Zobrazeno 1 - 10
of 49
pro vyhledávání: '"M. Benjamin Perryman"'
Publikováno v:
American Journal of Medical Genetics Part A. :1438-1443
The 11q terminal deletion disorder (11q-) is a rare chromosomal disorder caused by a deletion in distal 11q. Fifty-six percent of patients have clinically significant congenital heart defects. A cardiac "critical region" has been identified in distal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be5e2453717c2bd2cd4ddce55644dab
https://doi.org/10.1002/ajmg.a.32913
https://doi.org/10.1002/ajmg.a.32913
Autor:
Steve M. Helmke, Michelle L. Harmon, Stanley C. Kwok, M. Benjamin Perryman, Stephen M. Lu, Robert S. Hodges, Joe W. Glasford, Tricia D. Larsen
Publikováno v:
Journal of Molecular Recognition. 19:215-226
Myotonic dystrophy protein kinase (DMPK) was the initial representative of a ubiquitous protein kinase family that regulates cell size and shape. DMPK is highly expressed in heart and skeletal muscle and transgenic over-expression induces cardiac hyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d491d8db2fdb200b4930b9fa7d73bb17
https://doi.org/10.1002/jmr.769
https://doi.org/10.1002/jmr.769
Autor:
Chia-Yu Yen, Steve M. Helmke, Karin Nunley, Krzysztof J. Cios, Mark W. Duncan, M. Benjamin Perryman, Michael R. Bristow
Publikováno v:
Analytical Chemistry. 76:1683-1689
We have developed a novel method for quantifying protein isoforms, in both relative and absolute terms, based on MALDI-TOF mass spectrometry. The utility of the approach is demonstrated by quantifying the alpha and beta protein isoforms of myosin hea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::305d43cb4b112f5dfd0044ecf74c54fc
https://doi.org/10.1021/ac035144l
https://doi.org/10.1021/ac035144l
Autor:
Jeffrey Robbins, Christine Brosseau, Norman R. Alpert, Hanna Osinska, John N. Lorenz, Andrea Federico, David M. Warshaw, Raisa Klevitsky, M. Benjamin Perryman, Maike Krenz, Florence Bouyer-Dalloz, Steve M. Helmke, James Gulick, Timothy E. Hewett, Atsushi Sanbe
Publikováno v:
Journal of Biological Chemistry. 278:17466-17474
Comparison of mammalian cardiac alpha- and beta-myosin heavy chain isoforms reveals 93% identity. To date, genetic methodologies have effected only minor switches in the mammalian cardiac myosin isoforms. Using cardiac-specific transgenesis, we have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846e9ae13b1a02c0302e98fad04dca17
https://doi.org/10.1074/jbc.m210804200
https://doi.org/10.1074/jbc.m210804200
Autor:
Shuping Ge, Wayne Minobe, Steve M. Helmke, Michael R. Bristow, M. Benjamin Perryman, Alastair D. Robertson, Gary Brodsky, Teresa J. Bohlmeyer, Jennifer Lynch, James H Sederberg
Publikováno v:
Cardiovascular Pathology. 12:23-31
Introduction: Hypoplastic left heart syndrome (HLHS) is the term used to describe a group of congenital malformations characterized by marked underdevelopment of the left side of the heart. HLHS accounts for nearly 25% of cardiac deaths in the first
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d91467b9f5fb45840b79e3167f2448a
https://doi.org/10.1016/s1054-8807(02)00127-8
https://doi.org/10.1016/s1054-8807(02)00127-8
Autor:
J. Randall Moorman, M. Benjamin Perryman, Erik W. Bush, Larry R. Jones, John W. Gilbert, Allen D. Roses, J. Paul Mounsey, J. Edward John, Steve M. Helmke
Publikováno v:
Journal of Biological Chemistry. 275:23362-23367
The genetic abnormality in myotonic muscular dystrophy, multiple CTG repeats lie upstream of a gene that encodes a novel protein kinase, myotonic dystrophy protein kinase (DMPK). Phospholemman (PLM), a major membrane substrate for phosphorylation by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::853eb22381d97c55323b8aa364ef064e
https://doi.org/10.1074/jbc.m000899200
https://doi.org/10.1074/jbc.m000899200
Autor:
M. Benjamin Perryman, Maoqing Ye, Anthony Wynshaw-Boris, Leopoldo Zelante, Ju Chen, Fabienne Parente, Xiaodong Li, Paul Grossfeld
Publikováno v:
American journal of medical genetics. Part A. (4)
Jacobsen syndrome (11q-) is a rare chromosomal disorder caused by deletions in distal11q. Many of the most common and severe congenital heart defects that occur in the general population occur in 11q-. Previous studies have demonstrated that gene-tar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6459625136ac2753d76a9bcadfaf11dc
https://pubmed.ncbi.nlm.nih.gov/24616287
https://pubmed.ncbi.nlm.nih.gov/24616287
Autor:
Kristine M. Wynne, Norbert F. Voelkel, David B. Badesch, M. Benjamin Perryman, Bertron M. Groves, William T. Abraham, Mary V. Raynolds, Brigitte Gottschall, Brian D. Lowes, Michael R. Bristow
Publikováno v:
Cardiology. 86:9-15
Angiotensin II causes pulmonary vasoconstriction in man and in animals, and angiotensin-converting enzyme (ACE) inhibitors have prevented the development of chronic pulmonary hypertension in animals models. Angiotensin II may contribute to lung vascu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb12fca53cf04f72df7815c434264cd5
https://doi.org/10.1159/000176939
https://doi.org/10.1159/000176939
Publikováno v:
The FASEB Journal. 26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a0c18d0a17f2c49f81bd4073e07ee2d
https://doi.org/10.1096/fasebj.26.1_supplement.lb567
https://doi.org/10.1096/fasebj.26.1_supplement.lb567
Autor:
Joseph W. Glasford, Erin B. Harmon, M. Benjamin Perryman, Tricia D. Larsen, Jie Yang, Michelle L. Harmon
Publikováno v:
The Journal of biological chemistry. 286(46)
Myotonic dystrophy 1 (DM1) is a multisystemic disease caused by a triplet nucleotide repeat expansion in the 3′ untranslated region of the gene coding for myotonic dystrophy protein kinase (DMPK). DMPK is a nuclear envelope (NE) protein that promot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d18e690ea4e31e7b60c7dd120b3c14
https://pubmed.ncbi.nlm.nih.gov/21949239
https://pubmed.ncbi.nlm.nih.gov/21949239