Results 91 to 100 of about 5,512,004 (328)
Public Health Genomics, 2004 Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting.
openaire +3 more sources
ACSS2 involved in acetyl‐CoA synthesis regulates skeletal muscle function
FEBS Letters, EarlyView.The enzyme acyl‐coenzyme A synthetase short‐chain family member‐2 (ACSS2) catalyzes the conversion of acetate to acetyl‐CoA, but its function in skeletal muscle is unclear. We studied ACSS2 deficiency in mouse and fly models. Skeletal muscle from the mouse model showed atrophic fibers, excess lipid, and depleted NADH.
Mekala Gunasekaran +6 more
wiley +1 more source
Valeriy Pavlovich Puzyryov (to the 60th birthday)
Бюллетень сибирской медицины, 2007 Creative biography of the famous home scientist, medical doctor, honoured scientist of Russia, academician of RAMS, director of the Institute of Medical Genetics , TSC, SB of RAMS , chief of medical genetics chair of the Siberian State Medical University
Editorial Article
doaj +2 more sources
Advances in Medical Education and Practice, 2015 Michael J Wolyniak,1 Lynne T Bemis,2 Amy J Prunuske2 1Department of Biology, Hampden-Sydney College, Hampden-Sydney, VA, 2Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA Abstract: Genetics is an essential ...
Wolyniak MJ, Bemis LT, Prunuske AJ
doaj
Disorders of sex development (DSD): an overview of recent scientific advances [PDF]
, 2014 Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core
FEBS Letters, EarlyView.Antimicrobial resistance (AMR) is of huge importance, resulting in over 1 million deaths each year. Here, we describe how a new drug, enmetazobactam, designed to help fight resistant bacterial diseases, inhibits a key enzyme (GES‐1) responsible for AMR. Our data show it is a more potent inhibitor than the related tazobactam, with high‐level computation
Michael Beer +10 more
wiley +1 more source
FEBS Letters, EarlyView.Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican +7 more
wiley +1 more source
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study [PDF]
, 2007 BACKGROUND: Family studies and heritability estimates provide evidence for a genetic contribution to variation in the human life span. METHODS:We conducted a genome wide association study (Affymetrix 100K SNP GeneChip) for longevity-related traits in a ...
Benjamin, Emelia J +11 more
core +6 more sources
Current conditions in medical genetics practice
Genetics in Medicine, 2019 PurposeThis study of current conditions in medical genetics practice is designed to inform public policy development and present possible solutions for improving access to genetic services.MethodsUsing the American College of Medical Genetics and ...
Deborah R. Maiese +4 more
semanticscholar +1 more source