Congenital Heart Defects and Cardiovascular Development

Recent Publications (2011 -)

Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaicka E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ. State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman CE, Goldmuntz E, Gelb BD, Lifton R, Seidman JG, Hakonarson H, Chung WK. Increased Frequency of De novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data.  Circ Research.  2014: In revision.

Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013;112(4):707-20. | PDF Download 

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe’er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013;498(7453):220-3. | PDF Download

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*.  Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and dilated cardiomyopathy. Circ Cardiovasc Genet.  2013;6(3):238-247.  PMCID: PMC3816146. | PDF Download

DeLaughter DM, Christodoulou DC, Robinson JY, Seidman CE, Baldwin HS, Seidman JG, Barnett JV.  Spatial transcriptional profile of the chick and mouse endocardial cushions identify novel regulators of endocardial EMT in vitro.  J Mol Cell Cardiol. 2013 June;59:196-204. PMCID: PMC3659811. | PDF Download

Gelb BD,Brueckner M, Chung WK, Goldmuntz E, Kaski JP, Kim RW, Kline JK, Mercer LM, Porter, Jr. GA, Roberts AE, Rosenberg ER, Seiden HS, Seidman CE, Sleeper LA, Tennstedt SL, Kaltman JR and the Pediatric Cardiac Genomics Consortium.  The Congenital Heart Disease Genetic Network Study (CHD GENES): Rationale, Design, and Early.  Circ Res.  2013;112:698-706.  PMCID: PMC3679175.

Gelb BD, Seidman CE. The Good SHP2 Association: A Porthole into the Genetics of Congenital Heart Disease. Circ Cardiovas Genet. 2012;5(3):271-3. PMCID: PMC3380280. | PDF Download

Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segrè AV, Roberts AE, Smoot LB, Pu WT, C Pereira A, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA.  Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.  Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):14035-40. PMCID: PMC3435181. | PDF Download

Delgado-Olguín P, Huang Y, Li X, Christodoulou D, Seidman CE, Seidman JG, Tarakhovsky A, Bruneau BG. Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis. Nat Genet. 2012 Jan 22;44(3):343-7. PMCID: PMC3288669. | PDF Download

He A, Ma Q, Cao J, von Gise A, Zhou P, Xie H, Zhang B, Hsing M, Christodoulou D, Cahan P, Daley GQ, Kong SW, Orkin SH, Seidman CE, Seidman JG, Pu WT. Polycomb Repressive Complex 2 Regulates Normal Development of the Mouse Heart. Circ Res. 2012 Feb 3;110(3):406-15. PMCID: PMC3282145. | PDF Download

Moskowitz IP, Wang J, Peterson MA, Pu WT, Mackinnon AC, Oxburgh L, Chu GC, Sarkar M, Berul C, Smoot L, Robertson EJ, Schwartz R, Seidman JG, Seidman CE. Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected]Proc Natl Acad Sci U S A. 2011;108(10):4006-11. | PDF Download

 


 

 

Prior Selected Publications (- 2010)

Chen PC, Wakimoto H, Conner D, Araki T, Yuan T, Roberts A, Seidman CE, Bronson R, Neel BG, Seidman JG, Kucherlapati R.  Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome-associated Sos1 mutation.  J Clin Invest. 2010 Dec 1;120(12):4353-65.  PMCID: PMC2993597.

LageK, Møllgård K, Greenway S, Wakimoto H, Gorham JM, Workman CT, Bendsen E, Hansen NT, Rigina O, Roque FS, Wiese C, Christoffels VM, Roberts AE, Smoot LB, Pu WT, Donahoe PK, Tommerup N, Brunak S, Seidman CE, Jonathan JG, Larsen LA.  Dissecting spatio-temporal protein networks driving human heart development and related disorders.  Molecular Systems Biology. 2010; 6:381.  PMCID: PMC2913399.

Kamp A, Peterson MA, Svenson KL, Bjork BC, Hentges KE, Rajapaksha TW, Moran J, Justice MJ, Seidman JG, Seidman CE, Moskowitz IP, Beier DR.  Genome–wide Identification of Mouse Congenital Heart Disease Loci.  Hum Mol Genet. 2010 Aug 15;19(16):3105-13.  PMCID: PMC2908466.

Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JR, Korn JM, McCarroll SA, Gabriel S, Altshuler DA, Quintanilla-Dieck MdL, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG*, Seidman CE.*  Rare De Novo Copy Number Variants Define Loci in Sporadic Tetralogy of Fallot.  Nat Genet. 2009;41(8):931-5.  PMCID: PMC2747103.

Moskowitz IPG, Kim JB, Wolf CM, Peterson MA, Shendure J, Moore ML, Yokota Y, Izumo S, Seidman JG, Seidman CE.  A Molecular Pathway Including Id2, Tbx5, and Nkx2-5 Required for Cardiac Conduction System Development.  Cell. 2007 Jun 29;129(7):1365-76.

Mori AD, Zhu Y, Vahora I, Nieman B, Koshiba-Takeuchi K, Davidson L, Pizard A, Seidman JG, Seidman CE, Chen XJ, Henkelman RM, Bruneau BG. Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis.  Dev Biol. 2006;297(2):566-586.

Bruneau, BG, Nemer G, Schmitt J-P, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, Seidman JG.  Murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease.  Cell. 2001;106:709-722.

Bruneau B, Bao ZZ, Tanaka M, Schott J-J, Izumo S, Cepko CL, Seidman JG, Seidman CE.  Cardiac expression of the mammalian iroquois-related homeobox gene Irx4 is restricted to the ventricles and is dependent on Nkx2.5.  Development. 2000;217:266-277.

Kasahara H, Lee B, Schott J-J, Benson DW, Seidman JG, Seidman CE, Izumo S.  Loss of Function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease.  J Clin Invest. 2000;106(2):299-308.

Seidman JG, Seidman CE.  Transcription factor haploinsufficiency: When half a loaf is not enough.  J Clinical Invest (Commentary). 2002;109(4):451-455.

Bruneau B, Logan M, Davis N, Levi T, Tabin CJ, Seidman JG, Seidman CE.  Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome.  Dev Biol. 1999;211:100-108.

Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Morton CC, Pierpont MEM, Müller CW, Seidman CE, Seidman JG.  Different TBX5 interactions in heart and limb defined by Holt-Oram Syndrome mutations.  Proc Natl Acad Sci, USA. 1999;96:2919-2924.

Bao ZZ, Bruneau B, Seidman CE, Seidman JG, Cepko CL.  CIrx4 regulates the chamber-specific expression of myosin heavy chain genes in the developing heart.  Science. 1999;283:1161-1164.

Schott, JJ, Benson, DW, Basson CT, Pease W, Silberbach M, Moak JP, Maron BJ, Seidman CE, Seidman JG.  Congenital heart disease caused by mutations in the transcription factor Nkx2.5. Science. 1998;281(5373):108-111

Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, McDonough B, Strauss AW, Seidman JG, Seidman CE.  Reduced penetrance, variable expressivity and genetic heterogeneity of familial atrial septal defects.  Circulation. 1998;97(20):2043-2048.

Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE.  Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram Syndrome.  Nat Genet. 1997;15(1):30-35.

Basson CT, MacRae CA, Schoenberg-Fejzo M, Morton CC, Spinner NB, Genin A, Krug E, Seidman JG, Seidman CE.  Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130.  Genomics. 1996;35(3):628-631.

Marigo V, Roberts DJ, Lee SMK, Tsukurov O, Levi T, Gastier JM, Epstein DJ, Gilbert DJ, Copeland NG, Seidman CE, Jenkins NA, Seidman JG, McMahon AP, Tabin C.  Cloning, expression and chromosomal location of SHH and IHH: Two human homologues of the Drosophilia segment polarity gene hedgehog.  Genomics. 1995;28:44-51.

Knowlton KU, Rockman HA, Itani M, Vovan A, Seidman CE,  Chein KR.  Divergent pathways mediate the induction of ANF transgenes in neonatal and hypertrophic ventricular myocardium.  J Clin Invest. 1995;96:1311-1318.

Basson CT, Solomon SD, Weissman B, MacRae CA, Poznanski AK, Prieto F, de la Fuente SR, Pease WE, Levin SE, Holmes L, Seidman JG, Seidman, CE.  Genetic heterogeneity of heart-hand syndromes.  Circulation. 1995;91:1326-1329.

Basson CT, Cowley GS, Traill TA, Solomon S, Seidman JG, Seidman CE.  The clinical and genetic spectrum of the Holt-Oram Syndrome.  N Eng J Med. 1994;330:885-891.

Rosenzweig A and Seidman CE.  Atrial natriuretic factor and related peptides hormones.  Ann Rev Biochem. 1991;60:229‑256.

Rosenzweig A, Halazonetis TD, Seidman JG, Seidman CE.  Proximal regulatory domains of the rat atrial natriuretic factor gene.  Circulation. 1991;84:1256-1265.

Seidman CE, Schmidt E, Seidman JG.  Cis‑dominance of rat atrial natriuretic factor gene regulatory sequences in transgenic mice.  Can J Physiol Pharm. 1991;69:1486-92.

Bloch KD, Zamir N, Lichtstein D, Seidman CE, Seidman JG.  Oubain induces secretion of proatrial natriuretic factor by rat atrial cardiocytes.  Amer J Physiol. 1988;255(3 Pt 1):E383‑E387.

Seidman CE, Wong D, Bloch KD, Seidman JG.  Cis acting sequences that modulate atrial natriuretic factor gene expression.  Proc Natl Acad Sci, USA. 1988;85:4104‑4108.

Seidman CE, and Bloch KD. Molecular approaches to the study of atrial natriuretic factor.  Amer J Med Sciences. 1987;294:144‑149.

Zeller R, Bloch KD, Williams BS, Arceci RJ, Seidman CE.  Localized expression of the atrial natriuretic factor gene during cardiac embryogenesis.  Genes and Development. 1987;1:693‑698.

Bloch KD, Jones SW, Preibisch G, Seipke G, Seidman CE, Seidman JG.  Proatrial natriuretic factor is phosphorylated by rat cardiocytes in culture.  J Biol Chem. 1987;21:9956‑9961.

Bloch KD, Seidman JG, Naftilan JD, Fallon JT, Seidman CE.  Neonatal atria and ventricles secrete atrial natriuretic factor via tissue specific secretory pathways.  Cell. 1986;47:695‑702.

Zisfein JB, Matsueda GR, Fallon JT, Bloch KD, Seidman CE, Seidman JG, Homcy CJ, Graham RM.  Atrial natriuretic factor: Assessment of its structure in atria and regulation of its biosynthesis with volume depletion.  J Mol Cell Cardiol. 1986;18:917‑29.

Bloch KD, Scott JA, Zisfein JB, Fallon JT, Seidman CE, Matsueda GR, Seidman JG.  Biosynthesis and secretion of proatrial natriuretic factor by cultured rat cardiocytes.  Science. 1985;230:1168‑71.

Seidman CE, Bloch KD, Zisfein JB, Smith JA, Haber E, Homcy CJ, Duby AD, Choi E, Graham RM, Seidman JG.  Molecular studies of the atrial natriuretic factor gene.  Hypertension. 1985;7(Suppl I):I31‑34.

Seidman CE, Bloch KD, Klein K, Smith JA, Seidman JG.  Nucleotide sequence of the human and mouse atrial natriuretic factor genes.  Science. 1984;226:1206‑9.