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| http://dx.doi.org/10.1136/jmg.9.4.451 | DOI Listing |
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Complex Genetic Framework in Familial Amyotrophic Lateral Sclerosis With a C9ORF72 Mutation: A Case Report.
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Department of Surgery - Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
A significantly diverse clinical presentation of amyotrophic lateral sclerosis (ALS), even in its best-studied familial form, continues to hinder current efforts to develop effective disease-modifying drugs for the cure of this rapidly progressive, fatal neuromuscular disease. We have previously shown that clinical heterogeneity of sporadic ALS (sALS) could be explained, at least in part, by its polygenic nature as well as by the presence of mutated genes linked to non-ALS neurological diseases and genes known to mediate ALS-related pathologies. We hypothesized that a similar genetic framework could also be present in patients with familial ALS (fALS).
View Article and Find Full Text PDFPatients with advanced cancer in Uganda: Gender, social norms, and family relationship icebergs in the face of terminal illness.
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Department of Psychiatry and Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Objectives: Cancer is associated with physical, social, spiritual, and psychological changes in patients and their caregivers. However, in sub-Saharan Africa, there is lack of evidence on the impact of gender, social norms, and relationship dynamics in the face of terminal illness. The aim of this paper is to explore how gender identity, social norms, and power relations are impacted when a person is living in Uganda with advanced cancer.
View Article and Find Full Text PDFSingle-Cell RNA Sequencing Reveals the Cellular Origin and Evolution of Small-Cell Neuroendocrine Carcinoma of the Cervix.
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Small-cell neuroendocrine cancer (SCNEC) of the uterine cervix is an exceedingly rare, highly aggressive tumor with an extremely poor prognosis. The cellular heterogeneity, origin, and tumorigenesis trajectories of SCNEC of the cervix remain largely unclear. We performed single-cell RNA sequencing and whole-exome sequencing on tumor tissues and adjacent normal cervical tissues from two patients diagnosed with SCNEC of the cervix.
View Article and Find Full Text PDFUnlabelled: The deubiquitinating enzyme BAP1, the catalytic subunit of the PR-DUB complex, is implicated in several cancers, in the familial cancer syndrome BAP1 Tumor Predisposition Syndrome, and in the neurodevelopmental disorder Küry -Isidor syndrome. In there are numerous reports in the literature describing developmental patterning phenotypes for several chromatin regulators including the discovery of Polycomb itself, but corresponding adult morphological phenotypes caused by developmental dysregulation of ortholog ( ) are less well-described. We report here that knockdown of in the eye and wing produce concomitant chromatin dysregulation phenotypes.
View Article and Find Full Text PDFPurification and characterization of recombinant human mitochondrial proton-pumping nicotinamide nucleotide transhydrogenase.
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January 2025
Department of Biochemistry, University of Illinois at Urbana-Champaign, 600 South Mathews Avenue, Urbana, IL 61801, USA. Electronic address:
The human mitochondrial nicotinamide nucleotide transhydrogenase (NNT) uses the proton motive force to drive hydride transfer from NADH to NADP and is a major contributor to the generation of mitochondrial NADPH. NNT plays a critical role in maintaining cellular redox balance. NNT-deficiency results in oxidative damage and its absence results in familial glucocorticoid deficiency.
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