Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives
Reexamination Certificate
2003-02-24
2008-11-11
Switzer, Juliet C. (Department: 1634)
Organic compounds -- part of the class 532-570 series
Organic compounds
Carbohydrates or derivatives
C435S006120, C536S024330
Reexamination Certificate
active
07449561
ABSTRACT:
The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to detect a human sporadic DCM predisposing gene, specifically the dystrophin gene, some mutant alleles of which cause susceptibility to sporadic DCM. More specifically, the invention relates to germline mutations in the dystrophin gene and their use in the diagnosis of predisposition to sporadic DCM. The invention also relates to the prophylaxis and/or therapy of sporadic DCM associated with a mutation in the dystrophin gene. The invention further relates to the screening of drugs for sporadic DCM therapy. Finally, the invention relates to the screening of the dystrophin gene for mutations/alterations, which are useful for diagnosing the predisposition to sporadic DCM.
REFERENCES:
patent: 5474796 (1995-12-01), Brennan
Arbustini et al., Journal of the American College of Cardiology, 2000, vol. 35, No. 7, pp. 1760-1768.
Chaturvedi et al., Experimental and Molecular Medicine, 2001, vol. 33, No. 4, pp. 251-256.
Genbank Accession No. M18533, May 25, 2000.
Arbustini, E. et al., “Genetics of Idiopathic Dilated Cardiomyopathy,” Herz 25(3):156-160, 2000.
Arbustini, E. et al., “Prevalence and Characteristics of Dystrophin Defects in Adult Male Patients With Dilated Cardiomyopathy,” Journal of the American College of Cardiology, 35(7):1760-1768, 2000.
Bowles, N.E. et al., “The ‘Final Common Pathway’ Hypothesis and Inherited Cardiovascular Disease,” Herz 25:168-175, 2000.
Gold, R. et al., “Brief Communication: Becker Muscular Dystrophy: Detection of Unusual Disease Courses by Combined Approach to Dystrophin Analysis,” Muscle & Nerve 15:214-218, 1992.
Hunsaker, R.H. et al., “Cardiac Function in Duchenne's Muscular Dystrophy, Results of 10-Year Follow-up Study and Noninvasive Tests,” The American Journal of Medicine 73:235-238, 1982.
Mendell, J.R. et al., “Diagnosis of Duchenne Dystrophy by Enhanced Detection of Small Muations,” Neurology 57:645-650, 2001.
Milasin J. et al., “A Point Mutation in the 5′ Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy,” Human Molecular Genetics 5(1):73-79, 1996.
Muntoni, F. et al., “Brief Report: Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy,” N. Eng. J. Med. 329(13):921-925, 1993.
Muntoni, F. et al., “A Mutation in the Dystrophin Gene Selectively Affecting Dystrophin Expression in the Heart,” J. Clin. Invest. 96:693-699, 1995.
Muntoni, F. et al., “Dystrophin Gene Abnormalities in Two Patients with Idiopathic Dilated Cardiomyopathy,” Heart 78:608-612, 1997.
Ortiz-Lopez, R. et al., “Evidence for a Dystrophin Missense Mutation as a Cause of X-Linked Dilated Cardiomyopathy,” Circulation 95:2434-2440, 1997.
Perloff, J.K. et al., “The Cardiomyopathy of Progressive Muscular Dystrophy,” Circulation 33:625-648, 1996.
Yoshida, K. et al., “Insertional Mutation by Transposable Element, L1, in theDMDGene Results in X-Linked Dilated Cardiomyopathy,” Human Molecular Genetics 7(7):1129-1132, 1998.
Buzin Carolyn
Feng Jinong
Sommer Steve S.
Towbin Jeffrey
Yan Jin
Baylor College of Medicine
City of Hope
Rothwell Figg Ernst & Manbeck p.c.
Salmon Katherine
Switzer Juliet C.
LandOfFree
Alterations in the dystrophin gene associated with sporadic... does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Alterations in the dystrophin gene associated with sporadic..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Alterations in the dystrophin gene associated with sporadic... will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-4035085