Results 21 to 30 of about 82,801 (216)

Timed inhibition of CDC7 increases CRISPR-Cas9 mediated templated repair. [PDF]

open access: yes, 2020
Repair of double strand DNA breaks (DSBs) can result in gene disruption or gene modification via homology directed repair (HDR) from donor DNA. Altering cellular responses to DSBs may rebalance editing outcomes towards HDR and away from other repair ...
A Ferreira   +54 more
core   +1 more source

Immune thrombocytopenia in two unrelated Fanconi anemia patients – a mere coincidence?

open access: yesFrontiers in Pediatrics, 2015
Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia.
Anna eKarastaneva   +10 more
doaj   +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   +6 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

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

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

The DNA damage response acts as a safeguardagainst harmful DNA–RNA hybrids ofdifferent origins [PDF]

open access: yes, 2019
Despite playing physiological roles in specific situations, DNA–RNA hybrids threat genome integrity. To investigate how cells do counteract spontaneous DNA–RNA hybrids, here we screen an siRNA library covering 240 human DNA damage response (DDR) genes ...
Aguilera López, Andrés   +5 more
core   +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

DNA repair: Disorders [PDF]

open access: yes, 2010
No description ...
Bose   +36 more
core   +1 more source

Fanca−/− hematopoietic stem cells demonstrate a mobilization defect which can be overcome by administration of the Rac inhibitor NSC23766

open access: yesHaematologica, 2009
Fanconi anemia is a severe bone marrow failure syndrome resulting from inactivating mutations of Fanconi anemia pathway genes. Gene and cell therapy trials using hematopoietic stem cells and progenitors have been hampered by poor mobilization of HSC to ...
Michael D. Milsom   +3 more
doaj   +1 more source

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