Results 41 to 50 of about 7,414 (159)
Investigation of FANCA mutations in greek patients [PDF]
, 2013 Background: Fanconi anemia (FA) is a rare genetic disease characterized by considerable heterogeneity. Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA ...
Fryssira, Elena +8 more
core
FANCD2 facilitates replication through common fragile sites [PDF]
, 2016 Common fragile sites (CFSs) are genomic regions that are unstable under conditions of replicative stress. Although the characteristics of CFSs that render them vulnerable to stress are mainly associated with replication, the cellular pathways that ...
Aguilera López, Andrés +5 more
core +1 more source
European Journal of Haematology, Volume 116, Issue 4, Page 336-349, April 2026.ABSTRACT Allogeneic hematopoietic stem cell transplantation (HSCT) is increasingly used to treat malignant and non‐malignant diseases. Following allogeneic HSCT, patients are particularly vulnerable to vaccine‐preventable diseases (VPD) because conditioning depletes immune cells, including memory cells.
Hélène Buvelot +3 more
wiley +1 more source
MHF1–2/CENP-S-X performs distinct roles in centromere metabolism and genetic recombination [PDF]
, 2013 Peer reviewedPublisher ...
Bhattacharjee, Sonali +5 more
core +1 more source
When R‐Loops Go Awry: Genome Instability and Neurological Diseases
European Journal of Neuroscience, Volume 63, Issue 8, April 2026.DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley +1 more source
Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia [PDF]
, 2011 International ...
A Ciccia +40 more
core +3 more sources
Early Cancer Detection: What's Going on and What's Next
MedComm, Volume 7, Issue 3, March 2026.Multicancer early detection (MCED) platforms have emerged as a promising strategy for the safe and effective early detection of multiple cancer types, with the potential to reduce metastatic burden and improve clinical outcomes, particularly for aggressive malignancies that lack effective population‐level screening.
Emma Di Carlo
wiley +1 more source
Targeted gene therapy and cell reprogramming in Fanconi anemia [PDF]
, 2014 Altres ajuts: European Regional Development FEDER Funds, Italian Ministry of Health, Fondo de Investigaciones Sanitarias, Dirección General de Investigación de la Comunidad de Madrid S2010/BMD-2420, La Fundació Privada La Marató de TV3 121430/31/32 ...
Almarza, Elena +20 more
core +3 more sources
Genetic risk factor identification for common epilepsies guided by integrative omics data analysis
Epilepsia, Volume 67, Issue 3, Page 1406-1420, March 2026.Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri +9 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
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