Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
Francesca Marta ElliGiovanna Mantovani

Abstract

The cyclic adenosine monophosphate (cAMP) intracellular signaling pathway mediates the physiological effects of several hormones and neurotransmitters, acting by the activation of G-protein coupled receptors (GPCRs) and several downstream intracellular effectors, including the heterotrimeric stimulatory G-protein (Gs), the cAMP-dependent protein kinase A (PKA), and cAMP-specific phosphodiesterases (PDEs). Defective G-protein-mediated signaling has been associated with an increasing number of disorders, including Albright hereditary osteodistrophy (AHO) and pseudohypoparathyroidism (PHP), a heterogeneous group of rare genetic metabolic disorders resulting from molecular defects at the GNAS locus. Moreover, mutations in PRKAR1A and PDE4D genes have been recently detected in patients with acrodysostosis (ACRDYS), showing a skeletal and endocrinological phenotype partially overlapping with AHO/PHP. Despite the high detection rate of molecular defects by currently available molecular approaches, about 30% of AHO/PHP patients still lack a molecular diagnosis, hence the need to screen patients negative for GNAS epi/genetic defects also for chromosomal regions and genes associated with diseases that undergo differential diagnosis with ...Continue Reading

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Citations

Oct 25, 2016·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Catherine Le StunffCaroline Silve
Mar 4, 2018·BMC Medical Genetics·Arrate PeredaGuiomar Perez de Nanclares
Nov 21, 2018·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Monica ReyesHarald Jüppner
Feb 1, 2019·Endocrinology, Diabetes & Metabolism Case Reports·Maria P YavropoulouJohn G Yovos
Apr 26, 2016·Nature Reviews. Endocrinology·Giovanna MantovaniFrancesca Marta Elli
Nov 15, 2017·Clinical Endocrinology·Xueying ChuXiaoping Xing
Sep 15, 2019·Genesis : the Journal of Genetics and Development·Yongkun ZhanGuoying Huang
Jul 30, 2020·The Biochemical Journal·Nikhil K TulsianGanesh S Anand
Aug 15, 2017·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Kaoru UeyamaKeiichi Ozono
Aug 1, 2019·Proceedings of the National Academy of Sciences of the United States of America·Tsan-Wen LuSusan S Taylor
Oct 11, 2017·Human Molecular Genetics·Claire BrietCaroline Silve
Jul 1, 2018·Nature Reviews. Endocrinology·Giovanna MantovaniAgnès Linglart
Sep 27, 2019·Frontiers in Endocrinology·Francesca Marta ElliGiovanna Mantovani
Dec 21, 2019·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·Monica ReyesHarald Jüppner
Nov 9, 2016·Journal of Molecular Biology·Jessica Gh BruystensSusan S Taylor
Apr 17, 2021·BMC Endocrine Disorders·Gunda PetraitytėEglė Preikšaitienė
May 15, 2021·Molecular and Cellular Endocrinology·Giovanna Mantovani, Francesca Marta Elli

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