Results 201 to 210 of about 502,320 (296)

Erratum to "CNViz: An R/Shiny application for interactive copy number variant visualization in cancer" [Journal of Pathology Informatics Volume 13, 2022, 100089]. [PDF]

J Pathol Inform
Ramesh RG, Bigdeli A, Rushton C, Rosenbaum JN.   +3 more
europepmc   +1 more source

Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning. [PDF]

Nucleic Acids Res, 2022
Tan R, Shen Y.
europepmc   +1 more source

Early‐life high‐fat diet exposure increases Achilles tendon stiffness and induces transcriptomic alterations

FEBS Open Bio, EarlyView.
Early‐life exposure to a high‐fat diet altered intact Achilles tendons in rat offspring, making them thinner, stiffer, and molecularly distinct even without injury. These findings suggest that developmental high‐fat diet exposure may impair tendon quality and increase susceptibility to mechanical overload or tendon injury later in life.
Heyong Yin, Ziyang Yuan, Wenli Jiang, Ai Guo   +3 more
wiley   +1 more source

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease. [PDF]

Kidney Int Rep
Claus LR, Ernst RF, Elferink MG, van Deutekom HWM, van der Zwaag B, van Eerde AM.   +5 more
europepmc   +1 more source

Sudden anaerobization in Amphibacillus xylanus increases intracellular labile ferrous iron and inhibits cell growth

FEBS Open Bio, EarlyView.
Abruptly changing from aerobic to anaerobic conditions (sudden anaerobization) induced growth inhibition and a significant increase in intracellular labile ferrous iron in the aerotolerant anaerobe Amphibacillus xylanus. We found that free flavins mediate efficient electron transfer from NADH to ferric iron under anaerobic conditions, suggesting that ...
Shinya Kimata, Yoichi Sakai, Keisuke Tanaka, Etsuro Yoshimura, Ken Kitano, Morio Ishikawa, Tadahiro Nakamoto, Tsutomu Takayama, Hirofumi Inoue, Kaho Nomura, Tomonori Suzuki, Masataka Uchino, Akira Abe, Youichi Niimura   +13 more
wiley   +1 more source

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia. [PDF]

Int J Mol Sci
Ghorbani F, de Boer EN, Fokkens MR, de Boer-Bergsma J, Verschuuren-Bemelmans CC, Wierenga E, Kasaei H, Noordermeer D, Verbeek DS, Westers H, van Diemen CC.   +10 more
europepmc   +1 more source

Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes. [PDF]

Mol Syndromol, 2023
Kubota N, Takeda R, Kobayashi J, Hidaka E, Nishi E, Takano K, Wakui K.   +6 more
europepmc   +1 more source

Aquaporin‐3 and aquaporin‐5 impact the development of pancreatic ductal adenocarcinoma spheroids

FEBS Open Bio, EarlyView.
Schematic representation of the role of aquaporin‐3 (AQP3) and aquaporin‐5 (AQP5) in pancreatic ductal adenocarcinoma (PDAC). Both proteins are upregulated in PDAC and are associated with tumor progression and metastatic potential. Silencing AQP3 or AQP5 in PDAC spheroids results in decreased diameter, area, and overall growth, underscoring their key ...
Catarina Pimpão, Diogo M. Engrácia, Graça Soveral, Filipa Mendes   +3 more
wiley   +1 more source

Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank. [PDF]

NPJ Genom Med
Dinneen TJ, Ní Ghrálaigh F, Ormond C, Heron EA, Kirov G, Lopez LM, Gallagher L.   +6 more
europepmc   +1 more source

Natural Products as Geroprotective Modulators in Diabetic Nephropathy: A Mechanistic Framework Integrating Aging Hallmarks and the AMPK–SIRT1–Nrf2 Axis

Aging and Cancer, EarlyView.
Natural products target the aging kidney in diabetic nephropathy by restoring the AMPK–SIRT1–Nrf2 axis, reducing oxidative stress, inflammation, fibrosis, and cellular senescence while enhancing mitochondrial biogenesis and antioxidant defenses.
Sherif Hamidu, Latif Adams, Eunice Ampem‐Danso, Justice Kumi, Abigail Aning, Fatima Hamidu, Mustapha Abdul Mumin Mohammed, Ayuba Nii Darku Ankrah, Seth Kwabena Amponsah   +8 more
wiley   +1 more source