Results 231 to 240 of about 3,155,630 (345)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS. [PDF]

Commun Biol
Nakamura R, Tohnai G, Atsuta N, Matsuda Y, Morimoto S, Ito D, Katsuno M, Izumi Y, Morita M, Iwata I, Yabe I, Nakazato T, Hattori N, Hirayama T, Kano O, Tamura A, Suzuki N, Aoki M, Shibuya K, Kuwabara S, Oda M, Hashimoto R, Aiba I, Ishihara T, Onodera O, Yamashita T, Ishiura H, Bokuda K, Shimizu T, Ikeda Y, Hasegawa K, Tanaka F, Yokota T, Kanai K, Noto YI, Kaji R, Watanabe H, Konishi T, Hasegawa M, Fukaya H, Niwa JI, Doyu M, Okada Y, Nakamura S, Ozawa F, Okano H, Nakatochi M, Sobue G, Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group.   +48 more
europepmc   +1 more source

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

FEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz, Bart Geverts, Johan A. Slotman, Andrea Sacchetti, Stefan Prekovic, Martin E. van Royen, Adriaan B. Houtsmuller   +6 more
wiley   +1 more source

Genome-Wide Association Study of First-Parity Reproductive Traits in Suzi Pig. [PDF]

Genes (Basel)
Fu Y, Li W, Dai C, Liao C, Cheng J, Li H, Zhao W.   +6 more
europepmc   +1 more source

Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis

, 2013
Parker Magin, Albert V. Smith, Belinda K. Cornes, Gabriëlle H.S. Buitendijk, Richard A. Jensen, Xueling Sim, Thor Aspelund, Tin Aung, Paul N. Baird, Eric Boerwinkle, Ching‐Yu Cheng, Cornelia M. van Duijn, Guðný Eiríksdóttir, Vilmundur Guðnason, Tamara B. Harris, Alex W. Hewitt, Michael Inouye, Friðbert Jónasson, Barbara E.K. Klein, Lenore J. Launer, Xiaohui Li, Gerald Liew, Thomas Lumley, Patrick McElduff, Barbara McKnight, Paul Mitchell, Bruce M. Psaty, Elena Rochtchina, Jerome I. Rotter, Rodney J. Scott, Wan-Ting Tay, Kent D. Taylor, Yik Ying Teo, André G. Uitterlinden, Ananth C. Viswanathan, Sophia Xie, Johannes R. Vingerling, Caroline C. W. Klaver, E Shyong Tai, David S. Siscovick, Ronald Klein, Mary Frances Cotch, Tien Yin Wong, John Attia, Jie Jin Wang   +44 more
openalex   +2 more sources

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

FEBS Open Bio, EarlyView.
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid, Rapasviranda Soiyangsuk, Maneeluck Tanadjindarat, Chayanon Peerapittayamongkol   +3 more
wiley   +1 more source

Genome-Wide Association Study Dissects the Genetic Architecture of Pericarp Traits in Fresh-Eating Maize. [PDF]

Plants (Basel)
Jin Y, Gao S, He H, Zhao T, Yue Y, Yang X, Wang X.   +6 more
europepmc   +1 more source

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

FEBS Open Bio, EarlyView.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava, Anoop Saraya, Deepak Gunjan, Rinu Sharma   +3 more
wiley   +1 more source

Genome-Wide Association Study of Daughter Pregnancy Rate in Crossbred Dairy Cows. [PDF]

Int J Mol Sci
Yang R, Liang Z, Prakapenka D, Ma L, Da Y.   +4 more
europepmc   +1 more source

The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies [PDF]

, 2019
Danielle Hiam, Alba Moreno‐Asso, Helena Teede, Joop S.E. Laven, Nigel K. Stepto, Lisa Moran, Melanie Gibson‐Helm   +6 more
openalex   +1 more source