Results 61 to 70 of about 8,375 (152)
Identification of cytosolic proteins that bind to the Fanconi anemia complementation group C polypeptide in vitro. Evidence for a multimeric complex.
The Journal of biological chemistry, 1995 The oligomeric structure of Fanconi anemia complementation group C (FACC) was investigated in mammalian cell lysates. Using an affinity-purified polyclonal antibody, FACC was immunoprecipitated from radiolabeled cell lysates and shown to form monomers of 63 kDa.H, Youssoufian, A D, Auerbach, P C, Verlander, V, Steimle, B, Mach +4 moreopenaire +1 more sourceFANCD2 associated with sporadic breast cancer risk [PDF]
, 2010 Several components of the Fanconi anaemia (FA) family of proteins allow the formation of the DNA repair complex foci formed by proteins such as BRCA1/2 and RAD51.Arias, J.I. (José), Barroso, Eva, Benítez, Javier, Fernández, L.P., Milne, R.L. (Roger), Ribas, Gloria, Zamora, Pilar +6 morecore A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population
Human Mutation, Volume 2026, Issue 1, 2026.Background
Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. Objectives
This review is aimed at summarizing gene mutations and variants associated with IBDs in the Saudi population to enhance diagnosis and personalized care. Methods
Published Nancy S. Younis, Rahma M. Alkabsh, Shahad M. Nasser Alqahtani, Hajer Aljuail, Manar A. Alhashim, Shahad A. Bokhamsin, Layla J. Albaqshi, Salsabil F. Alqadhib, Jumanah A. Aldandan, Zahra A. Alshakhs, Maryam H. Altaweel, Maged E. Mohamed, Priya Gusain +12 morewiley +1 more sourceMechanism and disease-association of E2 conjugating enzymes:lessons from UBE2T and UBE2L3 [PDF]
, 2016 Ubiquitin signalling is a fundamental eukaryotic regulatory system, controlling diverse cellular functions. A cascade of E1, E2, and E3 enzymes is required for assembly of distinct signals, whereas an array of deubiquitinases and ubiquitin-binding ...Alfano, Ali, Alpi, Alpi, Alter, Arno F. Alpi, Benirschke, Berndsen, Bogliolo, Boisson, Boisson, Brzovic, Buetow, Burroughs, Cantor, Ceccaldi, Charan, Chaugule, Chiu, Chong, Christensen, Christensen, Ciccia, Clague, Clague, Cole, Cook, Corson, Das, Das, Dawson, Devine, Dorsman, Dou, Dou, Dove, Dubois, Duda, Duxin, Eddins, Eletr, Eletr, Enchev, Fiesel, Flotho, Franke, Galanty, Gao, Garaycoechea, Garcia-Higuera, Gateva, Geisler, Gerlach, Grishin, Hamilton, Han, Hao, Hasebe, Hatakeyama, Heideker, Helen Walden, Hibbert, Hinks, Hira, Hodson, Hodson, Hu, Huang, Huang, Husnjak, Iguchi, Ikeda, Jin, Jostins, Juang, Kamadurai, Kane, Kar, Kazlauskaite, Kelsall, Kelsall, Kim, Kirisako, Kitada, Kondapalli, Koyano, Kulathu, Kumar, Kumar, Kumari, Langevin, Lechtenberg, Lewis, Li, Li, Li, Ling, Liu, Lobitz, Lopez-Martinez, Lorenz, Loveday, Mace, Machida, Mackay, Markson, Maure, McGinty, Meetei, Meetei, Meetei, Meindl, Metzger, Metzger, Michelle, Middleton, Mosedale, Mulder, Nakada, Nascimento, Nuber, Orozco, Page, Pao, Parker, Peltzer, Pelzer, Perkins, Petroski, Pickart, Plechanovová, Pontel, Pruneda, Pruneda, Rahman, Rajendra, Ravid, Rickard, Rickman, Rodrigo-Brenni, Rodrigo-Brenni, Ronchi, Rosado, Roy, Saha, Sarcevic, Scheffner, Schulman, Schumacher, Shchebet, Sheng, Sims, Singh, Sloper-Mould, Smogorzewska, Spratt, Spratt, Stahl, Stewart, Stieglitz, Streich, Sun, Tatham, Tokunaga, Trempe, Tsoi, Turco, Ueki, Valimberti, van Wijk, van Wijk, Viduth Chaugule, Virts, Vittal, Voutsadakis, Wang, Wang, Wang, Wauer, Wen, Wenzel, Wickliffe, Wiener, Windheim, Wood, Wooster, Xu, Yan, Yang, Yin, Yu, Zhang, Ziemba +192 morecore +5 more sourcesFludarabine-Based Reduced Intensity Conditioning for Stem Cell Transplantation of Fanconi Anemia Patients from Fully Matched Related and Unrelated Donors [PDF]
, 1978 Reduced intensity conditioning has been suggested as a desirable therapeutic modality for the treatment of patients with malignant and nonmalignant indications, but it seems particularly attractive for patients with Fanconi anemia due to their increased ...M. Bitan, R. Or, M.Y. Shapira, M. Aker, I.B. Resnick, A. Ackerstein, S. Samuel, S. Elad, S. Slavin, Alter, Auerbach, Joenje, Giampletro, Strathdee, Howlett, Gluckman, Berger, Gluckman, Socie, Slavin, Champlin, Kapelushnik, Kurre, Aker, de Medeiros, Boulad, Boyer, Rossi, Tan, Motwani, Glucksberg, Pugatsch, Nakamura, Gluckman, Dufour, Guardiola, Zanis-Neto, Guardiola, Weiss +38 morecore +1 more sourceParallel genome-wide screens identify synthetic viable interactions between the BLM helicase complex and Fanconi anemia. [PDF]
, 2017 Maintenance of genome integrity via repair of DNA damage is a key biological process required to suppress diseases, including Fanconi anemia (FA). We generated loss-of-function human haploid cells for FA complementation group C (FANCC), a gene encoding a Bock, Christoph, Ferreira da Silva, Joana, Ideker, Trey, Jackson, Stephen P, Kralovics, Robert, Loizou, Joanna I, Mazouzi, Abdelghani, Menche, Jörg, Moder, Martin, Owusu, Michel, Robinson-Garcia, Lydia, Schischlik, Fiorella, Schuster, Michael, Slavkovsky, Rastislav, Velimezi, Georgia, Wiedner, Marc +15 morecore +2 more sourcesExploring the link between MORF4L1 and risk of breast cancer. [PDF]
, 2011 INTRODUCTION: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway.Aguilar, Helena, Antoniou, Antonis C, Asperen, Christi J, Ausems, Margreet GEM, Barbany-Bustinza, Gisela, Barile, Monica, BCFR, Beesley, Jonathan, Benítez, Javier, Bernard, Loris, Bignon, Yves-Jean, Blanco, Ignacio, Blok, Marinus J, Bodmer, Danielle, Bogliolo, Massimo, Bonifaci, Núria, Borg, Ake, Brewer, Carole, Brunet, Joan, Bueren, Juan, Buys, Saundra, Caldés, Trinidad, Caligo, Maria Adelaide, Castellà, María, Castera, Laurent, Cerón, Julián, Chen, Xiaoqing, Chenevix-Trench, Georgia, Chu, Carol, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cook, Margaret, Couch, Fergus J, Cuadras, Daniel, Daly, Mary B, Davidson, Rosemarie, de Pauw, Antoine, Depping, Reinhard, Domchek, Susan M, Douglas, Fiona, Easton, Douglas F, Eeles, Rosalind, Ehrencrona, Hans, EMBRACE, Evans, D Gareth, Fernández-Rodríguez, Juana, Ferrer, Sandra Fert, Fredericksen, Zachary, Friedman, Eitan, Frost, Debra, GEMO Study Collaborators, Godwin, Andrew K, Goldgar, David E, Gómez-Baldó, Laia, Hamann, Ute, Harbst, Katja, Healey, Sue, HEBON, Heikkinen, Tuomas, Hernández, Gonzalo, Hodgson, Shirley, Hogervorst, Frans BL, Imyanitov, Evgeny N, Izatt, Louise, Janavicius, Ramunas, Johannsson, Oskar Thor, John, Esther M, Kaufman, Bella, kConFab, Kühl, Julia, Laitman, Yael, Lalloo, Fiona, Lázaro, Conxi, Manoukian, Siranoush, Martrat, Griselda, Maxwell, Christopher M, Mazoyer, Sylvie, McGuffog, Lesley, Meijers-Heijboer, Hanne EJ, Milgrom, Roni, Miron, Alexander, Moreno, Víctor, Morrison, Patrick J, Mortemousque, Isabelle, Nathanson, Katherine L, Nevanlinna, Heli, Neveling, Kornelia, Oliver, Clare T, Ong, Kai-Ren, Osorio, Ana, Ottini, Laura, Pasini, Barbara, Peissel, Bernard, Peock, Susan, Pereira-Smith, Olivia M, Peterlongo, Paolo, Peyrat, Jean-Philippe, Pientka, Friederike K, Platte, Radka, Porta-de-la-Riva, Montserrat, Porteous, Mary, Pujana, Miguel Angel, Putignano, Anna Laura, Radice, Paolo, Rahman, Nazneen, Ramírez, María J, Rantala, Johanna, Rebbeck, Timothy R, Renwick, Anthony, Rookus, Matti A, Roversi, Gaia, Savarese, Antonella, Schindler, Detlev, Seal, Sheila, Sinilnikova, Olga M, Southey, Melissa, Spurdle, Amanda, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Surrallés, Jordi, SWE-BRCA, Tilanus-Linthorst, Madeleine A, Tominaga, Emiko, Tominaga, Kaoru, Torres, Diana, Uhrhammer, Nancy, van Os, Theo A, Vennin, Philippe, Verhoef, Senno, Verny-Pierre, Carole, Viel, Alessandra, Vreeswijk, Maaike P, Wang, Xianshu, Zaffaroni, Daniela +133 morecore +20 more sourcesMouse SLX4 Is a Tumor Suppressor that Stimulates the Activity of the Nuclease XPF-ERCC1 in DNA Crosslink Repair [PDF]
, 2014 SLX4 binds to three nucleases (XPF-ERCC1, MUS81-EME1, and SLX1), and its deficiency leads to genomic instability, sensitivity to DNA crosslinking agents, and Fanconi anemia.Al-Minawi, Andersen, Angelov, Auerbach, Barnes, Bhagwat, Bogliolo, Bowles, Castor, Ceccaldi, Christopher M. Johnson, Crossan, de Laat, De Silva, Demuth, Dendouga, Enzlin, Evans, Fekairi, Fisher, Garaycoechea, Garaycoechea, Garcia-Higuera, Gerry P. Crossan, Guainazzi, Hsia, Jan Silhan, Juan I. Garaycoechea, Kashiyama, Ketan J. Patel, Kim, Kim, Klein Douwel, Knipscheer, Kratz, Kuraoka, Lindahl, Liu, Long, MacKay, McPherson, McWhir, Michael R.G. Hodskinson, Muñoz, Niedernhofer, Niedzwiedz, Orlando D. Schärer, Prasher, Räschle, Sengerová, Shivam Mukherjee, Sijbers, Simpson, Smogorzewska, Smogorzewska, Stoepker, Su, Svendsen, Trujillo, Wang, Wyatt, Yamamoto, Yoshikiyo, Zhou +63 morecore +2 more sources
