We present a red-haired patient who came to our clinic seeking information regarding his predisposition to skin cancer. We discuss the receptor involved in hair color and the allelic variants that lead to red hair. These variants are often characterized by loss of function mutations, which lead to a predisposition to non-melanoma skin cancers, with relative risks reaching as high as a 6.7 in one study. Most concerning, however, is that some of these loss of function mutations may act synergistically with genetic mutations that cause familial melanomas. Thus, red haired patients with familial melanoma syndromes have a greater risk of melanoma than those patients with familial melanoma syndromes alone.
Download full-text PDF |
Source |
---|
Proc Natl Acad Sci U S A
February 2025
Zanvyl Krieger Mind/Brain Institute, Johns Hopkins University, Baltimore, MD 21218.
The hippocampal dentate gyrus (DG) is thought to orthogonalize inputs from the entorhinal cortex (pattern separation) and relay this information to the CA3 region. In turn, attractor dynamics in CA3 perform a pattern completion or error correction operation before sending its output to CA1. In a mouse model of congenital hypoplasia of the DG, a deficiency in the (Wls) gene, specifically in cells expressing , which targets neuronal progenitors, led to an almost total absence of dentate granule cells and modestly impaired performance in spatial tasks.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
February 2025
State Key Laboratory of Genetic Engineering, School of Life Sciences, Liver Cancer Institute of Zhongshan Hospital, Fudan University, Shanghai 200438, China.
Aging is a complex process that affects multiple organs, and the discovery of a pharmacological approach to ameliorate aging is considered the Holy Grail of medicine. Here, we performed an N-ethyl-N-nitrosourea forward genetic screening in zebrafish and identified an accelerated aging mutant named (), harboring a mutation in the - () gene. Loss of leads to a short lifespan and age-related characteristics in the intestine of zebrafish embryos, such as cellular senescence, genomic instability, and epigenetic alteration.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
February 2025
Courant Institute for Mathematical Sciences and Department of Biology, New York University, New York, NY 10012.
Accurate chromosome segregation in mitosis depends on proper connections of sister chromatids, through microtubules, to the opposite poles of the early mitotic spindle. Transiently, many inaccurate connections are formed and rapidly corrected throughout the mitotic stages, but a small number of merotelic connections, in which a chromatid is connected to both spindle poles, remain lagging at the spindle's equator in anaphase. Most of the lagging chromatids are eventually moved to one or the other pole, likely by a combination of microtubules' turnover and the brute force of pulling by the microtubules' majority from the one pole against the microtubules' minority from the other pole.
View Article and Find Full Text PDFACS Appl Mater Interfaces
January 2025
Department of Physics, Chair for Functional Materials, TUM School of Natural Sciences, Technical University of Munich, James-Franck-Str. 1, 85748 Garching, Germany.
Solid additives have garnered significant attention due to their numerous advantages over liquid additives. This study explores the potential of the green-fluorescent conjugated polymer denoted Atums Green as a solid additive in green-solvent-based PBDB-TF-T1:BTP-4F-12 solar cells. Even tiny amounts of Atums Green doping significantly improve the device performance.
View Article and Find Full Text PDFJBJS Case Connect
January 2025
Department of Surgery, The Aga Khan University, Karachi, Pakistan.
Case: Thirty-five-year-old man presented with 14 cm segmental tibial defect after crush injury (Gustilo Anderson type-IIIA). Tetrafocal bone transport using Ilizarov frame was performed with 3 osteotomies. Two minor complications-skin invagination and failure at proximal docking site-were addressed.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!