Results 41 to 50 of about 8,375 (152)
Fanconi anemia proteins function in mitophagy and immunity [PDF]
, 2016 Fanconi anemia (FA) pathway genes are important tumor suppressors whose best-characterized function is repair of damaged nuclear DNA. Here, we describe an essential role for FA genes in two forms of selective autophagy.
Clapp, D. Wade +11 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +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
Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome [PDF]
, 2014 Patients with intragenic mutations of the VHL gene have a typical disease presentation. However in cases of large VHL gene deletions which involve other genes in the proximity of the VHL gene a presentation of the disease can be different. To investigate
Anna Jakubowska +9 more
core +7 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
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
Oral human papillomavirus is common in individuals with Fanconi anemia [PDF]
, 2015 Fanconi anemia is a rare genetic disorder resulting in a loss of function of the Fanconi anemia-related DNA repair pathway. Individuals with Fanconi anemia are predisposed to some cancers, including oropharyngeal and gynecologic cancers, with known ...
Brown, Darron R. +12 more
core +2 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