by University College London Truncating variants in ALPK3 are a cause of 1–2% of autosomal dominant hypertrophic cardiomyopathy and are associated with a phenotype characterized by extensive fibrosis and a predominantly concentric or apical pattern of left ventricular hypertrophy without left ventricular outflow tract obstruction. (A) Main phenotype characteristics and outcomes. ALPK3tv, alpha-protein kinase 3-truncating variants;...
by Krina Zondervan and Thomas Tapmeier, The Conversation Endometriosis can be an extremely painful condition. Credit: Jelena Stanojkovic/ Shutterstock Up to 10% of women experience endometriosis worldwide. The condition is chronic, extremely painful, and can result in infertility. Endometriosis happens when tissue similar to the lining of the womb (the endometrium) grows outside of the womb, in...
ELIFE New insight on the link between a gene called SORBS2 and congenital heart disease has been published today in eLife, with findings that may help explain the cause of the disease in some patients. Some people with congenital heart disease are missing part of the long arm of chromosome 4, otherwise known as chromosome 4q....
by Bob Yirka , Medical Xpress An illustration of natural killer cells. Credit: Val Altounian / AAAS A large team of researchers affiliated with a host of institutions in Europe and the U.S. has found a gene that plays a critical role in natural killer cell differentiation. In their paper published in the journal Science Immunology,...
NIH/NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE IMAGE: NIH FUNDED RESEARCHERS DISCOVERED THAT A GENE CALLED PIEZO2 MAY HELP US SENSE WHEN OUR BLADDERS ARE FULL, AND IT IS TIME TO URINATE. In a National Institutes of Health (NIH)-funded study involving both mice and patients who are part of an NIH Clinical Center trial, researchers discovered that...
SCRIPPS RESEARCH INSTITUTE IMAGE: CLAUDIO JOAZEIRO, PHD, IS A PROFESSOR IN THE SCRIPPS RESEARCH DEPARTMENT OF MOLECULAR MEDICINE JUPITER, FL — Failures in a quality control system that protects protein-building fidelity in cells can lead to motor neuron degeneration and related diseases, according to a new study from an international team co-directed by Scripps Research...
INDIANA UNIVERSITY SCHOOL OF MEDICINE IMAGE: SUTHAT LIANGPUNSAKUL, MD INDIANAPOLIS–Researchers at Indiana University School of Medicine are learning more about how a person’s genes play a role in the possibility they’ll suffer from alcoholic cirrhosis with the discovery of a gene that could make the disease less likely. Alcoholic cirrhosis can happen after years of...
by Washington University School of Medicine Dementia is one of the most debilitating consequences of Parkinson’s disease, a progressive neurological condition characterized by tremors, stiffness, slow movement and impaired balance. Eighty percent of people with Parkinson’s develop dementia within 20 years of the diagnosis, and patients who carry a particular variant of the gene APOE...
Long understood as source of novel genetic traits, jumping genes also provide genomic stability WASHINGTON UNIVERSITY SCHOOL OF MEDICINE “Jumping genes” — bits of DNA that can move from one spot in the genome to another — are well-known for increasing genetic diversity over the long course of evolution. Now, new research at Washington University...
The study provides exciting material for understanding the mechanisms of the immune response to pathogenic microorganisms. ITMO UNIVERSITY An international research team which includes specialists from ITMO University has conducted a series of experiments with the goal of studying the immune system and identifying the genes and proteins involved in the response to certain harmful...
