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Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.
Nat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFDiscovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Am J Hum Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
View Article and Find Full Text PDFChemiluminescent Probe for Enhanced Visualization of Renal Ischemia-Reperfusion Injury via Pyroglutamate Aminopeptidase-1 Activation.
Anal Chem
January 2025
Anhui Province Key Laboratory of Major Autoimmune Diseases, Anhui Institute of Innovative Drugs, School of Pharmacy, Anhui Medical University, Hefei 230032, China.
The absence of an effective imaging tool for diagnosing renal ischemia-reperfusion injury (RIRI) severely delays its treatment, and currently, no definitive clinical interventions are available. Pyroglutamate aminopeptidase-1 (PGP-1), a potential inflammatory cytokine, has shown considerable potential as a biomarker for tracing the inflammatory process in vivo. However, its exact role in the enhanced visualization of RIRI in complex biological systems has yet to be fully established.
View Article and Find Full Text PDFAdvancements in molecular imaging probes for precision diagnosis and treatment of prostate cancer.
J Zhejiang Univ Sci B
January 2025
Department of Orthopedics, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
Prostate cancer is the second most common cancer in men, accounting for 14.1% of new cancer cases in 2020. The aggressiveness of prostate cancer is highly variable, depending on its grade and stage at the time of diagnosis.
View Article and Find Full Text PDFThe Association Between IL-8 Gene Polymorphisms and the Risk of Several Types of Cancer, Especially in Gastric Cancer.
Cancer Rep (Hoboken)
January 2025
Medical Oncology, Affiliated Hospital of Jiangnan University, Wuxi, China.
Background: Changes in functional genetic polymorphisms may increase or decrease the risk of cancer in patients. Nowadays, the association between polymorphisms in the interleukin-8 (IL-8) gene and the susceptibility of cancer risk have been investigated in many studies, however, above relationships remain unclear.
Aim: The current study aims to comprehensively evaluate the association between IL-8 gene six polymorphisms and the whole cancer risk, especially -251 polymorphism and gastric cancer.
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