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...
Category: <span>Genetics</span>
Gene discovered that can protect against severe muscle disease
Peer-Reviewed Publication UMEA UNIVERSITY FATIMA PEDROSA DOMELLÖF, PROFESSOR AT DEPARTMENT OF CLINICAL SCIENCES, UMEÅ UNIVERSITY, SWEDEN.CREDIT: MATTIAS PETTERSSON A specific gene may play a key role in new treatments that prevent muscle in the body from breaking down in serious muscle diseases, muscular dystrophies. This is shown in a new study at Umeå University, Sweden....
Research team uncovers novel receptor function in fragile X syndrome
by Jeni Bushman, University of Illinois at Urbana-Champaign Summary of the effects from activation of mGluR7 on molecular and behavioral deficits in Fmr1 KO mice. Credit: EMBO Molecular Medicine (2024). DOI: 10.1038/s44321-024-00038-wFragile X syndrome is one of the most commonly inherited forms of autism and intellectual disability, and no treatment currently exists. But a team of...
A ‘gene of prejudice’ could help explain variations in human personality and demystify autism
by University of California – San Diego Credit: Cell Reports (2024). DOI: 10.1016/j.celrep.2024.113867Individuals with the neurodevelopmental disorder Williams syndrome have a gregarious “cocktail party” personality, while those with the opposite genetic alteration, in contrast, tend to have autistic traits and are prone to struggle socially. Now, thanks to new findings by researchers at the Sanford Stem...
New findings could be life-changing for genetic syndrome sufferers
by QIMR Berghofer Credit: Unsplash/CC0 Public DomainAn international research team led by QIMR Berghofer and Peter MacCallum Cancer Center has discovered that people with the hereditary cancer disorder Li Fraumeni syndrome are at greater risk of a much broader spectrum of cancers than previously thought. Li Fraumeni syndrome is a rare but devastating condition, which...
Whole genome sequencing reveals new genetic marker for cardiomyopathy
by The Hospital for Sick Children Functional characteristics of rare tandem repeat expansions. a Burden of rare tandem repeat expansions in different genomic features in individuals with CMP compared to controls. Credit: eBioMedicine (2024). DOI: 10.1016/j.ebiom.2024.105027In the first study to use whole genome sequencing to examine tandem repeat expansions in heart conditions, scientists at The Hospital...
Researchers uncover new clues about links between parent age and congenital disorders
by Oxford University Press Fathers. Credit: Irene Tiemann-Boege / Genome Biology and EvolutionA new paper in Genome Biology and Evolution finds that the link between paternal age and rare congenital disorders is more complex than scientists had previously thought. While researchers have long realized that older fathers are more likely to have children with bone and...
New study pinpoints why some injured kidneys do not heal
by Cedars-Sinai Medical Center Credit: CC0 Public DomainCedars-Sinai investigators have discovered why some injured kidneys heal while others develop scarring that can lead to kidney failure. Their findings, detailed in a paper published in Science, could lead to the development of noninvasive tests to detect kidney scarring and, eventually, new therapies to reverse the condition. “The...
Genes affect your blood pressure from early childhood
Yes, you can have a greater risk of high blood pressure because of your genes. But you can do something about it.Peer-Reviewed Publication NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY Certain genes associated with hypertension affect blood pressure from early in life, and they increase the risk of cardiovascular disease as you get older. However, you...
Scientists discover new target for reversible, non-hormonal male birth control
by Salk Institute Sperm, pictured inside each round cell, were not generated while mice took the HDAC inhibitor drug (top right), but after 60 days off the drug, spermatogenesis was recovered (bottom right). The left column shows sperm at the same time points in a mouse that did not receive the drug. Credit: Salk InstituteSurveys show...