Chapter 48
Role of the Sodium–calcium Exchanger (NCX-1) within Splotch (Sp2h) Myocardial Failure
Jian Wang, Andrew Lindsley,
Tony Creazzo,
Srinagesh V. Koushik,
Simon J. Conway,
Andrew Lindsley
Search for more papers by this authorTony Creazzo
Search for more papers by this authorSrinagesh V. Koushik
Search for more papers by this authorSimon J. Conway
Search for more papers by this authorJian Wang, Andrew Lindsley,
Tony Creazzo,
Srinagesh V. Koushik,
Simon J. Conway,
Andrew Lindsley
Search for more papers by this authorTony Creazzo
Search for more papers by this authorSrinagesh V. Koushik
Search for more papers by this authorSimon J. Conway
Search for more papers by this authorBook Editor(s):Michael Artman MD, D. Woodrow Benson MD, PhD,
Deepak Srivastava MD,
Makoto Nakazawa MD,
D. Woodrow Benson MD, PhD
Professor of Pediatrics, Director, Cardiovascular Genetics, Division of Cardiology, Cincinnati Children's Hospital Medical Center
Search for more papers by this authorDeepak Srivastava MD
Pogue Distinguished Chair in Research on Cardiac Birth Defects, Joel B. Steinberg, M.D. Chair in Pediatrics Professor, Departments of Pediatrics and Molecular Biology, University of Texas, Southwestern Medical Center at Dallas
Search for more papers by this authorMakoto Nakazawa MD
Professor and Head, Pediatric Cardiology, The Heart Institute of Japan, Tokyo Women's Medical University
Search for more papers by this authorFirst published: 01 January 2005
References
- Goulding M, Sterrer S, Fleming J, et al. Analysis of the Pax-3 gene in the mouse mutant splotch. Genomics 1993; 17: 355–63.
-
Dickman ED,
Rogers R,
Conway SJ.
Abnormal skeletogenesis occurs coincident with increased apoptosis in the Splotch (Sp2H) mutant - putative roles for Pax3 and PDGFR a in rib patterning.
Anat Rec
1999;
255: 353–61.
10.1002/(SICI)1097-0185(19990701)255:3<353::AID-AR11>3.0.CO;2-H CAS PubMed Web of Science® Google Scholar
- Schubert FR, Tremblay P, Mansouri A, et al. Early mesodermal phenotypes in splotch suggest a role for Pax3 in the formation of epithelial somites. Dev Dyn 2001; 222: 506–21.
- Creazzo TL, Godt RE, Leatherbury L, Conway SJ, Kirby ML. Role of cardiac neural crest cells in cardiovascular development. Annu Rev Physiol 1998; 60: 267–86.
- Franz T. Persistent truncus arteriosus in the Splotch mutant mouse. Anat Embryol (Berl) 1989; 180: 457–64.
- Conway SJ, Henderson DJ, Copp AJ. Pax3 is required for cardiac neural crest migration in the mouse: evidence from the (Sp2H) mutant. Development 1997; 124: 505–14.
- Conway SJ, Godt RE, Hatcher C, et al. Neural crest is involved in development of abnormal myocardial function. J Mol Cell Cardiol 1997; 29: 2675–85.
- Conway SJ, Henderson DJ, Kirby ML, Anderson RH, Copp AJ. Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse. Cardiovasc Res 1997; 36: 163–73.
- Tassabehji M, Newton VE, Liu XZ, et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet 1995; 4: 2131–7.
- Banerjee AK. Waardenburg's syndrome associated with ostium secundum atrial septal defect. J R Soc Med 1986; 79: 677–678.
- Mathieu M, Bourges E, Caron F, Piussan C. Waardenburg's syndrome and severe cyanotic cardiopathy. Arch Fr Pediatr 1990; 47: 657–9.
- Serbedzija GN, McMahon AP. Analysis of neural crest cell migration in Splotch mice using a neural crest-specific LacZ reporter. Dev Biol 1997; 185: 139–47.
- Epstein JA, Li J, Lang D, et al. Migration of cardiac neural crest cells in Splotch embryos. Development 2000; 127: 1869–78.
- Conway SJ, Bundy J, Chen J, et al. Abnormal neural crest stem cell expansion is responsible for the conotruncal heart defects within the Splotch (Sp2H) mouse mutant. Cardiovasc Res 2000; 47: 314–28.
- Kwang SJ, Brugger SM, Lazik A, et al. Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest. Development 2002; 129: 527–3.
- Jiang X, Rowitch DH, Soriano P, McMahon AP, Sucov HM. Fate of the mammalian cardiac neural crest. Development 2000; 127: 1607–16.
- Waldo K, Zdanowicz M, Burch J, et al. A novel role for cardiac neural crest in heart development. J Clin Invest 1999; 103: 1499–507.
- Kochilas LK, Li J, Jin F, Buck CA, Epstein JA. p57Kip2 expression is enhanced during mid-cardiac murine development and is restricted to trabecular myocardium. Pediatr Res 1999; 45: 635–42.
- Kruzynska-Frejtag A, Machnicki M, Rogers R, Markwald RR, Conway SJ. Periostin (an osteoblast-specific factor) is expressed within the embryonic mouse heart during valve formation. Mech Dev 2001; 103: 183–88.
- Koushik SV, Wang J, Rogers R, et al. Targeted inactivation of the sodium-calcium exchanger (Ncx1) results in the lack of a heartbeat and abnormal myofibrillar organization. FASEB J 2001; 15: 1209–11.
- Hollenbach AD, McPherson CJ, Lagutina I, Grosveld G. The EF-hand calcium-binding protein calmyrin inhibits the transcriptional and DNA-binding activity of Pax3. Biochim Biophys Acta 2002; 1574: 321–8.
- Koushik SV, Bundy J, Conway SJ. Sodium-calcium exchanger is initially expressed in a heart-restricted pattern within the early mouse embryo. Mech Dev 1999; 88: 119–22.
- Philipson KD, Nicoll DA. Sodium-calcium exchange: a molecular perspective. Annu Rev Physiol 2000; 62: 111–33.
