Search

Your search keyword '"Theis, Jason D"' showing total 5 results
Start Over Author "Theis, Jason D" Publisher lippincott williams & wilkins
5 results on '"Theis, Jason D"'

4. Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy.

Author

Theis, Jeanne L., Sharpe, Katharine M., Matsumoto, Martha E., High Seng Chai, Nair, Asha A., Theis, Jason D., de Andrade, Mariza, Wieben, Eric D., Michels, Virginia V., and Olson, Timothy M.

Subjects
GENOMES, GENETICS, GENOMICS, DILATED cardiomyopathy, CARDIOMYOPATHIES, HEART failure
Abstract

The article presents a study which performed genome-wide mapping and exome sequencing in a unique family wherein dilated cardiomyopathy (DCM) segregated as an autosomal recessive (AR) trait. The study found a single shared homozygous missense mutation localized to the 7q21 critical region. It also implicated epigenetic perturbation as an underlying basis for human heart failure.

Published
2011
Full Text
View/download PDF

5. Expression Patterns of Cardiac Myofilament Proteins: Genomic and Protein Analysis of Surgical Myectomy Tissue From Patients With Obstructive Hypertrophic Cardiomyopathy.

Author

Theis, Jeanne L., Bos, J. Martijn, Theis, Jason D., Miller, Dylan V., Dearani, Joseph A., Schaff, Hartzell V., Gersh, Bernard J., Ommen, Steve R., Moss, Richard L., and Ackerman, Michael J.

Subjects
CYTOPLASMIC filaments, HYPERTROPHIC cardiomyopathy, HEART failure patients, MYOMECTOMY, GENETIC research
Abstract

The article offers a study of expression and localization of myofilament proteins in left ventricular tissue of patients having hypertrophic cardiomyopathy (HCM). It notes the examination and genotype made to frozen surgical myectomy specimens from 47 patients with HCM for mutations that engaged 8 myofilament-encoding genes. It cites that the mechanism of dysfunction differ base to the genetic subgroup suggested by an abnormal distribution of myofilament proteins.

Published
2009
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results