We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill-defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non-lymphocytic leukemia, M4). This family lacks the characteristic chromosomal aberrations of Fanconi's anemia. We believe this constellation of findings represents an entity not previously described.
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http://dx.doi.org/10.1002/ajh.2830320402 | DOI Listing |
Viruses
December 2024
Key Laboratory of Biosafety Defense (Naval Medical University), Ministry of Education, Naval Medical University (Second Military Medical University), Shanghai 200433, China.
Unlike other ubiquitin-like family members, UBL5 is structurally and functionally atypical, and a novel role in various biological processes and diseases has been discovered. UBL5 can stabilize the structure of the spliceosome, can promote post-transcriptional processing, and has been implicated in both DNA damage repair and protein unfolding reactions, as well as cellular mechanisms that are frequently exploited by viruses for their own proliferation during viral infections. In addition, UBL5 can inhibit viral infection by binding to the non-structural protein 3 of rice stripe virus and mediating its degradation.
View Article and Find Full Text PDFBiomedicines
December 2024
Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Background/objectives: The enzyme ubiquitin-specific protease 44 (USP44) is a deubiquitinating enzyme with identified physiological roles as a tumor suppressor and an oncogene. While some binding partners and substrates are known for USP44, the identification of other interactions may improve our understanding of its role in cancer. We therefore performed a proximity biotinylation study that identified products of several known cancer genes that are associated with USP44, including a novel interaction between BRCA2 and USP44.
View Article and Find Full Text PDFTurk J Haematol
January 2025
Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye.
Andes Pediatr
October 2024
Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
Unlabelled: Inherited Bone Marrow Failure syndromes account for approximately 25% of cases of aplastic anemia in pediatric patients. Next-generation sequencing (NGS) technologies have allowed the diagnosis of an increasing number of hereditary causes of bone marrow failure.
Objective: To determine the diagnostic yield and clinical concordance of NGS in the diagnosis of a cohort of pediatric patients with bone marrow failure.
Haematologica
January 2025
Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva; Sackler Faculty of Medicine, Aviv University, Aviv; ; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Petach Tikva.
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