Results 81 to 90 of about 731,846 (342)

A Regulatory Circuitry Between Gria2, miR-409, and miR-495 Is Affected by ALS FUS Mutation in ESC-Derived Motor Neurons [PDF]

, 2018
Mutations in fused in sarcoma (FUS) cause amyotrophic lateral sclerosis (ALS). FUS is a multifunctional protein involved in the biogenesis and activity of several types of RNAs, and its role in the pathogenesis of ALS may involve both direct effects of
Biscarini, Silvia, Bozzoni, Irene, Caffarelli, Elisa, Capauto, Davide, Colantoni, Alessio, Laneve, Pietro, Lu, Lei, Morlando, Mariangela, Peruzzi, Giovanna, Santini, Tiziana, Shneider, Neil A.   +10 more
core   +2 more sources

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. [PDF]

PLoS ONE, 2011
A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome).
Ute Philipp, Bettina Lupp, Stefanie Mömke, Veronika Stein, Andrea Tipold, Johanna Corinna Eule, Jürgen Rehage, Ottmar Distl   +7 more
doaj   +1 more source

The Effect of Distinct Geometric Semantic Crossover Operators in Regression Problems [PDF]

, 2015
This paper investigates the impact of geometric semantic crossover operators in a wide range of symbolic regression problems. First, it analyses the impact of using Manhattan and Euclidean distance geometric semantic crossovers in the learning process ...
Albinati, Julio, Oliveira, Luiz Otávio V.B., Otero, Fernando E.B., Pappa, Gisele L.   +3 more
core   +1 more source

Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome [PDF]

, 2021
Jianmin Liang, Cuijuan Xin, Guang-Liang Wang, Xuemei Wu   +3 more
openalex   +1 more source

Survivin and Aurora Kinase A control cell fate decisions during mitosis

Molecular Oncology, EarlyView.
Aurora A interacts with survivin during mitosis and regulates its centromeric role. Loss of Aurora A activity mislocalises survivin, the CPC and BubR1, leading to disruption of the spindle checkpoint and triggering premature mitotic exit, which we refer to as ‘mitotic slippage’.
Hana Abdelkabir, Shalitha Wickrama Arachchige, Sally P. Wheatley   +2 more
wiley   +1 more source

Improving PARP inhibitor efficacy in bladder cancer without genetic BRCAness by combination with PLX51107

Molecular Oncology, EarlyView.
Clinical trials on PARP inhibitors in urothelial carcinoma (UC) showed limited efficacy and a lack of predictive biomarkers. We propose SLFN5, SLFN11, and OAS1 as UC‐specific response predictors. We suggest Talazoparib as the better PARP inhibitor for UC than Olaparib.
Jutta Schmitz, Anna L. Bartkowiak, Michael Rose, Nora Kolks, Patrick Petzsch, Vandana Solanki, Anne Stoffel, Bianca Faßbender, Leandra Lepping, Julka Volkamer, Karl Köhrer, Marc Seifert, Tokameh Mahmoudi, Tahlita C. M. Zuiverloon, Günter Niegisch, Michèle J. Hoffmann   +15 more
wiley   +1 more source

Correction: Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses

PLOS Genetics, 2019
[This corrects the article DOI: 10.1371/journal.pgen.1002653.].
Hauswirth, Regula, Haase, Bianca, Blatter, Marlis, Brooks, Samantha A, Burger, Dominik Cyrill, Drögemüller, Cord, Gerber, Vinzenz, Henke, Diana, Janda, Jozef, Jude, Rony, Magdesian, K Gary, Matthews, Jacqueline M, Poncet, Pierre-André, Svansson, Vilhjálmur, Tozaki, Teruaki, Wilkinson-White, Lorna, Penedo, M Cecilia T, Rieder, Stefan, Leeb, Tosso   +18 more
openaire   +3 more sources

Cytoplasmic p21 promotes stemness of colon cancer cells via activation of the NFκB pathway

Molecular Oncology, EarlyView.
Cytoplasmic p21 promotes colorectal cancer stem cell (CSC) features by destabilizing the NFκB–IκB complex, activating NFκB signaling, and upregulating BCL‐xL and COX2. In contrast to nuclear p21, cytoplasmic p21 enhances spheroid formation and stemness transcription factor CD133.
Arnatchai Maiuthed, Kerstin Huebner, Katharina Erlenbach‐Wuensch, Chuanpit Hampel, Daniela Thalheim, Adriana Vial‐Roehe, Bodee Nutho, Susanne Merkel, Arndt Hartmann, Pithi Chanvorachote, Regine Schneider‐Stock   +10 more
wiley   +1 more source

Mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades: An analytical study

Saudi Journal of Medicine and Medical Sciences, 2019
Background: Endometrial carcinoma is a predominant health problem for women worldwide. However, there is a lack of data on genetic mutation frequencies in endometrial cancer patients of different ethnicities and tumor grades.
Mohammad A Althubiti
doaj   +1 more source