Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114421 | PMC |
| http://dx.doi.org/10.1186/s13018-023-03741-5 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFSalivary steroids in acute central serous chorioretinopathy.
Int Ophthalmol
January 2025
University of Pittsburgh, UPMC Eye Center, 203 Lothrop Street, Pittsburgh, PA, 15213, USA.
Purpose: To analyze levels of salivary steroids, including 17-OH-progesterone (17-OHP), androstenedione, dehydroepiandrosterone, cortisol, cortisone, progesterone, testosterone, and estradiol, in patients with acute central serous chorioretinopathy (CSCR) patients.
Methods: Acute CSCR patients and healthy individuals were included in this observational case-control study. Levels of salivary steroids were determined by high-performance liquid chromatography with tandem mass spectrometry detection.
Changes in physical characteristics of extreme rainfall events during the Indian summer monsoon based on downscaled and bias-corrected CMIP6 models.
Sci Rep
January 2025
Centre for Earth, Ocean and Atmospheric Sciences, School of Physics, University of Hyderabad, Hyderabad, India.
We identified a set of bias-corrected and downscaled Coupled Model Intercomparison Project 6 (CMIP6) models capable of accurately simulating the observed mean Indian summer monsoon rainfall, extreme rain events (EREs) and their respective interannual variability. The future changes in EREs projected by these models for four climate change scenarios-Shared Socioeconomic Pathways (SSPs), 1-2.6, 2-4.
View Article and Find Full Text PDFCharacterization of the N- and C-terminal domain interface of the three main apoE isoforms: A combined quantitative cross-linking mass spectrometry and molecular modeling study.
Biochim Biophys Acta Gen Subj
January 2025
Center for Structural Biology and Bioinformatics, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Apolipoprotein E (apoE) polymorphism is associated with different pathologies such as atherosclerosis and Alzheimer's disease. Knowledge of the three-dimensional structure of apoE and isoform-specific structural differences are prerequisites for the rational design of small molecule structure modulators that correct the detrimental effects of pathological isoforms. In this study, cross-linking mass spectrometry (XL-MS) targeting Asp, Glu and Lys residues was used to explore the intramolecular interactions in the E2, E3 and E4 isoforms of apoE.
View Article and Find Full Text PDFPrevalence and Clinical Associations of Peripapillary Hyperreflective Ovoid Mass-like Structures in Craniosynostosis.
J Neuroophthalmol
January 2025
Department of Ophthalmology (JGJ-C, TE, Y-HC, LRD, RAG), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Frank H. Netter Medical School (JGJ-C), North Haven, Connecticut; and Department of Anesthesiology (DZ), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Background: Patients with craniosynostosis are at high risk of developing elevated intracranial pressure (ICP) causing papilledema and secondary optic atrophy. Diagnosing and monitoring optic neuropathy is challenging because of multiple causes of vision loss including exposure keratopathy, amblyopia, and cognitive delays that limit examination. Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are an optical coherence tomography (OCT) finding reported in association with papilledema and optic neuropathy.
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!