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(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. Urakawa T, et al. Eur J Endocrinol. 2023 Dec 6;189(6):590-600. doi: 10.1093/ejendo/lvad163. Eur J Endocrinol. 2023. PMID: 38039118
OBJECTIVE: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. ...
OBJECTIVE: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions …
An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.
Ramalho E Silva JD, da Rocha GFMA, Oliveira MJM. Ramalho E Silva JD, et al. Arch Endocrinol Metab. 2021 Nov 1;65(1):112-116. doi: 10.20945/2359-3997000000316. Epub 2020 Dec 15. Arch Endocrinol Metab. 2021. PMID: 33320452 Free PMC article. Review.
Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic pseudohypoparathyroidism type 1B. A 34-year-old Caucasian woman was admitted to the emergency department, with persisten …
Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic …
High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects.
Danzig J, Li D, Jan de Beur S, Levine MA. Danzig J, et al. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4603-e4620. doi: 10.1210/clinem/dgab460. J Clin Endocrinol Metab. 2021. PMID: 34157100 Free PMC article.
CONTEXT: Patients with pseudohypoparathyroidism type 1b (PHP1b) show disordered imprinting of the maternal GNAS allele or paternal uniparental disomy (UPD). ...
CONTEXT: Patients with pseudohypoparathyroidism type 1b (PHP1b) show disordered imprinting of the maternal GNAS allele …
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F. Pignata L, et al. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 Free PMC article.
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15.5 and 20q13.32, respectively. ...
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID …
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q.
Dixit A, Chandler KE, Lever M, Poole RL, Bullman H, Mughal MZ, Steggall M, Suri M. Dixit A, et al. J Clin Endocrinol Metab. 2013 Jan;98(1):E103-8. doi: 10.1210/jc.2012-2639. Epub 2012 Nov 8. J Clin Endocrinol Metab. 2013. PMID: 23144470 Review.
CONTEXT: Pseudohypoparathyroidism type 1b (PHP1b) is the result of end-organ resistance to PTH and other hormones such as TSH in the absence of any features of Albright's hereditary osteodystrophy. ...
CONTEXT: Pseudohypoparathyroidism type 1b (PHP1b) is the result of end-organ resistance to PTH and other hormones such …
Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B.
Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS. Neary NM, et al. J Clin Endocrinol Metab. 2012 Sep;97(9):3025-30. doi: 10.1210/jc.2012-1655. Epub 2012 Jun 26. J Clin Endocrinol Metab. 2012. PMID: 22736772 Free PMC article.
CONTEXT: Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop hypocalcemia and secondary hyperparathyroidism. ...
CONTEXT: Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop …
Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b.
Kinoshita K, Minagawa M, Takatani T, Takatani R, Ohashi M, Kohno Y. Kinoshita K, et al. Endocr J. 2011;58(10):879-87. doi: 10.1507/endocrj.k10e-364. Epub 2011 Aug 11. Endocr J. 2011. PMID: 21836370 Free article.
Pathogenesis of pseudohypoparathyroidism type 1b (PHP-1b) is related to the loss of methylation at the GNAS exon A/B region, which is combined with epigenetic defects at other differentially methylated GNAS regions in most sporadic cases. ...
Pathogenesis of pseudohypoparathyroidism type 1b (PHP-1b) is related to the loss of methylation at the GNAS exon A/B re …
Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.
Vlachopapadopoulou EA, Anagnostou E, Dikaiakou E, Hanna P, Tsolia M, Michalacos S, Linglart A, Karavanaki K. Vlachopapadopoulou EA, et al. J Pediatr Endocrinol Metab. 2020 Nov 26;33(11):1475-1479. doi: 10.1515/jpem-2020-0192. J Pediatr Endocrinol Metab. 2020. PMID: 33027051
Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parath …
Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b …
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
Maupetit-Méhouas S, Azzi S, Steunou V, Sakakini N, Silve C, Reynes C, Perez de Nanclares G, Keren B, Chantot S, Barlier A, Linglart A, Netchine I. Maupetit-Méhouas S, et al. Hum Mutat. 2013 Aug;34(8):1172-80. doi: 10.1002/humu.22352. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649963
Most patients with pseudohypoparathyroidism type 1b (PHP-1b) display a loss of imprinting (LOI) encompassing the GNAS locus resulting in PTH resistance. ...
Most patients with pseudohypoparathyroidism type 1b (PHP-1b) display a loss of imprinting (LOI) encompassing the GNAS l …
19 results