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Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
Brain Commun
June 2024
Developmental Biology and Cancer Department, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Article Synopsis
- * Mutations in PDE4D are responsible for acrodysostosis type 2 (ACRDYS2), leading to intellectual disabilities in 90% of patients and causing physical skeletal abnormalities similar to another condition known as ACRDYS1.
- * Two main hypotheses explain the impact of PDE4D mutations: the 'over-activation hypothesis' suggests that mutations increase PDE4D activity, lowering cAMP levels, while the 'over-compensation hypothesis' argues that
Evaluation of polysomnography findings in children with genetic skeletal disorders.
J Sleep Res
October 2023
Division of Pulmonology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Children with genetic skeletal disorders have variable conditions that can lead to sleep-disordered breathing, and polysomnography is the gold standard for diagnosing this condition. We aimed to review polysomnography findings, to assess the severity of sleep apnea, and to investigate the clinical variables predictive of sleep-disordered breathing in these patients. We retrospectively collected the medical records of patients with genetic skeletal disorders who underwent polysomnography for 5 years.
View Article and Find Full Text PDFGs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gs-PKA Signaling.
Pharmacol Rev
October 2021
Department of Pharmacology (D.J.R., N.A., J.S.G.), Department of Chemistry and Biochemistry (S.S.T.), and Moores Cancer Center (D.J.R., N.A., J.S.G.), University of California, San Diego, La Jolla, California; Laboratorio di Biologia Bio@SNS, Scuola Normale Superiore, Pisa, Italy (F.R.); and Department of Biochemistry, University of Kassel, Kassel, Germany (F.W.H.)
Many of the fundamental concepts of signal transduction and kinase activity are attributed to the discovery and crystallization of cAMP-dependent protein kinase, or protein kinase A. PKA is one of the best-studied kinases in human biology, with emphasis in biochemistry and biophysics, all the way to metabolism, hormone action, and gene expression regulation. It is surprising, however, that our understanding of PKA's role in disease is largely underappreciated.
View Article and Find Full Text PDF[Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology].
Arch Argent Pediatr
August 2021
Neumología Infantil, Servicio de Pediatría, Complejo Hospitalario de Navarra. IdisNa, Instituto de investigación sanitaria de Navarra, España.
Acrodysostosis is a rare skeletal displasia, of autosomal dominant inheritance, characterized by the presence of facial and peripheral dysostosis, short stature and obesity. Type 1 acrodysostosis is secondary to a mutation in the PRKAR1A (17q24.2) gene, which results in multi hormonal resistance and skeletal anomalities.
View Article and Find Full Text PDFSleep-disordered breathing and its management in children with rare skeletal dysplasias.
Am J Med Genet A
July 2021
AP-HP, Hôpital Necker-Enfants Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.
Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020.
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