by BGI Genomics (A): Pedigree of the patient’s family, including parents, a sister who died of HI disease, a stillbirth boy at 12 weeks of pregnancy, two healthy brothers and sister carrying the mutation and the patient.(B): The Sanger sequencing results of the members in the patient’s family. The results show that the patient’s parents,...
UNIVERSITY OF COPENHAGEN – THE FACULTY OF HEALTH AND MEDICAL SCIENCES Sarcomas are cancer tumours found in e.g. the bones, muscles or fatty tissue. It is a rare type of cancer seen in only one percent of cancer patients. It is complex and difficult to treat. However, a new study may have found a new...
KECK SCHOOL OF MEDICINE OF USC Prostate cancer takes a greater toll on Black men than on men of other races. In the United States, one in six Black men will get prostate cancer in their lifetime, compared to one in eight men overall. Black men are also more than twice as likely to die...
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 Queensland University of Technology Credit: Pixabay/CC0 Public Domain QUT and Dutch scientists have identified two new genes involved in hemiplegic migraine, a rare, debilitating subtype of migraine that causes weakness along one side of the body during the aura phase. Distinguished Professor Lyn Griffiths, Director of the QUT Center for Genomics and Personalized Health,...
by Washington University School of Medicine A new study from Washington University School of Medicine in St. Louis identifies a possible treatment strategy for some bone marrow failure syndromes. Shown are human embryonic stem cells engineered to have a mutation that causes poikiloderma with neutropenia, a bone marrow failure syndrome that increases a patient’s risk...
HUBRECHT INSTITUTE IMAGE: HEART MUSCLE CELLS WITHOUT (WILDTYPE) OR WITH (MUTANT) THE NEWLY DISCOVERED MUTATION. PROTEINS THAT ARE PRESENT IN HEART MUSCLE CELLS SPECIFICALLY (GREEN), DESMOSOMAL PROTEINS (RED) AND CELL NUCLEI (BLUE) ARE VISIBLE. CREDIT: JANTINE MONSHOUWER-KLOOTS, COPYRIGHT HUBRECHT INSTITUTE Researchers from the group of Eva van Rooij in collaboration with the UMC Utrecht identified a...
by Institute of Cancer Research Acute depletion of SET1/COMPASS core subunits reveals rapid turnover of H3K4me3. a, Schematic of the degron systems for the targeted degradation of DPY30 and RBBP5. b,c, Immunoblot analysis of DPY30, RBBP5 and H3K4me1–3 levels at the indicated times after treatment with 500 nM auxin (b) or 500 nM dTAG-13 (c). Washout, degron ligand was...
by Greta Friar, Whitehead Institute for Biomedical Research Cells that have had a bit of SARS-CoV-2 mRNA put into them. DNA is in blue and the SARS-CoV-2 protein is in red. Credit: Liguo Zhang/ Whitehead Institute SARS-CoV-2, the virus that causes COVID-19, seems to have become a permanent presence in our lives. Research from Whitehead Institute Founding...
by Murdoch Children’s Research Institute Graphical representation of the findings from this study. Graphical summary of key findings from this study of sarcomere disorganization and SQSTM1 and MYOM1 mislocalization in ALPK3mut hPSC CMs. Credit: Nature Cardiovascular Research (2023). DOI: 10.1038/s44161-023-00219-9 Researchers have discovered how a gene that increases the risk of developing genetic heart disease functions, paving the way for new...
