Results 161 to 170 of about 55,561 (264)

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Validation of a Wearable Photoplethysmography-Based Sensor for Compensatory Reserve Measurement Monitoring in Simulated Human Hemorrhage. [PDF]

Sensors (Basel)
Gonzalez JM, Ortiz R, Amezcua KL, Bedolla C, Hernandez Torres SI, Weitzel EK, Gorantla VS, Li W, Aranyosi AJ, Rogers JA, Ghaffari R, Convertino VA, Snider EJ.   +12 more
europepmc   +1 more source

CnQuant: high-resolution chromosomal copy number profiling for precision oncology in the clinics. [PDF]

Acta Neuropathol
Freyter BM, Hultschig C, Brugger J, Bratic Hench I, Frank S, Hench J.   +5 more
europepmc   +1 more source

Applications and prospects of artificial intelligence and digital medicine in pediatric nasal skull base tumors

Pediatric Investigation, EarlyView.
Pediatric nasal skull base tumors present diagnostic and therapeutic challenges due to their deep location, nonspecific symptoms, and the narrow nasal cavity in children. Although artificial intelligence (AI) and digital medicine have advanced early diagnosis, multidisciplinary treatment, and prognosis, their application in these rare tumors remains ...
Xiuping Wu, Jing Wei, Chen Liu, Pengpeng Wang, Wentong Ge, Yang Han   +5 more
wiley   +1 more source

Advancing Real-World Evidence Generation: Growth and Lessons Learned from the Early Years of Cosmos

ACI Open
Meghan Howat, Steven Martell, Yasir Tarabichi, David C. Kaelber, Selina S. Chen, Harry Freedman   +5 more
doaj   +1 more source

When Science Outpaces Infrastructure: People, Process, and Technology Challenges for Precision Dosing in Children. [PDF]

Clin Transl Sci
Lewis T, Jessa K, Ivaturi V, Noack A, Aluthge DP, Müller-Widmann D, Capello K, Fong M, Miatello A, Barwick M.   +9 more
europepmc   +1 more source

Past, present and future of local crop evolution

PLANTS, PEOPLE, PLANET, EarlyView.
Promoting agrobiodiversity is a promising strategy for mitigating the negative effects of climate change on global food security. We highlight the central role evolutionary processes play in harnessing the potential of local crops by integrating genomics, archaeology, ethnobotany and traditional ecological knowledge (TEK).
Nataly Allasi Canales, Philippa Ryan, Amy Jackson, Hong Phuong Le, James Borrell, Aaron Davis, Rafal M. Gutaker   +6 more
wiley   +1 more source

The Evolving Landscape of Clinical Aging Clocks: From Epigenetic to Multi-Omics Integration. [PDF]

Aging Cell
Liu L, Lai Y, Tian C, Huang Y, Hao J, Zhao Y, Chen D, Wu T, Zhou D, Zheng X, Yang H, Yu Z, Li N, Yang J.   +13 more
europepmc   +1 more source

Using art history to explore society's changing connections with agriculture

PLANTS, PEOPLE, PLANET, EarlyView.
Food insecurity is a looming challenge that especially affects those least fortunate. Consumer food choices have a substantial impact on the sustainability of current food systems. Here, we use art as a lens through which to consider our contemporary and historical relationship to one of the world's most crucial crops, the potato, in the context of the
Edward F. Hill‐King, Martin R. McAinsh, Michael R. Roberts   +2 more
wiley   +1 more source