Results 201 to 210 of about 1,816,562 (311)

Conditions Enabling the Persistence of Cooperating Synthetase, Ligase, and Mutation-Inhibitor Catalytic Polymers. [PDF]

J Mol Evol
Peng Z, Plum AM, Kartha R, Jacobson EM, Baum DA.   +4 more
europepmc   +1 more source

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration. [PDF]

Front Cardiovasc Med
Zhang S, Huang W, Chen H, Mu N, Chang L, Zhu B, Zhang J, Chan Y.   +7 more
europepmc   +1 more source

A novel quinazolinone insulin receptor inhibitor and its synergy with an EGFR inhibitor in glucose‐driven glioblastoma

Molecular Oncology, EarlyView.
The novel styrylquinazolinone‐based molecule W1B effectively suppresses glioblastoma by inhibiting IGF1R and EGFR. In high‐glucose microenvironments driving tumor resistance, W1B acts synergistically with the EGFR inhibitor dacomitinib. This combination safely blocks compensatory survival signaling in zebrafish xenograft models. Showcasing promising in
Patryk Rurka, Wioleta Cieślik, Wojciech Płaziński, Katarzyna Stępnik, Anna Boguszewska‐Czubara, Elżbieta Kot, Robert Musioł, Mateusz Jasica, Anna Mrozek‐Wilczkiewicz, Katarzyna Malarz   +9 more
wiley   +1 more source

Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome. [PDF]

Hum Mutat
Li L, Song J, Qin M, Zhou S, Liu J, Zheng G.   +5 more
europepmc   +1 more source

Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization

Molecular Oncology, EarlyView.
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu, Nicolas J. Niklaus, Anna M. Schläfli, Igor Tokarchuk, Magali Humbert, Federico La Manna, Bich Vu, David Maul, Ramin Radpour, Marianna Kruithof‐de Julio, Inti Zlobec, Jörn Dengjel, Bruce E. Torbett, Mario P. Tschan   +13 more
wiley   +1 more source

Mucopolysaccharidosis IIID and Beta-Mannosidosis in Brazilian Anglo-Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program. [PDF]

Anim Genet
Bezerra FCM, Belli LSBP, Novais JMCB, Ibelli AMG, Santos CRO, Gouveia GV, Macedo ATM, Gouveia JJS.   +7 more
europepmc   +1 more source

Liquid biopsy‐based diagnostic evaluation of hypermethylated CpG sites for ovarian cancer diagnosis

Molecular Oncology, EarlyView.
This schematic outlines the workflow from biomarker identification to duplex MethyLight assay validation for epithelial ovarian cancer diagnosis using cfDNA‐based liquid biopsy. Initial screening of hypermethylated CpG candidates (cg02957270, cg10061138 cg00480298, COL2A1) was performed in tissue using ARMS‐PCR, COBRA, qPCR and image analysis. Selected
Deepa Bisht, Sameer Gupta, Amrita Chaurasia, Manisha Sachan   +3 more
wiley   +1 more source

APC mutations [PDF]

Nature, 1992
openaire   +2 more sources

TP53 Mutations Unfavorably Impact the Outcomes of Myelofibrosis Patients with or Without Hematopoietic Stem Cell Transplantation: A Single-Center Study and Meta-Analysis. [PDF]

Int J Mol Sci
Frioni F, Giammarco S, Ceglie S, Betti S, Ramundo F, Marra J, Rossi M, Fosso F, Minnella G, Metafuni E, Sorà F, Bacigalupo A, Sica S, Rossi E, De Stefano V, Chiusolo P.   +15 more
europepmc   +1 more source