Results 251 to 260 of about 11,305,394 (400)

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

Characterization of HERV-K (HML-2) Rec proteins encoded in the human genome and their post-transcriptional function. [PDF]

J Virol
Zurowska K, Dzhivhuho G, Grabski D, Rekosh D, Hammarskjold M-L.   +4 more
europepmc   +1 more source

Detection of large-scale variation in the human genome

Nature Genetics, 2004
A. J. Iafrate, A. J. Iafrate, L. Feuk, Miguel Rivera, Miguel Rivera, M. Listewnik, Patricia K. Donahoe, Y. Qi, Stephen W. Scherer, Charles Lee, Charles Lee   +10 more
semanticscholar   +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

The impact of the three major human genome editing reports on the governance landscape. [PDF]

J Community Genet
Conley J, Robinson A, Wilson R, Kuczynski K, Henderson G.   +4 more
europepmc   +1 more source

Genome Engineering of Primary Human B Cells Using CRISPR/Cas9

, 2020
Kanut Laoharawee, Matthew J. Johnson, Walker S. Lahr, Joseph J. Peterson, Beau R. Webber, Branden S. Moriarity   +5 more
openalex   +2 more sources

Comparative Genome Mapping in the Sequence-based Era: Early Experience with Human Chromosome 7 [PDF]

, 2000
James W. Thomas, Tyrone J. Summers, Shih-Queen Lee-Lin, Valerie V. Maduro, Jacquelyn R. Idol, Stephen D. Mastrian, Joseph F. Ryan, D. Curtis Jamison, Eric D. Green   +8 more
openalex   +1 more source

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

DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome. [PDF]

Int J Mol Sci
Zemlianaia OA, Kalinkin AI, Tanas AS, Efremova AV, Volodin IV, Ismagilova OR, Smirnov AS, Zaletaev DV, Nemtsova MV, Kutsev SI, Strelnikov VV.   +10 more
europepmc   +1 more source

Large-scale identification of novel transcripts in the human genome [PDF]

, 2007
Brock A. Peters, Brad St. Croix, Tobias Sjöblom, Jordan M. Cummins, Natalie Silliman, Janine Ptak, Saurabh Saha, Kenneth W. Kinzler, Christos Hatzis, Victor E. Velculescu   +9 more
openalex   +1 more source