Results 61 to 70 of about 85,361 (267)

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

HMGB1 Assists in Overcoming Cisplatin Resistance in Chemoresistant Human Ovarian Cancer Cells

Molecular Carcinogenesis, EarlyView.
ABSTRACT Cisplatin is one of the most effective chemotherapeutic agents used in the treatment of ovarian cancer. However, the frequent development of cisplatin resistance remains a significant limitation, leading to therapeutic failure and poor patient outcomes.
Van Huynh, Guliang Wang, Anirban Mukherjee, Karen M. Vasquez   +3 more
wiley   +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

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia [PDF]

, 2019
BRCA2 (also known as FANCD1) is a core component of the Fanconi pathway and suppresses transformation of immature T-cells in mice. However, the contribution of Fanconi-BRCA pathway deficiency to human T-cell acute lymphoblastic leukemia (T-ALL) remains ...
Burns, Melissa A, Coppola, Vincenzoeditor, Degar, James, D’Andrea, Alan D, Ganesa, Chirag, Gutierrez, Alejandro, Harris, Marian H, Hinze, Laura, Hunger, Stephen P, Kochupurakkal, Bose, Loh, Mignon L, Menten, BjörnGE31UZGent0019961997768010017113010000-0001-8182-659XF6A4B240-F0ED-11E1-A9DE-61C894A0A6B4, Moreau, Lisa, Peirs, SofieUGent0000701777798020013204489710538315410000-0001-7036-1053066EFA00-F0EE-11E1-A9DE-61C894A0A6B4, Pouliot, Gayle P, Roderick, Justine, Silverman, Lewis B, Stevenson, Kristen E, Van Vlierberghe, PieterGE310001208427018020002253580000-0001-9063-7205F927748A-F0ED-11E1-A9DE-61C894A0A6B4, Vo, Chau D, Weinstock, David M, Weng, Andrew P   +21 more
core   +3 more sources

Engineering Dosimetric Excellence In Total Body Irradiation: Tomotherapy‐Driven Protocols for Precision and Reproducibility

Precision Radiation Oncology, EarlyView.
• Objective: Assess helical Tomotherapy‐based TBI for clinical feasibility, dosimetric reproducibility, and in‐vivo accuracy using dual‐orientation simulation and patient‐specific QA. • Methodology: Implementation of ArcCHECK 3D diode array, ionization chamber verification, and in‐vivo dosimetry with OSLDs at 16 anatomical sites to ensure precise dose ...
Sandeep Singh, Dipesh, Supratik Sen, Abhay Kumar Singh, Mahipal, Manindra Bhushan, Jaskaran Singh Sethi, David K. Simson, Munish Gairola   +8 more
wiley   +1 more source

Genetic diagnosis of Fanconi anemia. Literature review

Онкогематология, 2016
The literature review provides information on genetic diagnosis of Fanconi anemia: currently used methods of genetic analysis, spectrum and frequency of mutations, including in different populations, and order of molecular genetic methods are described ...
A. V. Panferova, N. M. Timofeeva, Yu. V. Ol’shanskaya   +2 more
doaj   +1 more source

Graft-versus-host disease and other cutaneous manifestations in pediatric patients transplanted for Fanconi anemia

Revista Paulista de Pediatria, 2023
Objective: The aim of this study was to elaborate a specific protocol for the assessment and early identification of skin lesions in pediatric patients with Fanconi anemia undergoing hematopoietic stem cell transplantation.
Leane Dhara Dalle Laste, Pâmela Schmidt, Gabriela Araujo Moreira, Janine Horsth Silva, Kerstin Taniguchi Abagge   +4 more
doaj   +1 more source

Specificity for deubiquitination of monoubiquitinated FANCD2 is driven by the N-terminus of USP1 [PDF]

, 2018
The Fanconi anemia pathway for DNA interstrand crosslink repair and the translesion synthesis pathway for DNA damage tolerance both require cycles of monoubiquitination and deubiquitination.
Arkinson, Connor, Chaugule, Viduth K, Toth, Rachel, Walden, Helen   +3 more
core   +3 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
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

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