Results 291 to 300 of about 3,800,975 (380)

Hemodynamic subphenotypes in septic shock and their different responses to fluid balance in relation to ICU mortality. [PDF]

BMC Anesthesiol
Chen Y, Liufu R, Dong R, Cao MM, Peng JM, Wang CY, Jiang W, Hu XY, Li S, Weng L, Du B.   +10 more
europepmc   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.

, 2011
Huiqin Yang, Xueshan Xiao, Shiqiang Li, Guiying Mai, Qingjiong Zhang   +4 more
openalex   +1 more source

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines [PDF]

Cristina Fortuño, Kyriaki Michailidou, Michael T. Parsons, Jill S. Dolinsky, Tina Pesaran, Amal Yussuf, Jessica L. Mester, Kathleen S. Hruska, Susan Hiraki, Robert O’Connor, Raymond C. Chan, Serra Kim, Sean V. Tavtigian, David E. Goldgar, Paul A. James, Amanda B. Spurdle   +15 more
openalex   +1 more source

Tumor‐stromal crosstalk and macrophage enrichment are associated with chemotherapy response in bladder cancer

FEBS Open Bio, EarlyView.
Chemoresistance in bladder cancer: Macrophage recruitment associated with CXCL1, CXCL5 and CXCL8 expression is characteristic of Gemcitabine/Cisplatin (Gem/Cis) Non‐Responder tumors (right side) while Responder tumors did not show substantial tumor‐stromal crosstalk (left side). All biological icons are attributed to Bioicons: carcinoma, cancerous‐cell‐
Sophie Leypold, Janik Riese, Lancelot Seillier, Mark Kühnel, Julia Pannhausen, Charlotte O. J. Fröhlich, Christian Martin, Peter Boor, Matthias Saar, Danny D. Jonigk, Nadine T. Gaisa, Michael Rose   +11 more
wiley   +1 more source

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience. [PDF]

Mol Genet Genomic Med
Lin HH, Tsai MM, Chen HA, Hsu RH, Lin YS, Lin YL, Hsu C, Chien YH, Hwu WL, Lee NC.   +9 more
europepmc   +1 more source

CD56neg CD16+ cells represent a distinct mature NK cell subset with altered phenotype and are associated with adverse clinical outcome upon expansion in AML [PDF]

Julia Wlosik, Florence Orlanducci, Manon Richaud, Clémence Demerle, Amira Ben Amara, Marie-Sarah Rouviére, Philippe Livrati, Laurent Gorvel, Marie‐Anne Hospital, Nicolas Dulphy, Raynier Devillier, Norbert Vey, Daniel Olive   +12 more
openalex   +1 more source

Phenotype-Specific Treatment of Heart Failure With Preserved Ejection Fraction: A Multiorgan Roadmap

Circulation, 2016
Sanjiv J. Shah, D. Kitzman, B. Borlaug, L. van Heerebeek, M. Zile, D. Kass, W. Paulus   +6 more
semanticscholar   +1 more source

The role of lipid metabolism in neuronal senescence

FEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari, Eleftheria Panagiotidou, Nektarios Tavernarakis   +2 more
wiley   +1 more source

Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious <i>SCN5A</i> Variants. [PDF]

Int J Mol Sci
Martínez-Barrios E, Cruzalegui J, Hidalgo-Sanuy M, Greco A, Cesar S, Chipa F, Díez-Escuté N, Cerralbo P, Zschaeck I, Merchán F, Mejia SB, Brugada J, Campuzano O, Sarquella-Brugada G.   +13 more
europepmc   +1 more source