Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.16 (calcineurin)
 17,112 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pyogenic granuloma (PG) is a benign, neoplastic, soft tissue growth of granulation and fibrous tissue that may rarely occur in the mouth of patients after hematopoietic cell transplant (HCT). This case series describes 5 pediatric/adolescent patients who developed oral PG after HCT for acute lymphoblastic leukemia, Fanconi anemia, nodular sclerosis Hodgkin's lymphoma, or junctional epidermolysis bullosa. The underlying mechanism for the appearance of oral PG after HCT is unknown, but it is suggested that calcineurin inhibitors used for graft versus host disease (GVHD) may play a role, as all patients were on cyclosporine A or tacrolimus at the time of development of oral PG. Three of the patients were being treated for chronic GVHD, and 1 other treated for acute GVHD. Overall, this report illustrates that PG should be considered in the differential diagnoses when encountering oral lesions in pediatric/adolescent patients after undergoing HCT, especially in the context of chronic GVHD and calcineurin inhibitors use.
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PMID:Oral Pyogenic Granuloma After Bone Marrow Transplant in the Pediatric/Adolescent Population: Report of 5 Cases. 2727 13

Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and increased cancer risk. The FA proteins function primarily in DNA interstrand crosslink (ICL) repair. Here, we have examined the role of the PTEN phosphatase in this process. We have established that PTEN-deficient cells, like FA cells, exhibit increased cytotoxicity, chromosome structural aberrations, and error-prone mutagenic DNA repair following exposure to ICL-inducing agents. The increased ICL sensitivity of PTEN-deficient cells is caused, in part, by elevated PLK1 kinase-mediated phosphorylation of FANCM, constitutive FANCM polyubiquitination and degradation, and the consequent inefficient assembly of the FA core complex, FANCD2, and FANCI into DNA repair foci. We also establish that PTEN function in ICL repair is dependent on its protein phosphatase activity and ability to be SUMOylated, yet is independent of its lipid phosphatase activity. Finally, via epistasis analysis, we demonstrate that PTEN and FANCD2 function cooperatively in ICL repair.
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PMID:The PTEN phosphatase functions cooperatively with the Fanconi anemia proteins in DNA crosslink repair. 2781 75