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Background: Primary central nervous system lymphoma (PCNSL) is a rare lymphoid malignancy. Systemic profiling of the PCNSL tumor microenvironment (TME) was previously conducted through gene expression analysis. We investigated the prognostic impact of TME on survival to establish novel prognostic biomarkers in PCNSL patients.
View Article and Find Full Text PDFNeuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Am J Med Genet A
October 2024
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed.
View Article and Find Full Text PDFLongitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Mol Genet Metab
May 2024
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Growing interest in therapeutic development for rare diseases necessitate a systematic approach to the collection and curation of natural history data that can be applied consistently across this group of heterogenous rare diseases. In this study, we discuss the challenges facing natural history studies for leukodystrophies and detail a novel standardized approach to creating a longitudinal natural history study using existing medical records. Prospective studies are uniquely challenging for rare diseases.
View Article and Find Full Text PDFIdentification and validation of 5-methylcytosine-associated genes in diffuse large B-cell lymphoma.
Heliyon
November 2023
Department of Hematology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
5-methylcytosine modifications play a significant role in carcinogenesis; however, studies exploring 5-methylcytosine-related genes in diffuse large B-cell lymphoma patients are lacking. In this study, we aimed to understand the potential role and clinical prognostic impact of 5-methylcytosine regulators in diffuse large B-cell lymphoma and identify a prognostic biomarker based on 5-methylcytosine-associated genes. Gene expression profiles and corresponding clinical information of diffuse large B-cell lymphoma patients and normal controls were obtained from The Cancer Genome Atlas, Gene Expression Omnibus, and Genotype-Tissue Expression databases.
View Article and Find Full Text PDFA New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review.
J Mov Disord
January 2024
Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
Article Synopsis
- Tubulin beta 4A (TUBB4A) spectrum disorders can cause conditions like dystonia type 4 and H-ABC syndrome, but sometimes only lead to mild hypomyelination.
- A family case with a TUBB4A mutation presented complicated hereditary spastic paraplegia (HSP), prompting whole-exome sequencing to find the cause of their symptoms.
- Researchers identified a novel TUBB4A mutation in affected family members, which was linked to adult-onset spastic paraparesis and brain hypomyelination, while cognitive abilities remained intact.
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