To deeply investigate the potential role of UTX in neurogenesis, scientists have developed a KDM6A-deficient murine model in neural stem/progenitor cells (NSPCs).
Los Angeles is one of the most diverse cities in the U.S. This diversity is evident at University of California, Los Angeles (UCLA), a university that attracts students (37,000) and workers (22,090) from 118 countries. It is enough to go for a walk on campus or its surroundings to believe that one is at a United Nations convention. Researchers at the UCLA ATLAS Community Health Initiative has been capturing that diversity in a genomic biobank whose data will help to understand, anonymously, the genetic basis of certain diseases. With them, scientists will be able to design the best treatments for these patients.
Researchers from Beam Therapeutics Inc. presented the discovery and preclinical evaluation of an engineered stem cell antibody paired evasion (ESCAPE) strategy for antibody (Ab)-mediated autologous hematopoietic stem cell (HSC) therapy conditioning for the treatment of hemoglobinopathies.
Ventus Therapeutics Inc. has nominated a potential first-in-class cyclic GMP-AMP synthase (cGAS) inhibitor, VENT-03, as the company’s first development candidate directed against cGAS.
Alagille syndrome (ALGS) is a rare JAG1 (encodes for a Notch ligand) autosomal dominant disease affecting approximately 1 in 30,000-40,000 individuals. ALGS developmental defects cause an absence of bile ducts (intrahepatic duct paucity, IHDP) with an inability to transport bile from the liver to bile ducts (cholestasis) as well as heart problems.
The sex-determining region Y (SRY)-related HMG-box, group E (SOXE) transcription factors SOX9 and SOX10 are essential for the specification and differentiation of many progenitor cell types and for the development of several organs and tissues.
Israeli researchers have created cell lines, using cells donated by an individual with Klinefelter syndrome, that had different combinations of sex chromosomes but were otherwise isogenic. As reported in Stem Cell Reports on Nov. 24, 2022, lead investigator Benjamin Reubinoff, a clinician and professor in obstetrics and gynecology at Hadassah Hebrew University in Jerusalem, and team used cells donated from a mosaic Klinefelter syndrome patient to create the cell-based model. Patients with Klinefelter syndrome appear male, but have an extra X chromosome.
Investigators at the École Polytechnique Fédérale de Lausanne (EPFL; Swiss Federal Institute of Technology Lausanne) have identified a broad role for the fragile X mental retardation protein (FMRP) in suppressing antitumor immunity, they reported in the Nov. 18, 2022, issue of Science. The results could lead to new ways to boost antitumor immunity. Scientifically, they also provide new insights into the link between tumors and the nervous system.
Mutations in FMR1, the gene that codes for FMRP, cause fragile X syndrome, a neurodevelopmental syndrome that is characterized by mental retardation and autism-like symptoms.Previous work in the laboratory of Douglas Hanahan, who is the senior author of the Science paper, as well as by other teams had shown that FMRP levels were increased in several tumor types, and increased the chances that those tumors would metastasize.
Alport syndrome (AS) is a hereditary disease affecting type IV collagen that is caused – in 80% of cases – by the COL4A5 gene. In 10% to 20% of AS cases, a mutation cannot be detected.
Social scientists are well aware of the consequences of what’s called assortative mating, that is, the fact that marriages tend to occur between people who are similar in things such as interests, social status, education and wealth. Biologists, on the other hand, have tended to ignore it. “When studying the genetic underpinnings of correlated traits, “for mathematical convenience, we’ve assumed basically for forever that mating is random,” Richard Border told BioWorld. “Which it isn’t.”
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