Results 61 to 70 of about 82,801 (216)

Pyoderma gangrenosum: a presenting sign of myelodysplastic syndrome in undiagnosed Fanconi anemia [PDF]

, 2019
A 26-year-old man with a history of congenital bilateral microtia, unilateral renal agenesis, left aural atresia, and right external auditory canal occlusion admitted for right rib cartilage graft harvest and left ear re-construction.
Kandula, Prasanthi, Le, Cuong, Shah, Kishan M., Wolverton, Jay E., Wolverton, Stephen E.   +4 more
core  

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

Avenços en el diagnòstic de l'anèmia de Fanconi [PDF]

, 2011
L'anèmia de Fanconi es una malaltia poc freqüent que provoca anèmia progressiva i predisposició al càncer. Actualment, el seu diagnòstic, basat en un test de fragilitat cromosòmica, no és precís.
Surrallés i Calonge, Jordi
core   +1 more source

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

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

L’anémie de Fanconi : gènes et fonction(s) revisités [PDF]

, 2005
Des mutations dans les gènes FANC sont responsables de l’anémie de Fanconi (AF), une maladie génétique de phénotype complexe incluant une pancytopénie, des malformations congénitales et une prédisposition élevée au cancer.
Moustacchi, Ethel, Papadopoulo, Dora
core   +1 more source

CPX‐351 in High‐Risk Relapsed Pediatric Acute Leukemia: Real‐World Phase 1 Data Establishing the FDA‐Approved Dose

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
ABSTRACT Background/Objectives Outcomes for pediatric relapsed/refractory (R/R) acute myeloid leukemia (AML) remain dismal. CPX‐351, a liposomal formulation of cytarabine and daunorubicin, may have less off‐target toxicities than traditional chemotherapies and has shown improved outcomes for adults with newly diagnosed therapy‐related AML.
Jonathan D. Bender, Lauren Pommert, Lori R. Backus, Andrea Bidwell, Courtney Blank, Erin H. Breese, Karen C. Burns, Adam Lane, Lynn H. Lee, Benjamin Mizukawa, Robin E. Norris, Maureen M. O'Brien, Daniel Peck, Christine Phillips, Thomas D. Ryan, Jennifer Young, Michael Absalon, John P. Perentesis   +17 more
wiley   +1 more source

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing [PDF]

, 2012
Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far.
Ameziane, N., Floor, K., Gille, J.J.P., Joenje, H., Kerkhoven, L., Winter, J.P. de   +5 more
core   +3 more sources

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1004-1011, May 2026.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 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