Results 31 to 40 of about 120,496 (233)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Phosphatemia is an Independent Prognostic Factor in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective The objective of this study was to evaluate the prognostic value of several muscle damage biomarkers. Methods Data from Piemonte and Valle d'Aosta Amyotrophic Lateral Sclerosis (PARALS) were considered for this study. Survival was defined as the time from diagnosis to death, tracheostomy, or the censoring date.
Rosario Vasta, Emanuele Koumantakis, Antonio Canosa, Umberto Manera, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Filippo Vergnano, Jessica Mandrioli, Cecilia Simonini, Ilaria Martinelli, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Adriano Chiò   +18 more
wiley   +1 more source

Review of the anatomical basis for predicting plutonium alpha particle radiation induced osteogenic cancers

The Anatomical Record, EarlyView.
Abstract Plutonium was discovered and first synthesized in the early 1940's. Several isotopes of plutonium are used in nuclear technologies, 238Pu for heat generation and 239Pu for energy production and weapons. Both isotopes emit alpha particles, which pose a significant radiation hazard when incorporated into the body.
Scott C. Miller
wiley   +1 more source

Expert Perspective: How, When, and Why to Potentially Stop Antiresorptive Drugs in Osteoporosis

Arthritis &Rheumatology, EarlyView.
Osteoporosis is a chronic disease, and antiresorptive treatments are often continued for many years. Despite their established efficacy in reducing fracture risk, the most commonly used antiresorptive treatments, bisphosphonates and denosumab, have short‐ and long‐term risks that, coupled with their benefits and other unique characteristics, influence ...
Giovanni Adami, Kenneth G. Saag
wiley   +1 more source

Selection of DNA Aptamers Against Parathyroid Hormone for Electrochemical Impedimetric Biosensor System Development

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT This work presents the pioneering development of an aptamer‐based electrochemical biosensor for real‐time monitoring of parathyroid hormone (PTH) levels, with a focus on intraoperative assessment during parathyroid surgery. It introduces, for the first time, the selection and characterization of aptamers targeting distinct segments of the PTH ...
Reza Didarian, Saharnaz Bargh, Almina Gülerman, Veli Cengiz Özalp, Özcan Erel, Nimet Yildirim‐Tirgil   +5 more
wiley   +1 more source

Deciphering the skeletal interoceptive circuitry to control bone homeostasis

BMEMat, EarlyView.
This review introduces the skeletal interoceptive circuitry, covering the ascending signals from bone tissues to the brain (sensors), the central neural circuits that integrate this information and dispatch commands (CPU), and the descending pathways that regulate bone homeostasis (effectors).
Yefeng Wu, Jiusi Guo, Zhen Chen, Fengwei Zhang, Billy Kwok Chong Chow, Zhuofan Chen, Kelvin Wai‐Kwok Yeung, Wei Qiao   +7 more
wiley   +1 more source

Cardiovascular actions of parathyroid hormone and parathyroid hormone-related peptide [PDF]

Cardiovascular Research, 1998
Cardiovascular cells (cardiomyocytes and smooth muscle cells) are target cells for parathyroid hormone (PTH) and the structurally related peptide parathyroid hormone-related peptide (PTH-rP). PTH activates protein kinase C (PKC) of cardiomyocytes via a PKC activating domain previously identified on chondrocytes.
Klaus-Dieter Schlüter, Hans Michael Piper   +1 more
openaire   +3 more sources

Adjuvant pharmacological strategies for the musculoskeletal system during long‐term space missions

British Journal of Clinical Pharmacology, EarlyView., 2023
Abstract Despite 2 h of daily exercise training, muscle wasting and bone loss are still present after 6‐month missions to the international space station. Some crew members lose bone much faster than others. In preparation for missions to the Moon and Mars, space agencies are therefore reviewing their countermeasure portfolios.
Friederike Thomasius, Dominik Pesta, Jörn Rittweger   +2 more
wiley   +1 more source

The Diagnostic Accuracy of High Resolution Ultrasound Imaging for Detection of Secondary Hyperparathyroidism in Patients with Chronic Renal Failure [PDF]

Ultrasound is one of the preferred modalities for evaluation of the parathyroid glands. This study was undertaken to determine the accuracy of high resolution ultrasound for secondary hyperparathyroidism in patients with chronic renal failure. From March
اناری, حسن, بشردوست, بهمن, رفاهی, سهیلا, پورعیسی, مسعود   +3 more
core  

The role of the PTHrP/Ihh feedback loop in the unusual growth plate location in mammalian metatarsals and pisiforms

Developmental Dynamics, EarlyView.
Abstract Background Longitudinal skeletal growth takes place in the cartilaginous growth plates. While growth plates are found at either end of conventional long bones, they occur at a variety of locations in the mammalian skeleton. For example, the metacarpals and metatarsals (MT) in the hands and feet form only a single growth plate at one end, and ...
Philip L. Reno, Sherrie Wallace, Sarah N. Doelp, Maria Biancaniello, Kelsey M. Kjosness   +4 more
wiley   +1 more source