Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli +12 more
wiley +1 more source
Clinical and genetic characteristics of boys with congenital hypogonadotropic hypogonadism: a single-center experience. [PDF]
Fu D +5 more
europepmc +1 more source
ABSTRACT Background While male breast cancer incidence is rare, veteran status is found to be associated with increased risk, for incidence, a higher prevalence of male breast cancer patients was observed among male veteran prostate cancer survivors.
Erum Z. Whyne +5 more
wiley +1 more source
Options for Final Oocyte Maturation Trigger: Can the Ovarian Response Prediction Index (ORPI) Guide the Optimal Choice? [PDF]
Franco Junior JG +3 more
europepmc +1 more source
A Novel Human Cellular System for Studying Normal Aging and for Anti‐Aging Discovery
This study introduces a human cellular aging model using placental trophoblasts (hTSC‐STBs) that mimics key aging features like senescence and genomic instability. It aligns with human tissue aging and responds to anti‐aging treatments, offering a scalable platform to screen potential therapies and bridge lab findings to clinical applications ...
Zhen Feng +14 more
wiley +1 more source
Effect of type 2 diabetes mellitus on sperm quality and outcomes of assisted reproductive techniques in infertile male patients. [PDF]
Wang R +5 more
europepmc +1 more source
A schematic showing decreased PTGES2 farnesylation in granulosa cells compromises PGE2‐dependent cumulus expansion and oocyte maturation during ovarian aging. In young ovaries, PTGES2 farnesylation of GCs regulates the process of cumulus expansion and oocyte maturation by facilitating PGE2 production.
Sainan Zhang +14 more
wiley +1 more source
Recurrent Beta-Human Chorionic Gonadotropin (β-hCG) Elevation and Suspicion of Gestational Trophoblastic Neoplasia Following a Complete Hydatidiform Mole in a 17-Year-Old Female Patient: A Case Report. [PDF]
Mujkanovic-Dzino A +2 more
europepmc +1 more source
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem +6 more
wiley +1 more source

