A molecular basis for familial hypertrophic cardiomyopathy:
a beta cardiac myosin heavy chain gene missense mutation
A. A. Geisterfer-Lowrance, S. Kass, G. Tanigawa, H. P. Vosberg, W. McKenna, J. G. Seidman
Clinical recognition that hypertrophic cardiomyopathy
(HCM) was genetically determined
set the stage for the systematic collection of
family data allowing researchers to exploit the
rapid developments in what had been termed
at the time of this paper, “the new genetics.”...
Toll-like receptor 4 polymorphisms and atherogenesis
S. Kiechl, E. Lorenz, M. Reindl, C. J. Wiedermann, F. Oberhollenzer, E. Bonora, J. Willeit, D. A. Schartz
Studies have highlighted the proatherogenic effect
of intravascular inflammation and the role of infectious
agents in atherogenesis...
Prospects for whole-genome linkage disequilibrium mapping
of common disease genes
L. Kruglyak
Genetic advances have allowed us to make
great progress in determining the molecular
substrate for a large number of Mendelian
diseases...
Genetic isolates: separate but equal?
L. Kruglyak
This article is a leader to a paper presented by
Newton Morton’s group (Lonjou C, Collins A,
Morton N. Allelic association between marker
loci. Proc Natl Acad Sci U S A. 1999;96:1621-
1626)...
Disruption of the sarcoglycan-sarcospan complex in vascular
smooth muscle: a novel mechanism for cardiomyopathy
and muscular dystrophy
R. Coral-Vazquez, R. D. Cohn, S. A. Moore, J. A. Hill, R. M. Weiss, R. L. Davisson, V. Straub,
R. Barresi, D. Bansal, R. F. Hrstka, R. Williamson, K. P. Campbell
One short phrase can sum up the importance
of this paper and the message it delivers,
“keep an open mind.” Approximately one
third of cases of dilated cardiomyopathy
(DCM) appear to have a genetic origin...
A calcineurin-dependent transcriptional pathway
for cardiac hypertrophy
J. D. Molkentin, J. R. Lu, C. L. Antos, B. Markham, J. Richardson, J. Robbins, S. R. Grant, E. N. Olson
The pathways that link appropriate stimuli to reprogramming
of myocyte gene expression patterns,
cell growth, and hypertrophy are poorly
understood, but such understanding will be
critical if we are to develop new methods of
countering the myocardial hypertrophic response and decreasing
the associated mortality...
A molecular basis for cardiac arrhythmia: HERG mutations
cause long QT syndrome
M. E. Curran, I. Splawski, K. W. Timothy, G. M. Vincent, E. D. Green, M. T. Keating
LQTS, the long QT syndrome, is a relatively uncommon
disorder (1/10 000), but with terrible
consequences for those families segregating the
phenotype...
Marfan syndrome caused by a recurrent de novo missense
mutation in the fibrillin gene
H. C. Dietz, G. R. Cutting, R. E. Pyeritz, C. L. Maslen, L. Y. Sakai, G. M. Corson, E. G. Puffenberger,
A. Hamosh, E. J. Nanthakumar, S. M. Curristin, et al
Marfan syndrome (MS) is a common inherited
single-gene disease characterized by
ocular, skeletal, and cardiovascular features...
Molecular medicine. The cholesterol quartet
J. L. Goldstein, M. S. Brown
Low-density lipoprotein (LDL) is now unequivocally
causally linked to the development of
coronary heart disease (CHD), one of the leading
causes of death in the Western world...
Myocyte-enriched calcineurin-interacting protein, MCIP1,
inhibits cardiac hypertrophy in vivo
B. A. Rothermel, T. A. McKinsey, R. B. Vega, R. L. Nicol, P. Mammen, J. Yang, C. L. Antos, J. M. Shelton,
R. Bassel-Duby, E. N. Olson, R. S. Williams
Molkentin et al (see page 55) beautifully
described a calcineurin-dependent pathway
that led to the induction of a cardiac
hypertrophic gene transcriptional program
and subsequent myocardial hypertrophy...
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