Results 161 to 170 of about 162,786 (255)

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. [PDF]

NPJ Genom Med
Hahn E, Dharmadhikari AV, Markowitz AL, Estrine D, Quindipan C, Maggo SDS, Sharma A, Lee B, Maglinte DT, Shams S, Deardorff MA, Biegel JA, Gai X, Sun M, Schmidt RJ, Raca G, Ji J.   +16 more
europepmc   +1 more source

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

Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant. [PDF]

Nucleic Acids Res
Lemée MV, Loviglio MN, Ye T, Tilly P, Keime C, Weber C, Petrova A, Klein P, Morlet B, Wendling O, Jacobs H, Tharreau M, Geneviève D, Godin JD, Romier C, Duteil D, Golzio C.   +16 more
europepmc   +1 more source

Hyperosmotic stress‐induced redistribution of pre‐mRNA cleavage factor I subunits is associated with shifts in alternative polyadenylation

FEBS Open Bio, EarlyView.
Hyperosmotic stress triggers the relocation of the CFIm complex from the nucleus to the cytoplasm. This shift creates a nuclear ‘stoichiometric bottleneck’, limiting CFIm availability for mRNA processing. Consequently, specific mRNAs like NUDT21 and DICER1 undergo targeted 3′UTR shortening, demonstrating how spatial protein dynamics drive rapid ...
Hitomi Soumiya, Masatake Osawa, Hidefumi Fukumitsu   +2 more
wiley   +1 more source

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications. [PDF]

Bioinform Adv
De La Vega FM, Irvine SA, Anur P, Potts K, Kraft L, Torres R, Kang P, Truong S, Lee Y, Han S, Onuchic V, Han J.   +11 more
europepmc   +1 more source

Polishing copy number variant calls on exome sequencing data via deep learning. [PDF]

Genome Res, 2022
Özden F, Alkan C, Çiçek AE.
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

CNVoyant a machine learning framework for accurate and explainable copy number variant classification. [PDF]

Sci Rep
Schuetz RJ, Ceyhan D, Antoniou AA, Chaudhari BP, White P.   +4 more
europepmc   +1 more source

Effects of IGFBP4 deficiency on human preadipocyte proliferation and differentiation through the IGF1R/AKT pathway

FEBS Open Bio, EarlyView.
IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo, Sandy Richter, Christoph Bach, Wieland Kiess, Anna Kirstein, Diana Le Duc, Antje Garten   +6 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