Results 51 to 60 of about 7,414 (159)

Detectable clonal mosaicism in blood as biomarker of cancer risk in Fanconi anemia [PDF]

, 2016
Altres ajuts: Juan de la Cierva postdoctoral fellowship (JCI-2011-10660); Marató de TV3 (project 464/C/2012)Detectable clonal mosaicism for large chromosomal events has been associated with aging and an increased risk of hematological and some solid ...
López-Sánchez, Marcos, Pujol i Calvet, M. Roser, Reina-Castillón, Judith, Surrallés i Calonge, Jordi   +3 more
core   +2 more sources

A Novel Human Cellular System for Studying Normal Aging and for Anti‐Aging Discovery

Aging Cell, Volume 25, Issue 2, February 2026.
This study introduces a human cellular aging model using placental trophoblasts (hTSC‐STBs) that mimics key aging features like senescence and genomic instability. It aligns with human tissue aging and responds to anti‐aging treatments, offering a scalable platform to screen potential therapies and bridge lab findings to clinical applications ...
Zhen Feng, Cheuk Shuen Li, Haifeng Fu, Wenxin Jiang, Weiyu Zhang, Yingzhang Huang, Yunying Huang, Timothy Theodore Ka Ki Tam, Yang Li, Fang Liu, Liming Lu, Yin Lau Lee, William Shu Biu Yeung, Gordon Dougan, Pentao Liu   +14 more
wiley   +1 more source

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome [PDF]

, 2014
Patients with intragenic mutations of the VHL gene have a typical disease presentation. However in cases of large VHL gene deletions which involve other genes in the proximity of the VHL gene a presentation of the disease can be different. To investigate
Anna Jakubowska, Cezary Cybulski, Jacek Gronwald, Jan Lubiński, Karol Krzystolik, Leszek Cyryłowski, Leszek Sagan, Maciej R Krawczyński, Monika Drobek-Słowik, Wojciech Lubiński   +9 more
core   +2 more sources

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Massive Genomic and Transcriptomic Changes Within a Young Inversion Polymorphism in the Absence of Degeneration

Molecular Ecology, Volume 35, Issue 4, February 2026.
ABSTRACT Chromosomal inversion polymorphisms have been linked to the evolution of phenotypic variation, environmental adaptation, and speciation. The genome of the white‐throated sparrow (Zonotrichia albicollis) contains two exceptionally large chromosomal polymorphisms.
Nicole M. Baran, Hyeonsoo Jeong, Donna L. Maney, Soojin V. Yi   +3 more
wiley   +1 more source

Mechanisms of DNA damage, repair, and mutagenesis [PDF]

, 2017
Living organisms are continuously exposed to a myriad of DNA damaging agents that can impact health and modulate disease-states. However, robust DNA repair and damage-bypass mechanisms faithfully protect the DNA by either removing or tolerating the ...
Chatterjee, Nimrat, Walker, Graham C
core   +1 more source

In Situ Assembly of Transformable Monopeptide on Activated Neutrophils Attenuates NETs‐Induced Hepatocellular Carcinoma Metastasis by Disrupting NE Nuclear Translocation

Advanced Science, Volume 13, Issue 1, 5 January 2026.
Activated neutrophils release extracellular traps (NETs) that promote tumor metastasis. FTP‐NPs are develpoed, a peptidic nanomaterial that binds NE on neutrophil membranes, forming NE‐fibril clusters that deactivate NE and prevent NETs formation. This strategy reduces metastasis and enhances the anti‐tumor immune response by targeting NE subcellular ...
Yichi Chen, Yijun Wang, Haitao Shang, Jiayue Qiu, Ruotian Zhang, Yuxiang Xiong, Tong Wang, Fengyi Wang, Anbang Wu, Xin Lin, Bolin Wu, Chen Huang, Wen Cheng, Lu Zhang   +13 more
wiley   +1 more source

Mechanistic Insights and Therapeutic Potential of Small Nucleolar RNA Host Genes in the Carcinogenesis of Hepatocellular Carcinoma

Cancer Medicine, Volume 15, Issue 1, January 2026.
ABSTRACT Background Hepatocellular carcinoma (HCC) is one of the major factors endangering human health due to its poor prognosis, resulting from difficulties in early diagnosis and lack of effective treatment measures. Long non‐coding RNAs (lncRNAs), which are RNA molecules that do not translate into proteins, play essential roles in various tumor ...
Jiajia Luo, Zhangxiu Liao, Shuangxia Zhang   +2 more
wiley   +1 more source

Mechanism 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 more
core   +5 more sources

Exploring 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 more
core   +20 more sources