Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H.
J Clin Endocrinol Metab. 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060.
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim S, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS.
N Engl J Med. 2021 Oct 21;385(17):1581-1592. doi: 10.1056/NEJMoa2103329. Epub 2021 Oct 6.
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Urakawa T, Sano S, Kawashima S, Nakamura A, Shima H, Ohta M, Yamada Y, Nishida A, Narusawa H, Ohtsu Y, Matsubara K, Dateki S, Maruo Y, Fukami M, Ogata T, Kagami M.
Eur J Endocrinol. 2023 Dec 6;189(6):590-600. doi: 10.1093/ejendo/lvad163.
SNAREs and developmental disorders.
Tang BL.
J Cell Physiol. 2021 Apr;236(4):2482-2504. doi: 10.1002/jcp.30067. Epub 2020 Sep 22.
The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis.
Iwasaki Y, Aksu C, Reyes M, Ay B, He Q, Bastepe M.
J Clin Invest. 2023 Apr 17;133(8):e167953. doi: 10.1172/JCI167953.
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.
Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi K, Akutsu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M.
J Bone Miner Res. 2022 Oct;37(10):1850-1859. doi: 10.1002/jbmr.4652. Epub 2022 Aug 17.
Pseudohypoparathyroidism type 1 B mimicking Fahr's disease in a 28-year-old female: A case report.
Acharya S, Yadav SK, Nepal G, Bhandari S, Lal Bhattarai S, Pathak S, Kandel B, Gautam J, Bhandari R.
Clin Case Rep. 2022 Feb 6;10(2):e05418. doi: 10.1002/ccr3.5418. eCollection 2022 Feb.
Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).
Miller DE, Hanna P, Galey M, Reyes M, Linglart A, Eichler EE, Jüppner H.
J Bone Miner Res. 2022 Sep;37(9):1711-1719. doi: 10.1002/jbmr.4647. Epub 2022 Aug 3.
Pseudohypoparathyroidism: one gene, several syndromes.
Tafaj O, Jüppner H.
J Endocrinol Invest. 2017 Apr;40(4):347-356. doi: 10.1007/s40618-016-0588-4. Epub 2016 Dec 19.
Pseudohypoparathyroidism: complex disease variants with unfortunate names.
Jüppner H.
J Mol Endocrinol. 2023 Dec 12;72(1):e230104. doi: 10.1530/JME-23-0104. Print 2024 Jan 1.
