Results 21 to 30 of about 10,016,032 (374)

Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon, 2020
FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva, Yana Koycheva, Rositsa Racheva, Teodora Taseva, Tsveta Raycheva, Stiliana Simeonova, Boryan Andreev   +6 more
doaj   +1 more source

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

iScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin   +8 more
doaj   +1 more source

Bringing genetics into primary care: findings from a national evaluation of pilots in England [PDF]

, 2009
Objectives: Developments in genetic knowledge and clinical applications are seen as rendering traditional modes of organizing genetics provision increasingly inappropriate.
Checkland K, Currie G, Eisenhardt KM, Graeme Currie, Graham Martin, Martin GP, Paton C, Rachael Finn, Secretary of State for Health.   +8 more
core   +1 more source

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
doaj   +1 more source

Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]

, 2017
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC, Bina Joe, Biron P, Biron P, Bright R, Cook HW, Dublin LI, Dublin LI, Dupont J, Esunge PM, Felts JH, Garrod AE, Garrod AE, Garrod AE, Hamilton M, Hamilton M, Hamilton M, Joe B, Koffler M, Korner PI, Kuijpers MH, Lee YH, Lewis O, Markel’ AL, Matsukawa N, Mo R, Ohno Y, Pickering GW, Pravenec M, Sandosh Padmanabhan, Schlager G, Shear CL, Shiozawa M, Smolarek I, Zhang Y   +34 more
core   +1 more source

Genome-wide analyses identify SCN5A as a susceptibility locus for premature atrial contraction frequency

iScience, 2022
Summary: Premature atrial contractions (PACs) are frequently observed on electrocardiograms and are associated with increased risks of atrial fibrillation (AF), stroke, and mortality.
Sébastien Thériault, Medea Imboden, Mary L. Biggs, Thomas R. Austin, Stefanie Aeschbacher, Emmanuel Schaffner, Jennifer A. Brody, Traci M. Bartz, Martin Risch, Kirsten Grossmann, Henry J. Lin, Elsayed Z. Soliman, Wendy S. Post, Lorenz Risch, Jose E. Krieger, Alexandre C. Pereira, Susan R. Heckbert, Nona Sotoodehnia, Nicole M. Probst-Hensch, David Conen   +19 more
doaj   +1 more source

The Genetics of Parkinson’s Disease and Implications for Clinical Practice

Genes, 2021
The genetic landscape of Parkinson’s disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance
Jacob O Day, S. Mullin
semanticscholar   +1 more source

The 2019 US medical genetics workforce: a focus on clinical genetics

Genetics in Medicine, 2021
This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible ...
Brittany D. Jenkins, Catherine G. Fischer, Courtney Polito, Deborah R. Maiese, Alisha Keehn, Megan Lyon, M. Edick, Matthew R Taylor, H. Andersson, J. Bodurtha, M. Blitzer, M. Muenke, M. Watson   +12 more
semanticscholar   +1 more source

Dermatology [PDF]

, 2004
Dermatology continues to develop at a steady pace. In the past few years there have been exciting advances in our understanding of skin structure and function in health and disease and progress in genetics, epidemiology, immunology, pharmacology and ...
Boffa, Michael J.
core   +1 more source

Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables [PDF]

, 2014
In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
core   +6 more sources