Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.
Neurol Genet
February 2025
Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.
In the late 1800s, Nikolaus Friedreich first described "degenerative atrophy of the posterior columns of the spinal cord," noting its connection to progressive ataxia, sensory loss, and muscle weakness, now recognized as Friedreich ataxia (FRDA). Renewed interest in the disease in the 1970s and 80s by the Quebec Cooperative Group and by Anita Harding led to the development of clinical diagnostic criteria and insights into associated biochemical abnormalities, although the primary defect remained unknown. In 1988, Susan Chamberlain mapped FRDA's location on chromosome 9.
View Article and Find Full Text PDFBackground: AML-M4Eo is a type of AML characterized by malignant proliferation of granulocyte and monocyte precursor cells accompanied by eosinophilia. Patients present as anemia, infection, bleeding, and tissue and organ infiltration. MICM classification makes the classification of AML more accurate and lays a foundation for the correct treatment and prognosis of AML.
View Article and Find Full Text PDFThe telomere connection between aging and cancer: The burden of replication stress and dysfunction.
Mech Ageing Dev
January 2025
Department of Medicine, Academy of Applied Medical and Social Sciences-AMiSNS: Akademia Medycznych I Spolecznych Nauk Stosowanych-2 Lotnicza Street, 82-300 Elbląg, Poland; Department of General Surgery and Surgical Oncology, "Saint Wojciech" Hospital, "Nicolaus Copernicus" Health Center, Jana Pawła II 50, 80-462 Gdańsk, Poland.
Aging is a complex process that affects individuals at the molecular, cellular, tissue, and systemic levels, arising from the cumulative effects of damage and diminished repair mechanisms. This process leads to the onset of age-related diseases, including cancer, which exhibits increased incidence with age. Telomeres, the protective caps at chromosome ends, play a crucial role in genome stability and are closely connected with aging and age-related disorders.
View Article and Find Full Text PDFNASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease".
Int J Cardiovasc Imaging
January 2025
Michigan Medicine, University Hospital, Floor B1 Reception C 1500 E Medical Center Dr SPC 5030, Ann Arbor, MI, 48109, USA.
Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder that can result in cardiac dysfunction including left ventricular hypertrophy (LVH) and conduction abnormalities (Frontiers in cardiovascular medicine vol. 10) [1]. The manifestations of AFD in women may be isolated to one organ and occur late in life due to the random inactivation of the X chromosome.
View Article and Find Full Text PDFOligo-FISH barcode chromosome identification system provides novel insights into the natural chromosome aberrations propensity in the autotetraploid cultivated alfalfa.
Hortic Res
January 2025
Key Laboratory of Xinjiang Phytomedicine Resource and Utilization of Ministry of Education, Key Laboratory of Oasis Town and Mountain-basin System Ecology of Xinjiang Production and Construction Corps, College of Life Sciences, Shihezi University, Shihezi 832003, China.
Alfalfa is one of the most economically valuable forage crops in the world. However, molecular cytogenetic studies in alfalfa lag far behind other cash crops and have reached a bottleneck. Here, we developed a novel chromosome identification system by designing 21 oligo probes in specific regions of each chromosome, which can be used as a barcode to simultaneously distinguish all chromosomes in a cell.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!