Results 191 to 200 of about 1,118,249 (314)

Transcripts enriched in codons that trigger P‐site tRNA‐mediated mRNA decay possess stable mRNA

FEBS Open Bio, EarlyView.
PTMD codons were first described by Mendel et al. as mediators of an mRNA decay pathway dependent on the human protein CNOT3, homologous to yeast Not5. Our findings confirm that PTMD codons destabilize transcripts; however, unlike in yeast, the human pathway specifically targets and slightly destabilizes primarily stable mRNAs.
Rodolfo Lopes Carneiro, Fernando Lucas Palhano   +1 more
wiley   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

Loss of AMBRA1 activates MAPK and angiogenesis signaling pathways in melanoma cells

FEBS Open Bio, EarlyView.
Loss of AMBRA1 in melanoma cells activates multiple oncogenic pathways associated with tumor progression. Transcriptomic and protein network analyses revealed that AMBRA1 depletion enhances MAPK/ERK signaling, angiogenesis, TGF‐β/EMT signaling, and Wnt/axon guidance pathways.
Milad Ibrahim, Marco Corazzari, Iman Osman, Jane Armstrong, Noel Carter   +4 more
wiley   +1 more source

Whole-genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases. [PDF]

NAR Genom Bioinform
Höjer P, Alneberg J, Lundin P, Martin T, Hauenstein J, Fällmar H, Lindell M, Natanaelsson C, Häggqvist S, Ameur A, Nordlund J, Månsson Welinder R.   +11 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

Initial sequencing and comparative analysis of the mouse genome

, 2002
CHIAROMONTE, FRANCESCA, International Mouse Genome Sequencing consortium including, Waterston R   +2 more
core  

Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Communications Biology
Eric Venner, Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi-Ju Chen, Sara E. Kalla, Bo Yuan, Jason H. Karnes, Kimberly Walker, Joshua D. Smith, Sean McGee, Aparna Radhakrishnan, Andrew Haddad, Philip E. Empey, Qiaoyan Wang, Lee Lichtenstein, Diana Toledo, Gail Jarvik, Anjene Musick, Richard A. Gibbs, on behalf of the All of Us Research Program Investigators   +20 more
doaj   +1 more source

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing. [PDF]

J Genet Couns
Hansen A, Luca S, Moran O, Babul-Hirji R, Coe TB, Wilk K, Assamad D, Fooks K, Venkataramanan V, Shickh S, Yan J, Wu V, Badalato L, Balci TB, Ladouceur VB, Chad L, Chisholm C, Gillespie MK, Huang L, Jarinova O, Lau L, Lee W, Mackley MP, Marshall CR, Mendoza-Londono R, Morel CF, Richer J, Sawyer S, Stavropoulos DJ, Szuto A, Tarnopolsky M, Villani A, Zahavich L, Somerville MJ, Boycott KM, Ungar WJ, Hayeems RZ.   +36 more
europepmc   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Rapid and precise amplicon-based genome sequencing to preparedness and response chikungunya virus outbreaks. [PDF]

Emerg Microbes Infect
Wang K, Li J, Liu T, Li P, Wang N, Liu Y, Liang Y, Li F, Wei C, Yan H, Li P.   +10 more
europepmc   +1 more source