The sex-determination cascade constitutes a model of the exquisite mechanisms of gene regulation that lead to the development of mammalian embryos. The discovery of the sex-determining region of the Y chromosome (SRY) in the early 1990s was the first crucial step towards a general understanding of sex determination. Since then, several genes that encode proteins with a role in this cascade, such as WT1, SF-1, SOX9, DAX-1 and WNT4, have been identified. Many of the interactions between these proteins have still to be elucidated, while, no-doubt, others are still to be identified. The study of mammalian intersexes forms a promising way towards the identification of the still-missing genes and a comprehensive view of mammalian sex determination. Intersexuality in the goat, studied for over a century, will, presumably, bring to light new genes involved in the female sex-determination pathway.
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http://dx.doi.org/10.1016/s0168-9525(00)02126-0 | DOI Listing |
Transl Vis Sci Technol
January 2025
Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD, USA.
Purpose: Uncorrected visual impairment (VI) significantly impacts life quality and exacerbates age-related health issues. Social determinants of health (SDOH) are associated with uncorrected VI, but quantitative evidence is limited. This study investigated the link between SDOH and uncorrected VI among aging adults to identify disparities and improve vision care.
View Article and Find Full Text PDFCells
January 2025
Institute of Anatomy & Cell Biology, Faculty of Medicine, Justus-Liebig-University, Aulweg 123, 35392 Giessen, Germany.
Vascular smooth muscle cell (SMC) relaxation by guanylyl cyclases (GCs) and cGMP is mediated by NO and its receptor soluble GC (sGC) or natriuretic peptides (NPs) ANP/BNP and CNP with the receptors GC-A and GC-B, respectively. It is commonly accepted that cultured SMCs differ from those in intact vessels. Nevertheless, cell culture often remains the first step for signaling investigations and drug testing.
View Article and Find Full Text PDFInvestig Clin Urol
January 2025
Department of Urology, Chungbuk National University Hospital, Cheongju, Korea.
Purpose: To describe the incidence and mortality of upper tract urothelial carcinoma (UTUC) from 2002-2020 using data from the Korean National Health Insurance Service, which contains data from the entire Korean population.
Materials And Methods: Reimbursement records for 43,255 patients diagnosed with primary UTUC (according to the International Classification of Disease 10th revision code C65 and C66) between 2002-2020 were retrieved. The study period was split into four: period I (2002-2005), period II (2006-2010), period III (2011-2015), and period IV (2016-2020).
Int J Rheum Dis
January 2025
Department of Rheumatology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Background: Right ventricular (RV) failure is a well-recognized pivotal prognostic factor of adverse outcomes in pulmonary artery hypertension (PAH), while RV dilation provides significant implications for adaptive or maladaptive changes. PAH is a predominant cause of mortality among patients with connective tissue disease (CTD). This study aims to elucidate the prognostic significance of RV morphology, as assessed by echocardiography (ECHO), in with CTD associated with PAH (CTD-PAH).
View Article and Find Full Text PDFJMIR Public Health Surveill
January 2025
School of Public Health, Imperial College London, London, United Kingdom.
Background: High response rates are needed in population-based studies, as nonresponse reduces effective sample size and bias affects accuracy and decreases the generalizability of the study findings.
Objective: We tested different strategies to improve response rate and reduce nonresponse bias in a national population-based COVID-19 surveillance program in England, United Kingdom.
Methods: Over 19 rounds, a random sample of individuals aged 5 years and older from the general population in England were invited by mail to complete a web-based questionnaire and return a swab for SARS-CoV-2 testing.
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