Results 1 to 10 of about 70,491 (173)

Aggressive Mandibular Squamous Cell Carcinoma Mimicking Periodontal Disease in a Non‐Transplanted Patient With Fanconi Anemia

Head &Neck, EarlyView.
ABSTRACT Background Fanconi anemia (FA) is associated with markedly increased risk for early‐onset oral squamous cell carcinoma (OSCC). Methods We report an aggressive mandibular squamous cell carcinoma in a 26‐year‐old non‐transplanted woman with FA initially interpreted as localized periodontal disease adjacent to a tongue leukoplakia.
Cassius Carvalho Torres‐Pereira, Laura Grein Cavalcanti, Marta Aparecida Alberton Nuernberg, Juliana Lucena Schussel, José Miguel Amenábar Céspedes   +4 more
wiley   +1 more source

Parallel genome-wide screens identify synthetic viable interactions between the BLM helicase complex and Fanconi anemia

Nature Communications, 2017
Fanconi anemia is a complex disease affecting multiple DNA repair proteins that resolve DNA crosslinks which can block vital processes. Here the authors use parallel genome-wide screens that identify the BLM helicase complex as a suppressor of Fanconi ...
Martin Moder, Georgia Velimezi, Michel Owusu, Abdelghani Mazouzi, Marc Wiedner, Joana Ferreira da Silva, Lydia Robinson-Garcia, Fiorella Schischlik, Rastislav Slavkovsky, Robert Kralovics, Michael Schuster, Christoph Bock, Trey Ideker, Stephen P. Jackson, Jörg Menche, Joanna I. Loizou   +15 more
doaj   +1 more source

Telomere length in inherited bone marrow failure syndromes

Haematologica, 2015
Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S. Rosenberg   +3 more
doaj   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Identification of Active Compounds of Centipeda minima for Potentiating Tumor Immunotherapy in Non‐Small Cell Lung Cancer via FANCD2‐cGAS/STING/IFN‐I Signaling Axis

Phytotherapy Research, EarlyView.
Schematic diagram illustrating the underlying mechanisms by which ECM and its active components activate the FANCD2‐cGAS/STING/IFN‐I signaling axis, thus enhancing the therapeutic efficacy of anti‐PD‐1 in NSCLC. ABSTRACT Activation of cGAS/STING/IFN‐I signaling pathway serves as a potential therapeutic strategy to enhance CD8+ T cells infiltration and ...
Han‐Chen Wang, Chu‐Ying Chen, Jiang‐Tao Xiao, Rou‐Qiao Zheng, Wen‐Da He, Zi‐Wei Xu, Su‐Fen Wei, Tao Su, Guang‐Biao Zhou, Yong‐Qiang Liu   +9 more
wiley   +1 more source

Global Neurocognitive and Emotional Dysfunction in Fanconi Anemia: A Neuropsychological Case Report of a 39-Year-Old Patient

Case Reports in Neurological Medicine
Fanconi anemia is a rare genetic disorder characterized by impaired DNA repair, leading to bone marrow failure, congenital anomalies, and increased cancer risk.
Ollie Fegter, Brian M. Cerny, Jason R. Soble   +2 more
doaj   +1 more source

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

Haematologica, 2018
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, and follows them with a common ...
Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S Rosenberg   +3 more
doaj   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Genotype‐Informed Whole‐Animal Kinome Screening Reveals Shared Kinase Vulnerabilities Across Driver Contexts in PDAC

Cancer Science, EarlyView.
Overview of experimental workflow and key findings. Clinically prevalent 2‐hit and 3‐hit PDAC genotypes were first modeled in Drosophila to enable kinome‐wide genetic screening. Candidate therapeutic targets were prioritized using human tumor expression data and pathway enrichment analyses.
Han Hai, Takako Ooshio, Hui Jiang, Taku Kimura, Yusuke Satoh, Soichiro Hata, Taiga Hirata, Jiayi Liu, Tongwei Liu, Ryodai Yamamura, Masahiro Sonoshita   +10 more
wiley   +1 more source

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

Haematologica, 2019
Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It results from mutations in one of the 22 known FANC genes.
Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori-Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata   +27 more
doaj   +1 more source