Results 111 to 120 of about 33,965 (276)

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

Ataxia-telangiectasia Mutated (ATM)-dependent Activation of ATR Occurs through Phosphorylation of TopBP1 by ATM [PDF]

, 2007
ATM (ataxia-telangiectasia mutated) is necessary for activation of Chk1 by ATR (ATM and Rad3-related) in response to double-stranded DNA breaks (DSBs) but not to DNA replication stress. TopBP1 has been identified as a direct activator of ATR.
Dunphy, William G., Kumagai, Akiko, Shevchenko, Andrej, Shevchenko, Anna, Yoo, Hae Yong   +4 more
core   +3 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress [PDF]

, 2015
The MRE11/RAD50/NBS1 (MRN) complex is a major sensor of DNA double strand breaks, whose role in controlling faithful DNA replication and preventing replication stress is also emerging. Inactivation of the MRN complex invariably leads to developmental and/
A Dupre, A Gulino, A Kuzyk, A Shibata, A Soriani, A Wey, A Wey, AM Duursma, AM Taylor, B Argenti, B Ricci, B Shiotani, BR Stanton, C Bruhn, C Heil, CJ Thiele, CL Marcelis, D Dominguez-Sola, D Fruci, DW Felsher, EA Rahal, F Sardina, G Giannini, G Giannini, H van Bokhoven, HE Bryant, I Screpanti, J Buis, J Charron, J Lafrance-Vanasse, J Wu, K Schlacher, K Trenz, KA Cole, KH Chrzanowska, KK To, L Di Marcotullio, LJ Valentijn, M Cognet, M Murga, M Petroni, M Petroni, M Sahún-Roncero, M Wilda, M Wojewodzka, O Chayka, P Khongkow, PE Neiman, PJ Hurlin, PO Frappart, PS Knoepfler, R Moser, R Thompson, R Waltes, RS Williams, RV Pusapati, S Albini, S Biton, S Ray, S Rohban, S Sawai, S Ying, SV Srinivasan, TG Oliver, TH Stracker, V Colicchia, V Veschi, V Veschi, W Lutz, YC Chiang, YL Lin   +70 more
core   +1 more source

Impact of organic pollutants on phenotype and gene expression in human breast cancer cells

Journal of Applied Toxicology, EarlyView.
ABSTRACT Human exposure to industrial chemical compounds is widespread and, although often beneficial, prolonged contact may contribute to disease development, including cancer. While many studies have shown organic pollutants (OP) are cytotoxic, few have explored how long‐term exposure alters cell phenotype.
Camila Confortin, Heloisa Amancio, Jessica Zablocki da Luz, Aliciane de Almeida Roque, Tugstênio Lima de Souza, José Eduardo Vargas, Ciro Alberto de Oliveira Ribeiro, Francisco Filipak Neto   +7 more
wiley   +1 more source

The one‐carbon metabolic enzyme MTHFD2 promotes resection and homologous recombination after ionizing radiation

Molecular Oncology
The one‐carbon metabolism enzyme bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 (MTHFD2) is among the most overexpressed proteins across tumors and is widely recognized as a promising anticancer target.
Petra Marttila, Nadilly Bonagas, Christina Chalkiadaki, Hannah Stigsdotter, Korbinian Schelzig, Jianyu Shen, Crystal M. Farhat, Amber Hondema, Julian Albers, Elisée Wiita, Azita Rasti, Ulrika Warpman Berglund, Ana Slipicevic, Oliver Mortusewicz, Thomas Helleday   +14 more
doaj   +1 more source

Reverse engineering of drug induced DNA damage response signalling pathway reveals dual outcomes of ATM kinase inhibition [PDF]

, 2013
The DNA Damage Response (DDR) pathway represents a signalling mechanism that is activated in eukaryotic cells following DNA damage and comprises of proteins involved in DNA damage detection, DNA repair, cell cycle arrest and apoptosis.
Bown, James L., Idowu, Michael A., Khalil, Hilal S., Zhelev, Nikolai   +3 more
core   +3 more sources

BMI and Breast Subcutaneous Fat

Journal of Ultrasound in Medicine, EarlyView.
Objectives Obesity is closely associated with the occurrence and progression of breast cancer. While body mass index (BMI) is widely used to diagnose obesity, it has certain limitations. Subcutaneous fat thickness (SFT) also serves as an indicator of body composition. However, studies on breast SFT are scarce.
Shiyu Wang, Jin Zhou, Yunxia Huang, Dongdong Zheng, Ruoqing Hou, Shichong Zhou   +5 more
wiley   +1 more source

Loss of ATM kinase activity leads to embryonic lethality in mice [PDF]

, 2012
Ataxia telangiectasia (A-T) mutated (ATM) is a key deoxyribonucleic acid (DNA) damage signaling kinase that regulates DNA repair, cell cycle checkpoints, and apoptosis.
Adams, André Nussenzweig, Baeck-Seung Lee, Bakkenist, Banin, Barlow, Barone, Barry P. Sleckman, Beli, Bensimon, Bouwman, Bredemeyer, Brown, Bryant, Buis, Bunting, Bunting, Callén, Callén, Canman, Cao, Cuadrado, Daniel, Darius Filsuf, Davis, Demuth, Difilippantonio, Difilippantonio, Difilippantonio, Dimitrova, Elson, Gapud, Gilad, Gladdy, Gurley, Hickson, Huber, Jacquemin, Jazayeri, Jeremy A. Daniel, Kennedy, Kozlov, Kozlov, Lakin, Lavin, Lee, Li, Lionel Feigenbaum, Lumsden, López-Contreras, Manuela Pellegrini, Matsuoka, McCabe, Micol, Myers, Ménisser-de Murcia, Natalya V. Belkina, Nussenzweig, Okkenhaug, Olsen, Ozeri-Galai, Pan, Pellegrini, Pierce, Rainey, Reina-San-Martin, Rickert, Savitsky, Sekiguchi, Shiloh, So, Srinivas, Stavnezer, Stracker, Tanya T. Paull, Taylor, Uziel, Ward, White, Williams, Xie, Xu, Yang, You, You, Zha, Zhang, Zhi Guo, Zhongsheng You   +88 more
core   +2 more sources

HMGB1 Assists in Overcoming Cisplatin Resistance in Chemoresistant Human Ovarian Cancer Cells

Molecular Carcinogenesis, EarlyView.
ABSTRACT Cisplatin is one of the most effective chemotherapeutic agents used in the treatment of ovarian cancer. However, the frequent development of cisplatin resistance remains a significant limitation, leading to therapeutic failure and poor patient outcomes.
Van Huynh, Guliang Wang, Anirban Mukherjee, Karen M. Vasquez   +3 more
wiley   +1 more source