A. Towbin, M.D.
B.S., University of Cincinnati, 1974
X-linked cardiomyopathy was first shown by our laboratory
to be caused by dystrophin mutations. More recently, we identified mutations
in the dystrophin-associated protein genes d-sarcoglycan
and a-dystrobrevin as causes of autosomal
dominant dilated cardiomyopathy and LV
noncompaction, respectively. We are currently studying many families
with familial dilated
cardiomyopathy, familial LV noncompaction, familial restrictive
cardiomyopathy, and arrhythmogenic
RV dysplasia for the causative genes.
2. Bowles NE, Ni J, Kearney DL, Pauschinger M, Schultheiss H-P, McCarthy R, Hare J, Bricker JT, Bowles KR, Towbin JA (2003). Detection of viruses in myocardial tissues by polymerase chain reaction: Evidence of adenovirus as a common cause of myocarditis in children and adults. J. Am. Coll. Cardiol. 42: 466-472.
3. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin J-H, Vu T, Zhou Q, Bowles KR, DiLenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA (2003). Mutations in Cypher/ZASP in Patients with Dilated Cardiomyopathy and Left Ventricular Non-Compaction. J. Am. Coll. Cardiol. 42: 2014-2027.
4. Vatta M, Stetson SJ, Torre-Amione G, Pauschinger M, Bowles NE, Towbin JA (2002). Selective disruption of the N-terminus of dystrophin in end-stage cardiomyopathies: A final common pathway of cardiac dysfunction. Lancet 359: 936-941.
5. Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA (2002). Genetic and Biophysical Basis of Sudden Unexplained Nocturnal Death Syndrome (SUNDS), a Disease Allelic to Brugada Syndrome. Hum. Mol. Genet. 11: 337-345.
6. Feng J, Yan JY, Buzin CH, Sommer SS, Towbin JA (2002). Comprehensive Mutation Scanning of the Dystrophin Gene in Patients with Nonsyndromic X-Linked Dilated Cardiomyopathy. J. Am. Coll. Cardiol. 40: 1120-1124.
7. Towbin JA, Bowles NE (2002). The Failing Heart. Nature 415: 227-233.
8. Towbin JA, Bowles NE (2001). Sarcoglycan, The Heart, and Skeletal Muscles: New Treatment Old Drug? J. Clin. Invest. 107: 153-154.
9. Shirali GS, Ni J, Chinnock RE, Vander Dussen LK, Johnson JK, Bowles NB, Towbin JA (2001). Association of Viral Genome with Transplant Coronary Arteriopathy and Graft Loss in Children Following Cardiac Transplantation: Identification Using PCR. N. Engl. J. Med. 344: 1498-1503, 1545-1547.
For more publications, see listing on Pub Med.
Jeffrey A. Towbin, M.D.
Chief, Pediatric Cardiology
Texas Children's Hospital
6621 Fannin Street, MC 19345-C
Houston, TX 77030, USA
Mail Stop: MC 19345-C