.hlc.2011.06.004

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, http://dx.doi.org/10.1016/j.bone.2011.04.023

Ingles J; Zodgekar PR; Yeates L; Macciocca I; Semsarian C; Fatkin D; CSANZ Cardiac Genetic Diseases Council Writing Group , 2011, 'Guidelines for genetic testing of inherited cardiac disorders.', Heart Lung Circ, 20, pp. 681 - 687, http://dx.doi.org/10.1016/j.hlc.2011.07.013

Fatkin D; members of the CSANZ Cardiac Genetic Diseases Council Writing Group , 2011, 'Guidelines for the diagnosis and management of familial dilated cardiomyopathy.', Heart Lung Circ, 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 LR; Fatkin D; Martinson JJ; Winlaw DS; 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; Li W; Vidal C; Yeo LS; Fatkin D; Duque G, 2011, 'Lamin A/C deficiency is associated with fat infiltration of muscle and bone.', Mech Ageing Dev, 132, pp. 552 - 559, http://dx.doi.org/10.1016/j.mad.2011.09.004

Nikolova-Krstevski V; Leimena C; Xiao X-H; Kesteven S; Tan JC; Yeo LS; Yu Z-Y; Zhang Q; Carlton A; Head S; Shanahan C; Feneley MP; Fatkin D, 2011, 'Nesprin-1 and actin contribute to nuclear and cytoskeletal defects in lamin A/C-deficient cardiomyopathy.', J Mol Cell Cardiol, 50, pp. 479 - 486, http://dx.doi.org/10.1016/j.yjmcc.2010.12.001

Granados-Riveron JT; Ghosh TK; Pope M; Bu'Lock F; Thornborough C; Eason J; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour JAL; David Brook J, 2010, 'Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.', Hum Mol Genet, 19, pp. 4007 - 4016, http://dx.doi.org/10.1093/hmg/ddq315

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

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

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

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 Suppl 1, pp. S69, 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, '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

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

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

Sparrow DB; Guillén-Navarro E; Fatkin D; Dunwoodie SL, 2008, 'Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.', Hum Mol Genet, 17, pp. 3761 - 3766, http://dx.doi.org/10.1093/hmg/ddn272

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

Palmer BM; Wang Y; Teekakirikul P; Hinson JT; Fatkin D; Strouse S; Vanburen P; Seidman CE; Seidman JG; Maughan DW, 2008, 'Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex.', Am J Physiol Heart Circ Physiol, 294, pp. H1939 - H1947, http://dx.doi.org/10.1152/ajpheart.00644.2007

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; Otway R; Vandenberg JI, 2007, 'Genes and atrial fibrillation: a new look at an old problem.', Circulation, 116, pp. 782 - 792, http://dx.doi.org/10.1161/CIRCULATIONAHA.106.688889

Otway R; Vandenberg JI; Guo G; Varghese A; Castro ML; Liu J; Zhao J; Bursill JA; Wyse KR; Crotty H; Baddeley O; Walker B; Kuchar D; Thorburn C; Fatkin D, 2007, 'Stretch-sensitive KCNQ1 mutation A link between genetic and environmental factors in the pathogenesis of atrial fibrillation?', J Am Coll Cardiol, 49, pp. 578 - 586, http://dx.doi.org/10.1016/j.jacc.2006.09.044

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

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 MW; Rankin SA; Wolstein O; Castro ML; Butler TL; Hyun C; Guo G; Otway R; Mackay JP; Waddell LB; Cole AD; Hayward C; Keogh A; Macdonald P; Griffiths L; Fatkin D; Sholler GF; Zorn AM; Feneley MP; Winlaw DS; Harvey RP, 2007, 'Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.', Am J Hum Genet, 81, pp. 280 - 291, http://dx.doi.org/10.1086/519530

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

Collas P; Stewart CL; Gruenbaum Y; Oshima J; Young SG; Fatkin D; Capeau J; Julien JP; Lévy N; Goldman A; Goldman RD; Davies K; Wilson KL; Gasser SM; Courvalin JC; Bonne G, 2005, 'Discussion', Novartis Foundation Symposium, 264, pp. 258 - 263

Fatkin D; Bonne G; Davies K; Capeau J; Young SG; Wilson KL; Stewart CL; Giles WR; Goldman A; Goldman RD; Shackleton S; Gruenbaum Y; Julien JP; Worman HJ; Lévy N; Oshima J; Burke B; Gerace L; Lee RT, 2005, 'Discussion', Novartis Foundation Symposium, 264, pp. 90 - 97

Julien JP; Wilson KL; Gruenbaum Y; Goldman A; Goldman RD; Hutchison C; Gerace L; Young SG; Stewart CL; Capeau J; Morris GE; Gasser SM; Bonne G; Fatkin D; Burke B; Giles WR; Lee RT, 2005, 'Discussion', Novartis Foundation Symposium, 264, pp. 273 - 278

Young SG; Capeau J; Goldman A; Goldman RD; Wilson KL; Bonne G; Gruenbaum Y; Shackleton S; Burke B; Worman HJ; Fatkin D; Stewart CL, 2005, 'Discussion', Novartis Foundation Symposium, 264, pp. 177 - 182

Collas P; Starr DA; Gruenbaum Y; Young SG; Shackleton S; Wilson KL; Bonne G; Davies K; Worman HJ; Goldman R; Goldman AE; Gerace L; Malone C; Shumaker DK; Shanahan CM; Fatkin D; Gasser SM; Hutchison C, 2005, 'Discussion', Novartis Foundation Symposium, 264, pp. 219 - 226

Oshima J; Giles WR; Lee RT; Worman HJ; Hutchison C; Bonne G; Gerace L; Morris GE; Fatkin D; Goldman A; Goldman RD; Capeau J; Wilson KL; Shanahan CM; Julien JP; Stewart CL; Ellis J, 2005, 'Discussion', Novartis Foundation Symposium, 264, pp. 133 - 139

Goldman A; Goldman RD; Capeau J; Wilson KL; Young SG; Fatkin D; Julien JP; Davies K; Gasser SM; Burke B; Oshima J; Lévy N; Stewart CL, 2005, 'General discussion I', Novartis Foundation Symposium, 264, pp. 227 - 230

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