Showing 1,021 - 1,040 results of 1,178 for search '"Genetic disorder', query time: 0.07s Refine Results
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    A dual role of Cohesin in DNA DSB repair by Michael Fedkenheuer, Yafang Shang, Seolkyoung Jung, Kevin Fedkenheuer, Solji Park, Davide Mazza, Robin Sebastian, Hiroyuki Nagashima, Dali Zong, Hua Tan, Sushil Kumar Jaiswal, Haiqing Fu, Anthony Cruz, Supriya V. Vartak, Jan Wisniewski, Vittorio Sartorelli, John J. O’Shea, Laura Elnitski, Andre Nussenzweig, Mirit I. Aladjem, Fei-Long Meng, Rafael Casellas

    Published 2025-01-01
    “…Defects in repairing double-stranded breaks (DSBs) can lead to genomic instability, contributing to cancer, genetic disorders, immunological diseases, and developmental defects. …”
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    Prevalence of common diarrheagenic enterobacteriaceae in Iran (2000–2023): a systematic review and meta-analysis by Mozhgan Derakhshan-Sefidi, Fereshteh Eidy, Somayyeh Nadi-Ravandi, Sareh Bagheri-Josheghani, Maryam Mirfakhraei

    Published 2025-01-01
    “…Among the various pathogens involved, those belonging to the Enterobacteriaceae family are the most frequently isolated and associated with gastrointestinal disorders. This study aimed to investigate the prevalence of common diarrheagenic Enterobacteriaceae in Iran over the past two decades, from 2000 to 2023. …”
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    Oxidative stress induced protein aggregation via GGCT produced pyroglutamic acid in drug resistant glioblastoma by Deanna Tiek, Xiao Song, Xiaozhou Yu, Runxin Wu, Rebeca Iglesia, Alicia Catezone, Katy McCortney, Jordain Walshon, Craig Horbinski, Pouya Jamshidi, Rudolph Castellani, Robert Vassar, Jason Miska, Bo Hu, Shi-Yuan Cheng

    Published 2025-02-01
    “…These findings suggest a new pathway for protein aggregation within drug resistant brain cancer that should be further studied in other brain disorders.…”
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    Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes by Peter Vo, Denise M. Imai-Leonard, Benjamin Yang, Andrew Briere, Andy Shao, M. Isabel Casanova, David Adams, Takanori Amano, Oana Amarie, Zorana Berberovic, Lynette Bower, Robert Braun, Steve Brown, Samantha Burrill, Soo Young Cho, Sharon Clementson-Mobbs, Abigail D’Souza, Mary Dickinson, Mohammad Eskandarian, Ann M. Flenniken, Helmut Fuchs, Valerie Gailus-Durner, Jason Heaney, Yann Hérault, Martin Hrabe de Angelis, Chih-Wei Hsu, Shundan Jin, Russell Joynson, Yeon Kyung Kang, Haerim Kim, Hiroshi Masuya, Hamid Meziane, Steve Murray, Ki-Hoan Nam, Hyuna Noh, Lauryl M. J. Nutter, Marcela Palkova, Jan Prochazka, Miles Joseph Raishbrook, Fabrice Riet, Jennifer Ryan, Jason Salazar, Zachery Seavey, John Richard Seavitt, Radislav Sedlacek, Mohammed Selloum, Kyoung Yul Seo, Je Kyung Seong, Hae-Sol Shin, Toshihiko Shiroishi, Michelle Stewart, Karen Svenson, Masaru Tamura, Heather Tolentino, Uchechukwu Udensi, Sara Wells, Jacqueline White, Amelia Willett, Janine Wotton, Wolfgang Wurst, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Louise Lanoue, K. C. Kent Lloyd, Brian C. Leonard, Michel J. Roux, Colin McKerlie, Ala Moshiri

    Published 2025-01-01
    “…Abstract Purpose Corneal dysmorphologies (CDs) are typically classified as either regressive degenerative corneal dystrophies (CDtrs) or defective growth and differentiation-driven corneal dysplasias (CDyps). Both eye disorders have multifactorial etiologies. While previous work has elucidated many aspects of CDs, such as presenting symptoms, epidemiology, and pathophysiology, the genetic mechanisms remain incompletely understood. …”
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    The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes by Daria Diodato, Daniele Ghezzi, Valeria Tiranti

    Published 2014-01-01
    “…Mitochondrial respiratory chain (RC) disorders are a group of genetically and clinically heterogeneous diseases. …”
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    Cardiomyopathy Associated with Celiac Disease in Childhood by Aleksandra Boskovic, Ivana Kitic, Dragan Prokic, Ivica Stankovic

    Published 2012-01-01
    “…Celiac disease is associated frequently with iron-deficiency anemia, dermatitis herpetiformis, selective IgA deficiency, thyroid disorders, diabetes mellitus, and various connective tissue disorders but is rarely associated with cardiomyopathy.…”
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