Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family
Biallelic PCSK1 loss‐of‐function mutations cause proprotein convertase 1/3 (PC1/3) deficiency, a polyendocrinopathy; a total of 36 patients were reported. The first deep intronic PCSK1 variant, (NM_000439.5):c.1196+2681T>A, was found to segregate with the disease in a consanguineous family, and is shown together with 32 reported mutations.
Leah M. Huber+6 more
wiley +1 more source
The role of hypothalamus-pituitary-adrenal (HPA)-like axis in inflammatory pilosebaceous disorders [PDF]
Skin is the largest peripheral endocrine organ and functions as a hormone target and endocrine gland. A cutaneous hypothalamus-pituitary-adrenal (HPA)-like axis enables the skin to respond to stress and regulates its steroidogenic activity.
Clark, Ashley K+3 more
core
Effect of NDP-a-MSH on PPAR-c and –b Expression and Anti-Inflammatory Cytokine Release in Rat Astrocytes and Microglia [PDF]
Brain inflammation plays a central role in numerous brain pathologies. Microglia and astrocytes are the main effector cells that become activated when an inflammatory process takes place within the central nervous system. a-melanocytestimulating hormone (
Carniglia, Lila+3 more
core +1 more source
New Anti‐Fibrotic Strategies for Keloids: Insights From Single‐Cell Multi‐Omics
Our research not only revealed the ubiquity and activity of POSTN‐positive mesenchymal fibroblasts in keloids but also discovered the predominant role of IGFBP2‐positive fibroblasts in normal skin and their potential significance in the process of anti‐fibrotic therapy.
Songyun Zhao+16 more
wiley +1 more source
Organoid Models to Study Human Infectious Diseases
Our manuscript reviews the role of organoids as models for studying human infectious diseases, highlighting their irreplaceable contributions to drug testing and vaccine development for significant infectious diseases including HIV, ZIKV, SARS‐CoV‐2 and MPXV.
Sijing Zhu+4 more
wiley +1 more source
5-ht inhibition of rat insulin 2 promoter cre recombinase transgene and proopiomelanocortin neuron excitability in the mouse arcuate nucleus [PDF]
A number of anti-obesity agents have been developed that enhance hypothalamic 5-HT transmission. Various studies have demonstrated that arcuate neurons, which express proopiomelanocortin peptides (POMC neurons), and neuropeptide Y with agouti-related ...
A.I. Choudhury+49 more
core +3 more sources
This article elaborates on the role of NK cells in early pregnancy from multiple perspectives, including molecular mechanisms and therapeutic interventions. It also discusses how NK cell dysfunction contributes to RSA and RIF, aiming to provide insights for future research on NK cell mechanisms and clinical treatment of RSA and RIF.
Defeng Guan+5 more
wiley +1 more source
Pathophysiology of melanocortin receptors and their accessory proteins. [PDF]
The melanocortin receptors (MCRs) and their accessory proteins (MRAPs) are involved in regulation of a diverse range of endocrine pathways. Genetic variants of these components result in phenotypic variation and disease. The MC1R is expressed in skin and
A.J.L. Clark+126 more
core +2 more sources
Obesity and the gut microbiota: implications of neuroendocrine and immune signaling
An unhealthy diet impairs the symbiotic relationship between the gut microbiota and the host, contributing to obesity. At the intestinal level, identification of host–microbe events essential for proper neuroendocrine/immune signaling is key to the development of microbiome‐based strategies to promote metabolic health in obesity (probiotics ...
Marina Romaní‐Pérez+6 more
wiley +1 more source
Melanocortin peptides protect chondrocytes from mechanically induced cartilage injury [PDF]
Introduction Mechanical injury can greatly influence articular cartilage, propagating inflammation, cell injury and death – risk factors for the development of osteoarthritis.
Alexander+93 more
core +1 more source