Results 81 to 90 of about 82,801 (216)

RAD51C – a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC) [PDF]

, 2014
INTRODUCTION: Head and neck squamous cell carcinomas (HNSSCs) are one of the leading causes of cancer-associated death worldwide. Although certain behavioral risk factors are well recognized as tumor promoting, there is very little known about the ...
Baldus, Stephan E., Balz, Vera, Freund, Marcel, Hanenberg, Helmut, Pakropa, Petra, Scheckenbach, Kathrin, Schipper, Jörg, Schäfer, Karl-Ludwig, Sproll, Christoph, Wagenmann, Martin   +9 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology [PDF]

, 2015
Fanconi anemia (FA) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time-consuming. Since next-generation sequencing technologies could
Cappelli, Enrico, Corti, Paola, D'Eustacchio, Angela, DE ROCCO, Daniela, Dufour, Carlo, Farruggia, Piero, Greco, Chiara, Marra, Nicoletta, Nicchia, Elena, Pallavicini, Alberto, Pecile, Vanna, Pillon, Marta, Ramenghi, Ugo, Savoia, Anna, Torelli, Lucio   +14 more
core   +2 more sources

Early‐Onset Digestive System Cancers: Risk Factors and Clinicopathological and Molecular Features Across Organ Sites

Cancer Science, Volume 117, Issue 5, Page 1223-1234, May 2026.
Shared risk factors, clinical features, and tumor characteristics across multiple early‐onset cancer types are shown in this Graphical Abstract. Integrative approaches combining molecular pathology, oncology, and population sciences offer opportunities to clarify underlying mechanisms and help us develop preventive strategies for early‐onset cancers ...
Nobuhiro Nakazawa, Satoko Ugai, Atsushi Kondo, Kosuke Matsuda, Shu Kato, Genki Usui, Shiori Tanaka, Hwa‐Young Lee, Xinyuan Zhang, Hideo Miyagawa, Mai Chan Lau, Hiroshi Saeki, Yukihide Kanemitsu, Andrew T. Chan, Shuji Ogino, Minkyo Song, Juha P. Väyrynen, Tomotaka Ugai   +17 more
wiley   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Mechanisms of Aristolochic Acid Resistance in Specialist Butterflies and Evolutionary Insights for Potential Protective Pathways

Advanced Science, Volume 13, Issue 19, 2 April 2026.
The study provides an extreme example of insect adaptation to highly toxic defenses of host plants, and investigates the complex strategies to resist carcinogenic aristolochic acids, including physical isolation, metabolic detoxification, and DNA repair.
Yang Luan, Yubo Zhang, Jingjing Li, Jianqing Zhu, Yuyang Lei, Yushi Hu, Zhenqiang Xin, Tianpei Xie, Jiang Zheng, Yuanyuan Lin, Jingjing Shen, Yiyi Cao, Xinyue You, Jing Xi, Jiaying Wu, Weiying Liu, Xinyu Zhang, Yuanting Zheng, David J. Lohman, Leming Shi, Wei Zhang   +20 more
wiley   +1 more source

Inherited mutations impair responses to environmental carcinogens: Cancer prevention in mutation carriers [PDF]

, 2011
Some environmental carcinogens may be responsible for a modest increase in the numbers of cancers after years of exposure. Economic or political factors weigh against widespread bans of carcinogens.
Bernard Friedenson
core   +2 more sources

Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry

Haematologica, 2008
Background Fanconi anemia is an inherited genomic instability syndrome associated with progressive bone marrow failure leading to death or the requirement for hematopoietic stem cell transplantation, acute myeloid leukemia, and solid tumors.
Philip S. Rosenberg, Blanche P. Alter, Wolfram Ebell   +2 more
doaj   +1 more source

A novel interplay between the Fanconi anemia core complex and ATR-ATRIP kinase during DNA cross-link repair. [PDF]

, 2013
When DNA replication is stalled at sites of DNA damage, a cascade of responses is activated in the cell to halt cell cycle progression and promote DNA repair. A pathway initiated by the kinase Ataxia teleangiectasia and Rad3 related (ATR) and its partner
Adachi, Jun, Ikura, Masae, Ikura, Tsuyoshi, Ishiai, Masamichi, Itaya, Akiko, Kamiya, Kenji, Kobayashi, Masahiko, Maehara, Yoshihiko, Masuda, Yuji, Matsuda, Shun, Matsuda, Tomonari, Matsuura, Akira, Meetei, Amom Ruhikanta, Shigechi, Tomoko, Takata, Minoru, Tomida, Junya, Uchida, Emi, Unno, Junya, Yamamoto, Ken-Ichi   +18 more
core   +1 more source