Table References

Disease and Gene Association

1. Bartsch, O et al. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.  Eur. J. Hum. Gen. 7(7):748-56 (1999).

2. Benson, D.W. et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac development pathways. J. Clin. In.  104(11): 1567-1573 (1999).

3. Berg, J et al. Bullous ichthyosiform erythroderm, developmental delay, aortic and pulmonary stenosis in association with a FRA12A. Clin. Dysmorphol. 9(3)213-219 (2000).

4. Brewer, C. et al. A Chromosomal Deletion Map of Human Malformations. Am. J. Hum. Gen. 63:1153-1159 (1998).

5. Bruneau, BG, et al. Chamber-Specific Cardiac Expression of TBX5 and Heart Defects in Holt-Oram Syndrome. Developmental Biology 211: 100-108 (1999).

6. Campione, M et al. Pitx2 Expression Defines a Left Cardiac Lineage of Cells: Evidence for Atrial and Ventricular Molecular Isomerism in the iv/iv Mice.  Dev Bio 231: 252-264 (2001)

7. Dasgupta C. et al. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient get electrophoresis (DGGE).2 Mutat. Res. 8; 479(1-2): 173-186 (2001).

8. Donovan, J et al. Tetralogy of Fallot and Other Congenital Heart Defects in Hey2 Mutant Mice. Curr Bio 12:1605-1610 (2002)

9.  Elliott, D A et al. Cardiac Homeobox Gene NKX2.5 Mutations and Congenital Heart Disease J Am Coll Card  41(11): 2072-2076 (2003)

10. Footz, TK et al. Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A search for Candidate Genes at or near the Human Chromosome 22 Pericentromere. Gen Res 11: 1053-1070 (2001)

11. Galdzicka, M et al. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Gen Metab 77: 291-295 (2002)

12. Goldmuntz, E. et al. NKX2.5 Mutations in Patients with Tetralogy of Fallot. Circulation. 104 (21): 2565-2568 (2001).

13. Hatcher, CJ and Basson, CT. Getting the T-box dose right. Nature Medicine 7 (11): 1185-1186 (2001).

14. Jones, C. et al. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. Hum. Mol. Genet. 9(8): 1201-1208 (2000).

15. Junker, R. et al. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardio. Res. 51: 251-254 (2001).

16. Kalkhoven, E et al. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Gen 12 (4): 441-450 (2003)

17. Krasner, A et al. Cloning and chromosomal localization of the human BARX2 homeobox protein gene. Gene 250: 171-180 (2000).

18. Meins, M et al Partial trisomy of chromosome 22 resulting from and interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. J Med Genet 40 (e62): 1-4 (2003)

19. Phillips, H.M. et al. Narrowing the Critical Region within 11q24-qter for Hypoplastic Left Heart and Identification of a Candidate Gene, JAM3, Expressed during Cardiogenesis. Genomics 79(4): 475-478 (2002)

20. Pierpont, M E et al. Genetic Aspects of Atrioventricular Septal Defects. Am J Med Genet. 97: 289-296 (2000)

21. Robinson, S W et al. Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventiruclar Septal Defects. Am J Hum Genet  72: 1047-1052 (2003)

22. Rosias P.R. et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet. Couns. 12(3): 273-282 (2001).

23. Ruiz-Perez, V L et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Gen 24: 283-286 (2000)

24. Ruiz-Perez, V L et al.  Mutations in Two Nonhomologus Genes in a Head-to-Head Configuration Cause Ellis Creveld Syndrome. Am J Hum Genet 72: 728-732 (2003)

25. Sakata, Y et al. Venticular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2. PNAS 99 (25): 16197-16202 (2002)

26. Sarkozy, A et al. Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene. Am J Med Gen. 116A: 389-390 (2003) Letter

27. Towbin, J.A. and Belmont, J. Molecular Determinates of Left and Right Outflow Tract Obstruction. Am. J. Med. Genet. 97: 297-303 (2000).

28. Vaughan, C J et al. Molecular Determinants of Atrial and Ventricular Septal Defects and Patent Ductus Arteriosus. Am J Med Genet  97: 304-309 (2001)

29. Velinov, M et al. Hypoplastic Left Heart in a Female Infant With Partial Trisomy 4q Due to De Novo 4;21 Translocation. Am.. J. Med. Gen.. 107: 330-333 (2002).

Gene and Pathway Association:

1. Bruneau, BG, et al. Chamber-Specific Cardiac Expression of TBX5 and Heart Defects in Holt-Oram Syndrome. Developmental Biology 211: 100-108 (1999).

2.  Cohen-Barak, O et al. Sox6 regulation of cardiac myocyte development. Nuc Acid Res 31 (30): 5941-5948 (2003)

3.  Cripps, R.M. and Olsen, E. N.  Control of Cardiac Development by an Evolutionarily Conserved Transcriptional Network. Dev. Bio. 246: 14-28 (2002). 

4. Durocher, D. et al. The cardiac transcription factors Nkx2.5 and GATA-4 are mutual cofactors. EMBO J. 16(18)5687-5696 (1997).

5. Hatcher, CJ and Basson, CT. Getting the T-box dose right. Nature Medicine 7 (11): 1185-1186 (2001).

6. Jamali, M. et al. Nkx2-5 Activity Is Essential for Cardiomyogenesis. J. Bio. Chem. 276(45): 42252-42258 (2001).

7. Liberatore, C. M. et al. Ventricular Expression of tbx5 Inhibits Normal Heart Chamber Development. Dev. Bio. 223: 169-180 (2000).

8. Peterkin, T et al. GATA-6 maintains BMP-4 and NKX2 expression during cardiomyocyte precursor maturation. EMBO J 22 (16): 4260-4273 (2003)

9. Yamagishi, H. et al. The Combinatorial Activities of Nkx2.5 and dHAND Are Essential for Cardiac Ventricle Formation. Dev. Bio. 239: 190-203 (2001).

10. Yamagishi, H. et al. A Molecular Pathway Revealing a Genetic Basis for human Cardiac and Craniofacial Defect. Science 283(5405): 1158-1161 (1999).

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