Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 31

1.

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, Kersten A, Perrot A, Panek AN, Al Khatib IH, Nemer G, Mégarbané A, Dietz R, Stiller B, Berger F, Harvey RP, Ozcelik C.

J Med Genet. 2010 Apr;47(4):230-5. doi: 10.1136/jmg.2009.069997. Epub 2009 Sep 16.

2.

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.

Kodo K, Nishizawa T, Furutani M, Arai S, Yamamura E, Joo K, Takahashi T, Matsuoka R, Yamagishi H.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13933-8. doi: 10.1073/pnas.0904744106. Epub 2009 Aug 4.

3.

Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development.

Maitra M, Schluterman MK, Nichols HA, Richardson JA, Lo CW, Srivastava D, Garg V.

Dev Biol. 2009 Feb 15;326(2):368-77. doi: 10.1016/j.ydbio.2008.11.004. Epub 2008 Nov 20.

4.

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE.

Hum Mol Genet. 2008 Sep 15;17(18):2886-93. doi: 10.1093/hmg/ddn187. Epub 2008 Jun 30.

5.

A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.

Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF.

Circ Res. 2008 Jun 6;102(11):1433-42. doi: 10.1161/CIRCRESAHA.107.168294. Epub 2008 May 1.

6.

Loss of both GATA4 and GATA6 blocks cardiac myocyte differentiation and results in acardia in mice.

Zhao R, Watt AJ, Battle MA, Li J, Bondow BJ, Duncan SA.

Dev Biol. 2008 May 15;317(2):614-9. doi: 10.1016/j.ydbio.2008.03.013. Epub 2008 Mar 20.

7.

The developmental genetics of congenital heart disease.

Bruneau BG.

Nature. 2008 Feb 21;451(7181):943-8. doi: 10.1038/nature06801. Review.

PMID:
18288184
8.

GATA4 sequence variants in patients with congenital heart disease.

Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E.

J Med Genet. 2007 Dec;44(12):779-83.

9.

Spectrum of heart disease associated with murine and human GATA4 mutation.

Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT.

J Mol Cell Cardiol. 2007 Dec;43(6):677-85. Epub 2007 Jun 21.

10.

Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.

Schluterman MK, Krysiak AE, Kathiriya IS, Abate N, Chandalia M, Srivastava D, Garg V.

Am J Med Genet A. 2007 Apr 15;143A(8):817-23.

PMID:
17352393
11.

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A.

Am J Hum Genet. 2007 Mar;80(3):510-7. Epub 2007 Jan 18.

12.

The genetics of cardiac birth defects.

Ransom J, Srivastava D.

Semin Cell Dev Biol. 2007 Feb;18(1):132-9. Epub 2006 Dec 20. Review.

PMID:
17240175
13.
14.

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD, Tartaglia M.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R220-6. Review.

PMID:
16987887
15.

A threshold of GATA4 and GATA6 expression is required for cardiovascular development.

Xin M, Davis CA, Molkentin JD, Lien CL, Duncan SA, Richardson JA, Olson EN.

Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11189-94. Epub 2006 Jul 17.

16.

Insights into the genetic basis of congenital heart disease.

Garg V.

Cell Mol Life Sci. 2006 May;63(10):1141-8. Review.

PMID:
16568242
17.

GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis.

Lepore JJ, Mericko PA, Cheng L, Lu MM, Morrisey EE, Parmacek MS.

J Clin Invest. 2006 Apr;116(4):929-39. Epub 2006 Mar 23.

18.

Mutation in myosin heavy chain 6 causes atrial septal defect.

Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD.

Nat Genet. 2005 Apr;37(4):423-8. Epub 2005 Feb 27.

PMID:
15735645
19.

GATA4 is essential for formation of the proepicardium and regulates cardiogenesis.

Watt AJ, Battle MA, Li J, Duncan SA.

Proc Natl Acad Sci U S A. 2004 Aug 24;101(34):12573-8. Epub 2004 Aug 13.

20.

GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1.

Flück CE, Miller WL.

Mol Endocrinol. 2004 May;18(5):1144-57. Epub 2004 Feb 26.

PMID:
14988427

Supplemental Content

Support Center