by Levi Gadye, University of California, San Francisco Intrinsic reactivity and stability of G12Di-6 and 7. a, Stability in the presence of excess compounds (5 mM) bearing reactive functional groups. All data points represent individual biological replicates. Data are presented as mean ± SD (n = 2). b, Stability in 1X PBS at various pH. All data points represent individual biological...
by Gladstone Institutes New research, led by a Gladstone team including Maxine Nelson (left) and Yadong Huang (right), sheds light on protective mechanisms of the “Christchurch mutation.” Credit: Michael Short/Gladstone Institutes (2023) Researchers at Gladstone Institutes have discovered that a rare genetic variant known as the “Christchurch mutation” can block detrimental effects of apolipoprotein E4, the...
by Janosch Deeg, Max Delbrück Center for Molecular Medicine Cardiomyocytes with stained mitochondria (red), sarcomeres (green) and nuclei (blue). Credit: Klaassen Lab, Max Delbrück CenterWhen the PRDM16 gene mutates, heart muscle cells undergo changes in their metabolism. This increases the risk of congenital heart failure in women more than men, as a ECRC research team led...
By MAX PLANCK INSTITUTE FOR BIOLOGY OF AGEING NOVEMBER 7, 2022 Scientists found that worms live longer if introns remain in certain RNAs. The study found that faulty RNA processing can result in longer life. RNA is an important information transmitter in our cells and acts as a blueprint for protein production. When freshly formed RNA is processed,...
by University of Bonn Single variant exome-wide association study Manhattan plot (MAF>0.1%). QQ-plot available in the S1 Fig. Black dashed line demarcates the genome-wide significance threshold (p < 5×10-8). Credit: PLOS Genetics (2022). DOI: 10.1371/journal.pgen.1010367 Rare gene mutations can significantly increase the risk of severe COVID-19 disease. An international research team with significant contribution from the University...
GEORGIA STATE UNIVERSITY IMAGE: DR. CYNTHIA NAU CORNELISSEN, DISTINGUISHED UNIVERSITY PROFESSOR AND DIRECTOR OF THE CENTER FOR TRANSLATIONAL IMMUNOLOGY IN THE INSTITUTE FOR BIOMEDICAL SCIENCES AT GEORGIA STATE UNIVERSITY CREDIT: GEORGIA STATE UNIVERSITY ATLANTA—Creating a mutation that inhibits how the bacterial pathogen Neisseria gonorrhoeae causes gonorrhea, a common sexually transmitted infection, could offer a new...
by University of Utah Health Sciences Pedigree of the family enriched for diabetes and end-stage renal disease and identification of the ADIPOQ mutation. a The family pedigree, status of diabetes (shaded) and end-stage renal disease (ESRD; red outline), and the ADIPOQ mutation (p.Gly93GlufsTer73). Carriers of the wild-type ADIPOQ insertion (I) or mutated ADIPOQ deletion (D; red) are indicated. b The structure of the wild-type (top) and...
by Public Library of Science G2019S LRRK2 induces iron accumulation in inflammatory microglia in vivo. Credit: Mamais A et al., 2021, PLOS Biology, CC-BY 4.0 (creativecommons.org/licenses/by/4.0/) A common gene mutation for Parkinson’s disease drives mislocalization of iron in activated microglia, according to a new study publishing December 16th in the open-access journal PLOS Biology, by Mark Cookson...
by Will Doss, Northwestern University Tumor skin biopsy from two different patients. One patient who has a JAK2 gene fusion is positive for pSTAT3 staining, a marker of activated JAK-STAT signaling (left). Another patient who lacks the JAK2 gene fusion is negative for pSTAT3 (right). The patient with the JAK2 fusion is predicted to have good...
by Will Doss, Northwestern University Graphical abstract. Credit: DOI: 10.1016/j.stem.2021.08.006 Harmful side effects from a common chemotherapy drug could be the result of a single mutation, according to a study published in Cell Stem Cell. The cardiotoxic effects of the chemotherapy drug doxorubicin could be prevented in patients with the mutation by treating them with retinoic acid,...
