A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.
Urakawa T, Huang H, Nagai T, Hattori A, Kawasaki T, Saitsu H, Akutsu H, Fukami M, Kagami M.
Clin Epigenetics. 2026 Mar 16. doi: 10.1186/s13148-026-02107-y. Online ahead of print.
PMID:41840633
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.
PMID:37965945
Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B.
Iwasaki Y, Reyes M, Ryabets-Lienhard A, Gales B, Linglart A, Miller DE, Salusky IB, Bastepe M, Jüppner H.
Proc Natl Acad Sci U S A. 2025 Apr 22;122(16):e2423271122. doi: 10.1073/pnas.2423271122. Epub 2025 Apr 18.
PMID:40249781
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.
PMID:34791361
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.
PMID:36662765
Madelung-like deformity in pseudohypoparathyroidism type 1b.
Sanchez J, Perera E, Jan de Beur S, Ding C, Dang A, Berkovitz GD, Levine MA.