Results 91 to 100 of about 82,801 (216)

Chromosomal aberrations in patients suspected with the risk of Fanconi anemia

مجله دانشگاه علوم پزشکی گرگان, 2013
Background and Objective: Fanconi anemia is the most prevalent inherited aplastic anemia. Diagnosis based solely on the recognition of clinical symptoms is not reliable.
Rezamand A, Asghari Estiar M, Sadeghi B, Sakhinia E   +3 more
doaj  

A rare case of Fanconi anemia with Mitomycin C sensitivity: A pediatrics case report

Clinical Case Reports
Key Clinical Message Fanconi anemia with Mitomycin C sensitivity is a rare, complex hematological condition. Our case study emphasizes the significance of early diagnosis, appropriate genetic testing, and cautious use of chemotherapeutic agents. Abstract
Vraj Bhatt, Sunidhi Rohatgi, Mansi Singh
doaj   +1 more source

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Haematologica, 2018
Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia proteins in DNA repair, their involvement in mitochondrial function is emerging.
Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia   +14 more
doaj   +1 more source

Fanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case report [PDF]

, 2006
Fanconi Anemia is a rare autosomal recessive disorder characterized by various congenital malformations, progressive bone marrow failure at a very young age and of solid tumors development.
Giulio Gasparini, Gianluigi Longobardi, Roberto Boniello, Alessandro Di Petrillo, Sandro Pelo, G Fanconi, JP Lustig, MR Swift, A Esparza, H Joenje, CC dos Santos, M Linares, DP LeBrun, J Moldvay, B Oksuzoglu, DI Kutler, MJ Kaplan, P Jansisyanont, G Socie, M Bremer, K Reed, AW Kennedy, BP Alter   +22 more
core   +3 more sources

Recent advances in understanding hematopoiesis in Fanconi Anemia [version 1; referees: 4 approved]

F1000Research, 2018
Fanconi anemia is an inherited disease characterized by genomic instability, hypersensitivity to DNA cross-linking agents, bone marrow failure, short stature, skeletal abnormalities, and a high relative risk of myeloid leukemia and epithelial ...
Grover Bagby
doaj   +1 more source

Gonadotropin-releasing hormone regulates expression of the DNA damage repair gene, Fanconi anemia A, in pituitary gonadotroph cells [PDF]

, 2004
Gonadal function is critically dependant on regulated secretion of the gonadotropin hormones from anterior pituitary gonadotroph cells. Gonadotropin biosynthesis and release is triggered by the binding of hypothalamic GnRH to GnRH receptor expressed on ...
Brown, Pamela, Chang, Lynda, Clinton, Michael, Larder, Rachel   +3 more
core   +1 more source

Klippel–Trenaunay syndrome associated with chronic myeloid leukemia

Hematology, Transfusion and Cell Therapy, 2020
C. Coskun, T. Aksu, F. Gumruk, S. Unal
doaj   +1 more source

Chromosomal instability syndromes are sensitive to poly ADP-ribose polymerase inhibitors

Haematologica, 2008
Poly ADP-ribose polymerase inhibitors have been shown to target cells with homologous recombination DNA repair defects. We report that poly ADP-ribose polymerase inhibitors induces apoptosis in cells deficient in other key DNA repair components ...
Terry J. Gaymes, Sydney Shall, Farzin Farzaneh, Ghulam J. Mufti   +3 more
doaj   +1 more source

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]

, 2019
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.
Aalfs, Cora M, ABCTB Investigators, Adank, Muriel A, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B, Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E, Beauparlant, Charles Joly, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M, Blomqvist, Carl, Bogdanova, Natalia V, Bogliolo, Massimo, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brady, Angela F, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cadoo, Karen, Caldés, Trinidad, Caleca, Laura, Caliebe, Almuth, Caligo, Maria A, Campa, Daniele, Campbell, Ian G, Canzian, Federico, Castelao, Jose E, Catucci, Irene, Chang-Claude, Jenny, Chanock, Stephen J, Claes, Kathleen BM, Clarke, Christine L, Collavoli, Anita, Conner, Thomas A, Cox, David G, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figlioli, Gisella, Figueroa, Jonine, Flyger, Henrik, Foulkes, William D, Friebel, Tara M, Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Kiiski, Johanna I, Lasheras, Sandra Viz, Leslie, Goska, Michailidou, Kyriaki, Muranen, Taru A, Pujol, Roser   +99 more
core  

FANCD2 re-expression is associated with glioma grade and chemical inhibition of the Fanconi Anaemia pathway sensitises gliomas to chemotherapeutic agents. [PDF]

, 2014
Brain tumours kill more children and adults under 40 than any other cancer. Around half of primary brain tumours are glioblastoma multiforme (GBMs) where treatment remains a significant challenge.
Beveridge, R.D., Carroll, T.A., Collis, S.J., Cox, A., Depondt, M.L., Fernando, M., Jellinek, D., Kriplani, D.H., Myers, K.N., Patil, A.A., Roylance, A., Sayal, P.   +11 more
core   +2 more sources