FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO IMAGE: VANESSA O. ZAMBELLI AND PHD CANDIDATE BEATRIZ STEIN NETO. IN A STUDY INVOLVING MICE, THE SCIENTISTS DISCOVERED THAT AN AVIAN VARIANT OF THE TRPV1 RECEPTOR CREDIT: RAFAEL PORTO Pain afflicts at least 1.5 billion people worldwide, and despite the availability of various painkilling drugs,...
by Rutgers University NLGN3 R451C mixed culture of induced neuronal (iN) cells. Credit: Molecular Psychiatry (2022). DOI: 10.1038/s41380-022-01834-x Scientists looking to understand the fundamental brain mechanisms of autism spectrum disorder have found that a gene mutation known to be associated with the disorder causes an overstimulation of brain cells far greater than that seen in neuronal cells...
Fibrolamellar carcinoma is a rare and lethal liver cancer that disproportionately harms young adults. It is nearly incurable. Surgery can remove the tumor, but no existing therapies are capable of reining in the cancer once it starts to spread throughout the body. The findings in Clinical Cancer Research highlight a promising drug target for an intractable disease,...
UNIVERSITY OF COLOGNE IMAGE: REPRESENTATIVE IMAGES OF NEURONAL ROSETTES DERIVED FROM CONTROL SAMPLES AND CAPRIN1+/- CELLS. CAPRIN1 PROTEIN (MAGENTA) COULD BE EASILY DETECTED IN THESE STRUCTURES. CREDIT: BRUNHILDE WIRTH, UNIVERSITY OF COLOGNE Two studies have revealed that certain disorders of the CAPRIN1 gene have significant consequences for people. First, the research team showed that insufficient...
by The Mount Sinai Hospital Graphical abstract. Credit: Cell Reports (2022). DOI: 10.1016/j.celrep.2022.110637 Mutation of a gene called ARID2 plays a role in increasing the chance that melanoma, a deadly skin cancer, will turn dangerously metastatic, Mount Sinai researchers report. The findings suggest that patients whose melanoma tumors have an ARID2 mutation may have a more aggressive cancer and may need...
People who carry the BRCA1 or BRCA2 gene mutation have an increased risk of pancreatic, stomach and prostate cancers, as well as the previously well-known risk of breast and ovarian cancers – but not for melanoma, according to new University of Melbourne led research calling for increased testing in male carriers to detect the cancers early. The study used...
by Josh Barney, University of Virginia Hao Jiang is an associate professor in UVA’s Department of Biochemistry and Molecular Genetics. Credit: Jiang Lab Researchers at the University of Virginia School of Medicine have discovered how a common gene mutation robs people of natural cancer protection. Hao Jiang, of the UVA Cancer Center, and his collaborators...
by Johns Hopkins University School of Medicine New SaferSeqS technology detects rare mutations in blood in a highly efficient manner and reduces the error rate. Credit: Elizabeth Cooke Next-generation gene sequencing (NGS) technologies—in which millions of DNA molecules are simultaneously but individually analyzed—theoretically provides researchers and clinicians the ability to noninvasively identify mutations in the blood...
AGENCY FOR SCIENCE, TECHNOLOGY AND RESEARCH (A*STAR), SINGAPORE IMAGE: Eye of a patient with exfoliation syndrome. The typical white exfoliation material deposits on the surface of the lens are visible (red arrows) with the aid of a slit lamp at 16x magnification under white light. Exfoliation material may not be visible on unaided exam. CREDIT:...
by McMaster University Credit: CC0 Public Domain Canadian scientists looking at a rare genetic mutation think they may have discovered the proverbial fountain of youth. But it’s not for everyone: so far, the mutation has only been found in a handful of French-Canadian families. Called PCSK9Q152H, the mutation of the PCSK9 gene was initially thought to...
