Results 71 to 80 of about 282,788 (245)

Single‐cell polyadenylation site mapping reveals 3′ isoform choice variability

Molecular Systems Biology, 2015
Cell‐to‐cell variability in gene expression is important for many processes in biology, including embryonic development and stem cell homeostasis. While heterogeneity of gene expression levels has been extensively studied, less attention has been paid to
Lars Velten, Simon Anders, Aleksandra Pekowska, Aino I Järvelin, Wolfgang Huber, Vicent Pelechano, Lars M Steinmetz   +6 more
doaj   +1 more source

In vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila.

PLoS ONE, 2014
The proper control of tissue growth is essential during normal development and an important problem in human disease. Merlin, the product of the Neurofibromatosis 2 tumor suppressor gene, has been extensively studied to understand its functions in growth
Heather S Gavilan, Rima M Kulikauskas, David H Gutmann, Richard G Fehon   +3 more
doaj   +1 more source

ATG4B is required for mTORC1‐mediated anabolic activity and is associated with clinical outcomes in non‐small cell lung cancer

FEBS Open Bio, EarlyView.
The relationship between anabolic and catabolic processes governing lung cancer cell growth is nuanced. We show that ATG4B, an autophagy regulator, is elevated in lung cancer and that high ATG4B is associated with worse patient outcomes. Targeting ATG4B in cells reduces growth, protein synthesis, and mTORC1 activity, demonstrating a new relationship ...
Patrick J. Ryan, Bethany C. Guerra, Selina Uranga, Jessica M. Cardin, Steven E. Riechman, Mariana Janini Gomes, James D. Fluckey   +6 more
wiley   +1 more source

Differential expression of a new isoform of DLG2 in renal oncocytoma

BMC Cancer, 2006
Background Renal oncocytoma, a benign tumour of the kidney, may pose a differential diagnostic problem due to overlapping phenotype with chromophobe renal cell carcinoma or other types of renal cell tumours. Therefore, identification of molecular markers
Kovacs Gyula, Stupar Zorica, Zubakov Dmitry   +2 more
doaj   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

TMC4 localizes to multiple taste cell types in the mouse taste papillae

FEBS Open Bio, EarlyView.
Transmembrane channel‐like 4 (TMC4), a voltage‐dependent chloride channel, plays a critical role in amiloride‐insensitive salty taste transduction. TMC4 is broadly expressed in all mature taste cell types, suggesting a possible involvement of multiple cell types in this pathway.
Momo Murata, Yoshikazu Saito, Yoichi Kasahara, Wataru Fujii, Takumi Misaka, Tomiko Asakura, Masataka Narukawa   +6 more
wiley   +1 more source

An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity

Nature Communications
Despite major advances in linking single genetic variants to single causal genes, the significance of genetic variation on transcript-level regulation of expression, transcript-specific functions, and relevance to human disease has been poorly ...
Dominik Aschenbrenner, Isar Nassiri, Suresh Venkateswaran, Sumeet Pandey, Matthew Page, Lauren Drowley, Martin Armstrong, Subra Kugathasan, Benjamin Fairfax, Holm H. Uhlig   +9 more
doaj   +1 more source

SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1

FEBS Open Bio, EarlyView.
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl, Khawar Amin, Lydia Gabriel, Nils Hampel, Afshin Iram, Julia Hesse, Constanze Wiek, Jasmin Thuy Vy Nguyen, Helmut Hanenberg, Jürgen Scheller, M. Reza Ahmadian, Björn Stork, Doreen M. Floss, Roland P. Piekorz   +13 more
wiley   +1 more source

Evaluation of in vitro toxicity of common phytochemicals included in weight loss supplements using 1H NMR spectroscopy

FEBS Open Bio, EarlyView.
We investigated the toxicity of 12 active compounds commonly found in herbal weight loss supplements (WLS) using human liver and colon cell models. Epigallocatechin‐3‐gallate was the only compound showing significant toxicity. Metabolic profiling revealed protein degradation, disrupted energy and lipid metabolism suggesting that the inclusion of EGCG ...
Emily C. Davies, Garth L. Maker, Ian F. Musgrave, Samantha Lodge   +3 more
wiley   +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