Literature DB >> 30390819

Pseudohypoparathyroidism.

Agnès Linglart1, Michael A Levine2, Harald Jüppner3.   

Abstract

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of uncommon, yet related metabolic disorders that are characterized by impaired activation of the Gsα/cAMP/PKA signaling pathway by parathyroid hormone (PTH) and other hormones that interact with Gsa-coupled receptors. Proximal renal tubular resistance to PTH and thus hypocalcemia and hyperphosphatemia, frequently in presence of brachydactyly, ectopic ossification, early-onset obesity, or short stature are common features of PHP. Registries and large cohorts of patients are needed to conduct clinical and genetic research, to improve the still limited knowledge regarding the underlying disease mechanisms, and allow the development of novel therapies.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Acrodysostosis; Brachydactyly; Early-onset obesity; GNAS; PTH resistance; Pseudohypoparathyroidism; Subcutaneous ossifications

Mesh：

Substances：

Year:  2018        PMID： 30390819      PMCID： PMC7305568          DOI： 10.1016/j.ecl.2018.07.011

Source DB:  PubMed          Journal:  Endocrinol Metab Clin North Am        ISSN： 0889-8529            Impact factor:   4.741


  15 in total

Review 1.  Diagnosis and management of hypocalcemia.

Authors:  Jessica Pepe; Luciano Colangelo; Federica Biamonte; Chiara Sonato; Vittoria Carmela Danese; Veronica Cecchetti; Marco Occhiuto; Valentina Piazzolla; Viviana De Martino; Federica Ferrone; Salvatore Minisola; Cristiana Cipriani
Journal:  Endocrine       Date:  2020-05-04       Impact factor: 3.633

Review 2.  Aberrant Bone Regulation in Albright Hereditary Osteodystrophy dueto Gnas Inactivation: Mechanisms and Translational Implications.

Authors:  Patrick McMullan; Emily L Germain-Lee
Journal:  Curr Osteoporos Rep       Date:  2022-02-28       Impact factor: 5.096

3.  Selective pharmacological inhibition of the sodium-dependent phosphate cotransporter NPT2a promotes phosphate excretion.

Authors:  Valerie Clerin; Hiroshi Saito; Kevin J Filipski; An Hai Nguyen; Jeonifer Garren; Janka Kisucka; Monica Reyes; Harald Jüppner
Journal:  J Clin Invest       Date:  2020-12-01       Impact factor: 14.808

4.  Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case.

Authors:  Bruna Lixinski Diniz; Andressa Barreto Glaeser; Desirée Deconte; Bruna Baierle Guaraná; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Journal:  J Pediatr Genet       Date:  2020-02-12

5.  Lower Leg Arterial Calcifications Assessed by High-Resolution Peripheral Quantitative Computed Tomography in Hypoparathyroid and Pseudohypoparathyroid Patients.

Authors:  Catharina Vind Nielsen; Line Underbjerg; Diana Grove-Laugesen; Tanja Sikjaer; Lars Rejnmark
Journal:  Calcif Tissue Int       Date:  2021-02-12       Impact factor: 4.333

Review 6.  Management of pseudohypoparathyroidism.

Authors:  Emily L Germain-Lee
Journal:  Curr Opin Pediatr       Date:  2019-08       Impact factor: 2.856

7.  GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children.

Authors:  Petra Loid; Minna Pekkinen; Monica Reyes; Taina Mustila; Heli Viljakainen; Harald Jüppner; Outi Mäkitie
Journal:  Front Pediatr       Date:  2020-04-07       Impact factor: 3.418

8.  Proteomic Profiling Change and Its Implies in the Early Mycosis Fungoides (MF) Using Isobaric Tags for Relative and Absolute Quantification (iTRAQ).

Authors:  Mengyan Zhu; Yong Li; Cheng Ding; Jiaqi Wang; Yangyang Ma; Zhao Li; Xiaoyan Zhang; Ping Wang
Journal:  Biomed Res Int       Date:  2020-11-23       Impact factor: 3.411

9.  Parental Origin of Gsα Inactivation Differentially Affects Bone Remodeling in a Mouse Model of Albright Hereditary Osteodystrophy.

Authors:  Patrick McMullan; Peter Maye; Qingfen Yang; David W Rowe; Emily L Germain-Lee
Journal:  JBMR Plus       Date:  2021-11-16

10.  High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.

Authors:  Jennifer Danzig; Dong Li; Suzanne Jan de Beur; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2021-10-21       Impact factor: 6.134
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