Abstract

The application proposes to identify genes responsible for an autosomal dominant form of idiopathic ventricular fibrillation, the Brugada Syndrome. PI is following up the identification of mutations in a cardiac sodium channel gene (SCN5A) in three families with this disorder. Other families are NOT linked to SCN5A and so the PI proposes to map them by linkage, assess candidate genes (channel protein genes) if they map to the appropriate location, do fine mapping and physical mapping and gene isolation by positional cloning and positional EST candidate approaches. If pathogenic mutations are found, he proposes to collaborate in expressing them in frog oocytes to study the effect of the mutations on ion fluxes and action potentials.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Research Project (R01)
Project #
5R01HL062570-04
Application #
6537588
Study Section
Mammalian Genetics Study Section (MGN)
Program Officer
Spooner, Peter
Project Start
1999-04-01
Project End
2004-03-31
Budget Start
2002-04-01
Budget End
2004-03-31
Support Year
4
Fiscal Year
2002
Total Cost
$348,426
Indirect Cost

  Institution

Name
Baylor College of Medicine
Department
Pediatrics
Type
Schools of Medicine
DUNS #
074615394
City
Houston
State
TX
Country
United States
Zip Code
77030

  Publications

Shen, Betty W; Spiegel, Paul Clint; Chang, Chong-Hwan et al. (2008) The tertiary structure and domain organization of coagulation factor VIII. Blood 111:1240-7
Mediano, O; Barcelo, A; de la Pena, M et al. (2007) Daytime sleepiness and polysomnographic variables in sleep apnoea patients. Eur Respir J 30:110-13
Ji, Lisa L; Gottlieb, Helmut B; Penny, Maurice L et al. (2007) Differential effects of water deprivation and rehydration on Fos and FosB/DeltaFosB staining in the rat brainstem. Exp Neurol 203:445-56
Lu, C-W; Lin, J-H; Rajawat, Y S et al. (2006) Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. J Med Genet 43:653-9
Li, Richard C; Lee, Seung Kwan; Pouranfar, Farzan et al. (2006) Hypoxia differentially regulates the expression of neuroglobin and cytoglobin in rat brain. Brain Res 1096:173-9
Montgomery-Downs, Hawley E; O'Brien, Louise M; Gulliver, Tanya E et al. (2006) Polysomnographic characteristics in normal preschool and early school-aged children. Pediatrics 117:741-53
Mehl, Rochelle C; O'Brien, Louise M; Jones, Janet H et al. (2006) Correlates of sleep and pediatric bipolar disorder. Sleep 29:193-7
Goldbart, Aviv D; Goldman, Julie L; Veling, Maria C et al. (2005) Leukotriene modifier therapy for mild sleep-disordered breathing in children. Am J Respir Crit Care Med 172:364-70
Goldbart, Aviv D; Veling, Maria C; Goldman, Julie L et al. (2005) Glucocorticoid receptor subunit expression in adenotonsillar tissue of children with obstructive sleep apnea. Pediatr Res 57:232-6
Montgomery-Downs, H E; Crabtree, V M; Gozal, D (2005) Cognition, sleep and respiration in at-risk children treated for obstructive sleep apnoea. Eur Respir J 25:336-42

Showing the most recent 10 out of 19 publications