Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H.
J Clin Endocrinol Metab. 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060.
PTH, FGF-23, Klotho and Vitamin D as regulators of calcium and phosphorus: Genetics, epigenetics and beyond.
Portales-Castillo I, Simic P.
Front Endocrinol (Lausanne). 2022 Sep 29;13:992666. doi: 10.3389/fendo.2022.992666. eCollection 2022.
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.
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.
GNAS Spectrum of Disorders.
Turan S, Bastepe M.
Curr Osteoporos Rep. 2015 Jun;13(3):146-58. doi: 10.1007/s11914-015-0268-x.
Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.
Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky IB, Tebben P, Jüppner H.
J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1610-e1619. doi: 10.1210/clinem/dgab830.
Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.
Krishnan N, McMullan P, Yang Q, Buscarello AN, Germain-Lee EL.
PLoS One. 2023 Jan 20;18(1):e0280463. doi: 10.1371/journal.pone.0280463. eCollection 2023.
Genetics of hypoparathyroidism and pseudohypoparathyroidism.
Brandi ML.
J Endocrinol Invest. 2011 Jul;34(7 Suppl):27-34.
Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.
Perez KM, Lee EB, Kahanda S, Duis J, Reyes M, Jüppner H, Shoemaker AH.
Am J Med Genet A. 2018 Feb;176(2):283-289. doi: 10.1002/ajmg.a.38534. Epub 2017 Nov 28.
Madelung-like deformity in pseudohypoparathyroidism type 1b.
Sanchez J, Perera E, Jan de Beur S, Ding C, Dang A, Berkovitz GD, Levine MA.
J Clin Endocrinol Metab. 2011 Sep;96(9):E1507-11. doi: 10.1210/jc.2011-1411. Epub 2011 Jul 13.
