Results 21 to 30 of about 85,361 (267)

Chromosomal integrity after UV irradiation requires FANCD2-mediated repair of double strand breaks [PDF]

open access: yes, 2016
Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork ...
Bocco, Jose Luis   +7 more
core   +3 more sources

Diagnosis of Fanconi anemia in patients with bone marrow failure

open access: yesHaematologica, 2009
Background Patients with bone marrow failure and undiagnosed underlying Fanconi anemia may experience major toxicity if given standard-dose conditioning regimens for hematopoietic stem cell transplant.
Fernando O. Pinto   +12 more
doaj   +1 more source

Mutations in pathways depending on BRCA1 and BRCA2 may increase cancer risks from an environmental carcinogen [PDF]

open access: yes, 2011
Recently, the President’s Cancer Panel [2008-2009] protested that preventive action is not taken when uncertainty exists about potential harm from a chemical, because the US regulatory approach demands that a hazard be incontrovertibly ...
Bernard Friedenson
core   +2 more sources

Crystal structure of a Fanconi anemia-associated nuclease homolog bound to 5′ flap DNA: basis of interstrand cross-link repair by FAN1 [PDF]

open access: yes, 2014
Fanconi anemia (FA) is an autosomal recessive genetic disorder caused by defects in any of 15 FA genes responsible for processing DNA interstrand cross-links (ICLs).
Carr, Antony   +10 more
core   +1 more source

DNA double strand breaks but not interstrand crosslinks prevent progress through meiosis in fully grown mouse oocytes [PDF]

open access: yes, 2012
There is some interest in how mammalian oocytes respond to different types of DNA damage because of the increasing expectation of fertility preservation in women undergoing chemotherapy.
Julie A. Merriman   +4 more
core   +3 more sources

Fanconi Anemia

open access: yesJournal of Microbiology & Experimentation
Bhandari J   +3 more
europepmc   +4 more sources

Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature

open access: yesFrontiers in Physiology, 2021
Diamond Blackfan Anemia (DBA) is an inherited bone marrow (BM) failure syndrome, characterized by a paucity of erythroid differentiation. DBA is mainly caused by the mutations in ribosomal protein genes, hence classified as ribosomopathy.
Beren Karaosmanoglu   +10 more
doaj   +1 more source

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

open access: yesHaematologica, 2010
Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary   +20 more
doaj   +1 more source

Mutated Fanconi anemia pathway in non-Fanconi anemia cancers

open access: yesOncotarget, 2015
An extremely high cancer incidence and the hypersensitivity to DNA crosslinking agents associated with Fanconi Anemia (FA) have marked it to be a unique genetic model system to study human cancer etiology and treatment, which has emerged an intense area of investigation in cancer research.
Yihang, Shen   +5 more
openaire   +3 more sources

Dicer prevents genome instability in response to replication stress [PDF]

open access: yes, 2019
Dicer, an endoribonuclease best-known for its role in microRNA biogenesis and RNA interference pathway, has been shown to play a role in the DNA damage response and repair of double-stranded DNA breaks (DSBs) in mammalian cells.
Barra, Viviana   +6 more
core   +2 more sources

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