Results 191 to 200 of about 254,836 (309)

rDNA Copy Number Variation and Methylation in Human and Mouse Sperm. [PDF]

Int J Mol Sci
Potabattula R, Dittrich M, Hahn T, Schorsch M, Ptak GE, Haaf T.   +5 more
europepmc   +1 more source

IMGT® analysis of the human IGH locus: unveiling novel polymorphisms and copy number variations in 15 genome assemblies from diverse ancestral backgrounds

Ariadni Papadaki, Maria Georga, Joumana Jabado-Michaloud, Géraldine Folch, Guilhem Zeitoun, Patrice Duroux, Véronique Giudicelli, Sofia Kossida   +7 more
openalex   +1 more source

Differential regulation of ZFAS1 splice variants by endoplasmic reticulum stress in hepatocyte cell lines

FEBS Open Bio, EarlyView.
ZFAS1 is a lncRNA promoting cell proliferation and migration, exhibiting high expression in various cancers. It is conserved, widely expressed, and produces multiple splice variants with unclear roles. We identified several splice variants in hepatocyte models, and found that inhibiting or suppressing regulators of the unfolded protein response (PERK ...
Sébastien Soubeyrand, Paulina Lau, Ruth McPherson   +2 more
wiley   +1 more source

Genome-wide methylation and copy number variation analysis of medulloblastoma in a Saudi Arabian pediatric population. [PDF]

Ann Med Surg (Lond)
AlKofide A, Arabi T, Ahmed AA, Al-Hindi H, Ayas M, Alshail E, Mohammed V, Sabbah BN, Asharf N, Dabaliz A, Ouban A.   +10 more
europepmc   +1 more source

Investigating the impact of multiallelic copy number variation on disease-relevant traits in UK and African populations

Micaela T. Eisenberg
openalex   +1 more source

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Establishing a prognostic threshold for total copy number variation within adult IDH-mutant grade II/III astrocytomas

Acta Neuropathologica Communications, 2019
Kanish Mirchia, Matija Snuderl, Kristyn Galbraith, Kimmo J. Hatanpaa, Jamie M. Walker, Timothy E. Richardson   +5 more
doaj   +1 more source

Phenotypic tolerance for rDNA copy number variation within the natural range of C. elegans. [PDF]

PLoS Genet
Hall AN, Morton EA, Walters R, Cuperus JT, Queitsch C.   +4 more
europepmc   +1 more source

C2α‐carbanion‐protonating glutamate discloses tradeoffs between substrate accommodation and reaction rate in actinobacterial 2‐hydroxyacyl‐CoA lyase

FEBS Open Bio, EarlyView.
Enzymes of the 2‐hydroxyacyl‐CoA lyase group catalyze the condensation of formyl‐CoA with aldehydes or ketones. Thus, by structural adaptation of active sites, practically any pharmaceutically and industrially important 2‐hydroxyacid could be biotechnologically synthesized. Combining crystal structure analysis, active site mutations and kinetic assays,
Michael Zahn, Barbara Seroka, Ryszard Lazny, Zenon Lotowski, Thore Rohwerder   +4 more
wiley   +1 more source

Copy number variation at the complement C4 locus is associated with risk for multiple sclerosis. [PDF]

Mult Scler
Williams J, Marin WM, Wade KJ, Suseno R, Kizer K, Caillier S, Augusto DG, Norman PJ, Hollenbach JA.   +8 more
europepmc   +1 more source