Fanconi's anaemia is reported in 2 siblings. The simultaneous onset of pancytopenia after possible exposure to common external agents suggest that both a frail genotype and environmental factors may be etiologically involved in the disorder. One of the children died after having developed a monoblastic leukaemia. This patient disclosed very striking cytological abnormalities, including a dyserythropoietic pattern and ropalocytosis. The physiopathology of the latter abnormality, which has hitherto not been noticed in Fanconi's anaemia, is uncertain.
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http://dx.doi.org/10.1111/j.1600-0609.1982.tb00549.x | DOI Listing |
Stat Med
February 2025
Department of Mathematical Sciences, University of Texas at Dallas, Richardson, Texas, USA.
Multi-gene panel testing allows efficient detection of pathogenic variants in cancer susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing number of studies examine the risk of breast cancer (BC) conferred by pathogenic variants of these genes. A meta-analysis combining the reported risk estimates can provide an overall estimate of age-specific risk of developing BC, that is, penetrance for a gene.
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January 2025
School of Molecular Biosciences, University of Glasgow, Glasgow G12 8QQ, Scotland. Electronic address:
Ubiquitin-specific protease 1 (USP1) is the founding member of the family of cysteine proteases that catalyse hydrolysis of the isopeptide bond between ubiquitin and targets. USP1 is often overexpressed in various cancers, and expression levels correlate with poor prognosis. USP1 and its partner USP1-associated Factor 1 (UAF1) are required for deubiquitinating monoubiquitin signals in DNA interstrand crosslink repair, and in Translesion synthesis, among others, and both proteins are subject to multiple regulations themselves.
View Article and Find Full Text PDFRegen Ther
March 2025
Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Science, Tehran, Iran.
Gene therapy (GT) as a groundbreaking approach holds promise for treating many diseases including immune deficiencies and blood disorders. GT can benefit patients suffering from these diseases, especially those without matched donors or who are at risk after hematopoietic stem cell transplantation (HSCT). Due to all the advances in the field of GT, its main challenge is still gene delivery.
View Article and Find Full Text PDFGenet Test Mol Biomarkers
January 2025
Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved.
View Article and Find Full Text PDFJ Exp Med
March 2025
Department of Hematology, The Second Affiliated Hospital of Chongqing Medical University, School of Basic Medical Sciences, Chongqing Medical University, Chongqing, China.
Hematopoietic stem cells (HSCs) are susceptible to replication stress, which is a major contributor to HSC defects in Fanconi anemia (FA). Here, we report that HSCs relax the global chromatin by downregulating the expression of a chromatin architectural protein, DEK, in response to replication stress. DEK is abnormally accumulated in bone marrow (BM) CD34+ cells from patients with FA and in Fancd2-deficient HSCs.
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