Multiple ETS family transcription factors bind mutant p53 via distinct interaction regions
FEBS Letters, EarlyView.Mutant p53 gain‐of‐function is thought to be mediated by interaction with other transcription factors. We identify multiple ETS transcription factors that can bind mutant p53 and found that this interaction can be promoted by a PXXPP motif. ETS proteins that strongly bound mutant p53 were upregulated in ovarian cancer compared to ETS proteins that ...
Stephanie A. Metcalf +6 more
wiley +1 more source
In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS
FEBS Letters, EarlyView.We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka +11 more
wiley +1 more source
Discovery of ETS1 as a New Gene Predisposing to Dilated Cardiomyopathy
DiagnosticsBackground/Objectives: Dilated cardiomyopathy (DCM), defined as dilation and contractile dysfunction of the left or both cardiac ventricles, remains the most common category of primary myocardial disease worldwide.
Zun-Ping Ke +7 more
doaj +1 more source
Abstracts of papers read at the Spring Meeting of the Swedish Association for Human Genetics, April 2, 1976, at the Department of Medical Genetics, University of Umeå, Sweden [PDF]
, 2009 openalex +1 more source
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
Australian Journal of Clinical EducationAdvances in genomic medicine are transforming modern healthcare, with genetics playing an increasingly integral role across multiple medical specialties.
Kelsey Walsh
doaj +1 more source
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) [PDF]
, 2018 Lynn Wein Bush +5 more
openalex +1 more source
Introducing undergraduate students to reverse genetics in the laboratory: a case study of a project-oriented learning (POL) system in Taishan Medical University, China [PDF]
, 2020 Lijuan Yu, Henglong Zhang, Jing Zhai
openalex +1 more source
PICALM::MLLT10 translocated leukemia
FEBS Letters, EarlyView.This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen +7 more
wiley +1 more source
Frontiers in GeneticsDesmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations ...
Dario Cocciadiferro +16 more
doaj +1 more source