Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 18 patients with acute leukemia from those exposed to radiation when they had liquidated the consequences of the accident at the Chernobyl Atomic Power Station were examined. Sixteen of them had acute myeloblast cell leukemia, one had acute lymphatic leukemia, and another one had acute promyelocytic leukemia. A complex of hematological, immunocytological, and cytochemical findings, as well as leukocytic and erythrocytic genetically determined antigen typing were used for diagnosis. Signs of severe vegetovascular dystonia was found to be followed by acute leukemia in all the patients. A relationship was established between the therapy resistance and the HLA antigen homozygosity in combination with genetically-determined low reactivity. There were no significant differences between the parameters in question and those in patients with acute leukemia who had been studied in the preaccident period.
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PMID:[Clinico-immunocytological characteristics of leukemia in persons exposed to ionizing radiation effects due to the Chernobyl AES accident]. 195 Jan 55

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.
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PMID:Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 2854 72