Results 111 to 120 of about 1,291,510 (266)

O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Genetics in Medicine Open
Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli   +11 more
doaj   +1 more source

Engineering IL‐4 resistant proinflammatory human myeloid cells for cancer immunotherapy

Molecular Oncology, EarlyView.
We developed a scalable workflow to generate proinflammatory human myeloid cells. CRISPR/Cas9‐edited CD34+ hematopoietic stem and progenitor cells were expanded and differentiated with M‐CSF. Deletion of STAT6 or STAT6/NFKB1 enhanced macrophage proinflammatory gene expression and cytokine secretion in the presence of IL‐4 while maintaining antibody ...
Theresa Barberi, Alan D. Friedman
wiley   +1 more source

P023: Using genomic databases to estimate rare disease prevalence: Application to disorders of propionyl-CoA oxidation

Genetics in Medicine Open
Jennifer Sloan, Camryn Hall, Irini Manoli, Charles Venditti   +3 more
doaj   +1 more source

The effect of microgravity and flows on the organization and dynamics of the human genome. [PDF]

Sci Adv
Kanellakopoulos N, Patel M, Sato B, Lawrence M, Ristroph L, Zidovska A.   +5 more
europepmc   +1 more source

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

Molecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara, Kosuke Murakami, Shiro Takamatsu, Akiko Kanto, Seiichi Mori, Tomoyuki Otani, Kazuko Sakai, Yasushi Kotani, Kazuto Nishio, Kaoru Abiko, Noriomi Matsumura   +10 more
wiley   +1 more source

Genomic indicators of gene function: a systematic assessment of the human genome. [PDF]

G3 (Bethesda)
Cooper HB, Rojas López KE, Schiavinato D, Black MA, Gardner PP.   +4 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

Evolution of CTCF binding sites in the human genome. [PDF]

Mol Biol Evol
Zhu K, Zhuo J, Zhen Y.
europepmc   +1 more source

Directed evolution of enzymes at the crossroads of tradition and innovation

FEBS Open Bio, EarlyView.
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova, Andrej Mirossay, Erik Sedlak   +2 more
wiley   +1 more source

Egalitarian Justice and the Prevalence Principle in Human Genome Editing. [PDF]

J Med Philos
MacKay D, Cadigan RJ, Juengst E, Robinson A, Walker RL.   +4 more
europepmc   +1 more source