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Biomarker discovery in progressive supranuclear palsy from human cerebrospinal fluid.
Clin Proteomics
September 2024
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Background: Progressive supranuclear palsy (PSP) is a neurodegenerative disorder often misdiagnosed as Parkinson's Disease (PD) due to shared symptoms. PSP is characterized by the accumulation of tau protein in specific brain regions, leading to loss of balance, gaze impairment, and dementia. Diagnosing PSP is challenging, and there is a significant demand for reliable biomarkers.
View Article and Find Full Text PDFComprehensive analysis of peroxisome proliferator-activated receptors to predict the drug resistance, immune microenvironment, and prognosis in stomach adenocarcinomas.
PeerJ
March 2024
Department of Gastroenterology, Zibo Central Hospital, Zibo, China.
Background: Peroxisome proliferator-activated receptors (PPARs) exert multiple functions in the initiation and progression of stomach adenocarcinomas (STAD). This study analyzed the relationship between PPARs and the immune status, molecular mutations, and drug therapy in STAD.
Methods: The expression profiles of three PPAR genes (PPARA, PPARD and PPARG) were downloaded from The Cancer Genome Atlas (TCGA) dataset to analyze their expression patterns across pan-cancer.
Clinical Presentation and Genomic Analysis of HPV-Related Squamous Cell Carcinoma of the Larynx in Two Young Female Patients.
Cureus
November 2023
Medical Oncology, London Health Sciences Center, London, CAN.
Laryngeal cancer most frequently develops in males aged 60-70 years with a history of tobacco and/or alcohol use, while fewer cases occur in young patients in which tobacco and alcohol are often absent or less significant, highlighting the importance of other etiologies. We present cases of human papillomavirus (HPV)-associated laryngeal cancer in two previously healthy young women. A retrospective case review was carried out for both patients.
View Article and Find Full Text PDFAutosomal dominant cerebellar ataxias: new genes and progress towards treatments.
Lancet Neurol
August 2023
Sorbonne Université, ICM Institut du Cerveau, Pitié-Salpeêtrieère University Hospital, Paris, France; Institut National de la Santé Et de la Recherche Médicale, Paris, France; Centre National de la Recherche Scientifique, Paris, France; Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:
Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in the past 5 years with the inclusion of SCA37/DAB1, SCA45/FAT2, SCA46/PLD3, SCA47/PUM1, SCA48/STUB1, SCA50/NPTX1, SCA25/PNPT1, SCA49/SAM9DL, and SCA27B/FGF14. In some patients, co-occurrence of multiple potentially pathogenic variants can explain variable penetrance or more severe phenotypes.
View Article and Find Full Text PDFUterus proliferative period ceRNA network of Yunshang black goat reveals candidate genes on different kidding number trait.
Front Endocrinol (Lausanne)
June 2023
Key Laboratory of Animal Genetics, Breeding and Reproduction of Ministry of Agriculture and Rural Affairs, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.
Pregnancy loss that occurs in the uterus is an important and widespread problem in humans and farm animals and is also a key factor affecting the fecundity of livestock. Understanding the differences in the fecundity of goats may be helpful in guiding the breeding of goats with high fecundity. In this study, we performed RNA sequencing and bioinformatics analysis to study the uterus of Yunshang black goats with high and low fecundity in the proliferative period.
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