Results 41 to 50 of about 82,801 (216)
Molecular Cytogenetics, 2020 Background Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair.
Anna Repczynska +6 more
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Influence of catalase on the radiosensitivity of Fanconi anemia lymphocytes in vitro [PDF]
Archives of Biological Sciences, 2009 Fanconi anemia (FA) is a genetic disease characterized by progressive pancytopenia and cancer susceptibility. The clinical and cellular phenotypes of Fanconi anemia are associated with a set of redox abnormalities, indicating that FA is an oxidative ...
Petrović Sandra +5 more
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Aging Is a Key Driver for Adult Acute Myeloid Leukemia
Aging and Cancer, EarlyView.Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley +1 more source
Haematologica, 2010 Reduced fertility is one clinical manifestation among other well known Fanconi anemia features. Most recipients of allogeneic hematopoietic stem cell transplantation suffer from secondary infertility owing to gonadal damage from myeloablative ...
Samir K. Nabhan +14 more
doaj +1 more source
PALB2 self-interaction controls homologous recombination. [PDF]
, 2012 PALB2 is essential for BRCA2 anchorage to nuclear structures and for homologous recombinational repair of DNA double-strand breaks. Here, we report that the N-terminal coiled-coil motif of PALB2 regulates its self-association and homologous recombination.
Buisson, Rémi, Masson, Jean-Yves
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu +10 more
wiley +1 more source
A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers [PDF]
, 2010 Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core +1 more source
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
core +1 more source
Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community
Prenatal Diagnosis, EarlyView.ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum +4 more
wiley +1 more source
Mutations in pathways depending on BRCA1 and BRCA2 may increase cancer risks from an environmental carcinogen [PDF]
, 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