Results 181 to 190 of about 860,476 (247)

Erratum: Host-virome associations in the weathering crust of a rapidly retreating temperate Alpine glacier. [PDF]

Microb Genom
Varliero G, Bauder A, Stierli B, Qi W, Frey B.   +4 more
europepmc   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine training. [PDF]

Hum Genomics
Wray C, Tobias ES, Kumar D, Ayub Q, Hamosh A, Lopes-Cendes I, Hernandez LBL, Hamed SA.   +7 more
europepmc   +1 more source

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

Correction: characteristics of insulin resistance in Korean adults from the perspective of circadian and metabolic sensing genes. [PDF]

Genes Genomics
Park MS, Lee S, Baek Y, Lee J, Park SS, Cho JH, Jin HJ, Yoo HR.   +7 more
europepmc   +1 more source

Big Data in Genomics: Ethical Challenges and Risks

, 2017
Marc Vía
openalex   +2 more sources

TMC4 localizes to multiple taste cell types in the mouse taste papillae

FEBS Open Bio, EarlyView.
Transmembrane channel‐like 4 (TMC4), a voltage‐dependent chloride channel, plays a critical role in amiloride‐insensitive salty taste transduction. TMC4 is broadly expressed in all mature taste cell types, suggesting a possible involvement of multiple cell types in this pathway.
Momo Murata, Yoshikazu Saito, Yoichi Kasahara, Wataru Fujii, Takumi Misaka, Tomiko Asakura, Masataka Narukawa   +6 more
wiley   +1 more source

Evaluation of the Integration of Genetics and Genomics Into Nursing Practice. [PDF]

J Nurs Scholarsh
Calzone K, Stokes L, Peterson C, Yee LM, Liewehr D, Badzek L.   +5 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

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