Results 31 to 40 of about 7,414 (159)

Fanconi anemia : a model disease for studies on human genetics and advanced therapeutics [PDF]

, 2015
Fanconi anemia (FA) is characterized by bone marrow failure, malformations, and chromosome fragility. We review the recent discovery of FA genes and efforts to develop genetic therapies for FA in the last five years. Because current data exclude FANCM as
Bogliolo, Massimo
core   +2 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

The Fanconi anemia proteins FANCD2 and FANCJ interact and regulate each other's chromatin localization. [PDF]

, 2014
Fanconi anemia is a genetic disease resulting in bone marrow failure, birth defects, and cancer that is thought to encompass a defect in maintenance of genomic stability.
Alter, Andreassen, Andrew S. Marriott, Bogliolo, Bridge, Cantor, Cantor, Collins, Collins, Constantinou, Garaycoechea, Garcia-Higuera, Garcia-Higuera, Gary M. Kupfer, Gong, Green, Gupta, Howlett, Hussain, James B. Wilson, Kee, Kee, Kitao, Krejci, Kupfer, Levitus, Levran, Litman, London, Matsushita, Meetei, Moldovan, Montes de Oca, Nigel J. Jones, Park, Patricia McChesney, Patrick Sung, Peng, Reid, Seal, Simonne Longerich, Sobhian, Sommers, Stacy A. Williams, Thomashevski, Thompson, Vandenberg, Waisfisz, Wang, Wang, Wang, Wang, Wilson, Wu, Wu, Xia, Xiaoyong Chen, Xie, Yamashita, Youngho Kwon, Zhang   +60 more
core   +1 more source

Early‐Onset Oral Squamous Cell Carcinoma: Emerging Biological Insights, Risk Factors and Clinical Implications

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Background Early‐onset oral squamous cell carcinoma (EO‐OSCC), commonly defined as occurring in individuals under 50 years of age, is increasingly recognized as a potentially distinct clinical subset with differences in exposure patterns and tumor biology compared with conventional oral squamous cell carcinoma (OSCC).
Gennaro Musella, Cristina D'Antonio, Federica Canfora, Michele D. Mignogna, Valentino Vellone, Vito Carlo Alberto Caponio, Amerigo Giudice, Alessandro Villa, Daniela Adamo   +8 more
wiley   +1 more source

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome [PDF]

, 2016
Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome.
Bottega, Roberta, Cappelli, Enrico, Cesaro, Simone, Cipolli, Marco, Columbaro, Marta, Corsolini, Fabio, Cuccarolo, Paola, Degan, Paolo, Dufour, Carlo, Faleschini, Michela, Ravera, Silvia, Savoia, Anna, Usai, Cesare   +12 more
core   +3 more sources

Integrative Phosphoproteomic Profiling Reveals Stage‐Specific Signalling and Metabolism in Equine Melanocytic Neoplasm

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Equine melanocytic neoplasms (EMN) are aggressive tumours characterised by high metastatic potential and limited therapeutic options available. However, the molecular mechanisms underlying their progression remain poorly understood. This study therefore presents the integrative phosphoproteomic analysis of EMN tissue, with the aim of ...
Paitoon Srimontri, Amornthep Kingkaw, Nawarus Prapaiwan, Rangsima Sujittosakul, Nichapat Iamkaewprasert, Jiraschaya Piputwat, Puetta Isama‐al, Thanutchanok Munkongdee, Thanapon Chotikaprakal, Petchpailin Yanyongsirikarn, Narumon Phaonakrop, Sittiruk Roytrakul, Wanwipa Vongsangnak, Parichart Tesena   +13 more
wiley   +1 more source

Oral human papillomavirus is common in individuals with Fanconi anemia [PDF]

, 2015
Fanconi anemia is a rare genetic disorder resulting in a loss of function of the Fanconi anemia-related DNA repair pathway. Individuals with Fanconi anemia are predisposed to some cancers, including oropharyngeal and gynecologic cancers, with known ...
Brown, Darron R., Davies, Stella M., Hoskins, Elizabeth E., Kovacic, Melinda Butsch, Mehta, Parinda A., Mueller, Robin, Myers, Kasiani C., Panicker, Gitika, Sauter, Sharon L., Sivaprasad, Umasundari, Unger, Elizabeth R., Wells, Susanne I., Zhang, Xue   +12 more
core   +2 more sources

Adverse Prognostic Significance of Activation‐Induced Cytidine Deaminase in Diffuse Large B‐Cell Lymphoma Patients Treated With R‐CHOP

Cancer Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background A number of studies have demonstrated the important role of activation‐induced cytidine deaminase (AID) in the pathogenesis of diffuse large B‐cell lymphoma (DLBCL). AID has been relatively underexplored as a prognostic factor in DLBCL, and its role remains controversial.
Mardiah Suci Hardianti, Nungki Anggorowati, Syahru Agung Setiawan, Miraz Radhea Bagaskoro, Johan Kurnianda, Kartika Widayati Taroeno‐Hariadi, Ibnu Purwanto, Susanna Hilda Hutajulu   +7 more
wiley   +1 more source

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

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source