By Professor Diane Fatkin

Journal articles

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

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

Stennard FA; Costa M; Lai D; Biden C; Furtado MB; Solloway MJ; McCulley D; Leimena C; Preis JI; Dunwoodie SL; Elliott D; Prall OW; Black B; Fatkin D; Harvey RJ, 2005, 'Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaption', Development (Cambridge), 132, pp. 2451 - 2462

Fatkin D; Nikolova V; Leimena C; McMahon A; Tan JC; Chandar S; Jogia DM; Kesteven S; Michalicek J; Otway R; Martin DI; Stewart C; Rainer SP; Feneley MP, 2004, 'Nuclear structure and function defects promote dilated cardiomyopathyin lamin A/C-deficient mice', Circulation, 108, pp. 96 - 96, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000186360600510&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a

Nikolova V; Leimena C; McMahon A; Tan JC; Chandar S; Jogia DM; Kesteven SH; Michalicek J; Otway R; Verheyen et A, 2004, 'Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice', Journal of Clinical Investigation, 113, pp. 357 - 369, http://www.sciencedirect.com/science/article/B6WVB-4C6HSDW-2B0/2/b5c557d0c4b19d92a6cc8e60e0aa004a

Elliott DA; Kirk EP; Yeoh T; Chandar S; McKenzie F; Taylor P; Grossfeld P; Fatkin D; Jones O; Hayes P; Feneley M; Harvey RP, 2003, 'Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome', Journal of the American College of Cardiology, 41, pp. 2072 - 2076, http://dx.doi.org/10.1016/S0735-1097(03)00420-0

Elliott DA; Kirk EP; Yeoh TB; Chandar S; McKenzie F; Taylor PC; Grossfeld P; Fatkin D; Jones OD; Hayes P; Feneley MP; Harvey RJ, 2003, 'Cardiac Homebox Gene NKX2-5 Mutations and Congenital Heart Disease', Journal of the American College of Cardiology, 41, pp. 2072 - 2076

Novotny J; Nikolova V; Fatkin D, 2003, 'Structural analysis of Imna gene mutations', Heart, Lung and Circulation, 12, pp. A59 - A59, http://dx.doi.org/10.1046/j.1443-9506.2003.0240x.x

Fatkin D; Graham RM, 2002, 'Molecular mechanisms of inherited cardiomyopathies', Physiological Reviews, 82, pp. 945 - 980, http://dx.doi.org/10.1152/physrev.00012.2002

McConnell BK; Fatkin D; Semsarian C; Jones KA; Georgakopoulos D; Maguire CT; Healey MJ; Mudd JO; Moskowitz IPG; Conner DA; Giewat M; Wakimoto H; Berul CI; Schoen FJ; Kass DA; Seidman CE; Seidman JG, 2001, 'Comparison of two murine models of familial hypertrophic cardiomyopathy', Circulation Research, 88, pp. 383 - 389, http://dx.doi.org/10.1161/01.RES.88.4.383

Bruneau BG; Bao ZZ; Fatkin D; Xavier-Neto J; Georgakopoulos D; Maguire CT; Berul CI; Kass DA; Kuroski-De Bold ML; De Bold AJ; Conner DA; Rosenthal N; Cepko CL; Seidman CE; Seidman JG, 2001, 'Cardiomyopathy in Irx4-deficient mice is preceded by abnormal ventricular gene expression', Molecular and Cellular Biology, 21, pp. 1730 - 1736, http://dx.doi.org/10.1128/MCB.21.5.1730-1736.2001

Fatkin D; Graham RM; Spirito P; Maron BJ, 2001, 'Prognostic value of left ventricular hypertrophy in hypertrophic cardiomyopathy', New England Journal of Medicine, 344, pp. 63 - 65, http://dx.doi.org/10.1056/NEJM200101043440115

Semsarian C; Healey MJ; Fatkin D; Giewat M; Duffy C; Seidman CE; Seidman JG, 2001, 'A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy', Journal of Molecular and Cellular Cardiology, 33, pp. 2055 - 2060, http://dx.doi.org/10.1006/jmcc.2001.1466

Seidman JG; Semsarian C; McConnell BK; Fatkin D; Mudd J; Moskowitz I; Schoen F; Giewat M; Seidman C, 2000, 'Familial Hypertrophic Cardiomyopathy in Mice and Men', Biochemical Society Transactions, 28, pp. A104 - A104, http://dx.doi.org/10.1042/bst028a104c

Schönberger J; Levy H; Grünig E; Sangwatanaroj S; Fatkin D; MacRae C; Stäcker H; Halpin C; Eavey R; Philbin EF; Katus H; Seidman JG; Seidman CE, 2000, 'Dilated cardiomyopathy and sensorineural hearing loss: A heritable syndrome that maps to 6q23-24', Circulation, 101, pp. 1812 - 1818, http://dx.doi.org/10.1161/01.CIR.101.15.1812

Fatkin D; McConnell BK; Mudd JO; Semsarian C; Moskowitz IGP; Schoen FJ; Giewat M; Seidman CE; Seidman JG, 2000, 'An abnormal Ca²⁺ response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy', Journal of Clinical Investigation, 106, pp. 1351 - 1359, http://dx.doi.org/10.1172/JCI11093

Fatkin D; Macrae C; Sasaki T; Wolff MR; Porcu M; Frenneaux M; Atherton J; Vidaillet HJ; Spudich S; De Girolami U; Seidman JG; Seidman CE; Muntoni F; Müehle G; Johnson W; McDonough B, 1999, 'Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease', New England Journal of Medicine, 341, pp. 1715 - 1724, http://dx.doi.org/10.1056/NEJM199912023412302

Back to profile page