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Page 1
Gigantism: X-linked acrogigantism and GPR101 mutations.
Iacovazzo D, Korbonits M. Iacovazzo D, et al. Growth Horm IGF Res. 2016 Oct-Dec;30-31:64-69. doi: 10.1016/j.ghir.2016.09.007. Epub 2016 Sep 29. Growth Horm IGF Res. 2016. PMID: 27743704 Review.
While the physiological function and the endogenous ligand of GPR101 are unknown, the high expression of GPR101 in the arcuate nucleus and the occurrence of increased circulating GHRH levels in some patients with XLAG, suggest that increased hypothalamic GHRH secret …
While the physiological function and the endogenous ligand of GPR101 are unknown, the high expression of GPR101 in the arcuate …
Genetics of pituitary adenomas.
Shaid M, Korbonits M. Shaid M, et al. Neurol India. 2017 May-Jun;65(3):577-587. doi: 10.4103/neuroindia.NI_330_17. Neurol India. 2017. PMID: 28488625 Free article. Review.
While somatic mutations have been identified in GNAS, USB8, PIK3CA, GPR101 and rarely in RAS, germline mutations have been identified in MEN1, cyclin dependent kinase inhibitor genes, AIP, DICER1, PRKAR1A, PRKACA, SDH genes and GPR101. ...
While somatic mutations have been identified in GNAS, USB8, PIK3CA, GPR101 and rarely in RAS, germline mutations have been identified …
Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly.
Hou ZS, Tao YX. Hou ZS, et al. Prog Mol Biol Transl Sci. 2019;161:47-67. doi: 10.1016/bs.pmbts.2018.10.003. Epub 2018 Nov 23. Prog Mol Biol Transl Sci. 2019. PMID: 30711029 Review.
X-linked acrogigantism (XLAG) is a recently described early-onset gigantism due to GPR101 duplication that induces growth hormone (GH) oversecretion. GPR101, which belongs to Family A rhodopsin-like family of G protein-coupled receptors, is predominantly expressed i …
X-linked acrogigantism (XLAG) is a recently described early-onset gigantism due to GPR101 duplication that induces growth hormone (GH …
Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.
Franke M, Daly AF, Palmeira L, Tirosh A, Stigliano A, Trifan E, Faucz FR, Abboud D, Petrossians P, Tena JJ, Vitali E, Lania AG, Gómez-Skarmeta JL, Beckers A, Stratakis CA, Trivellin G. Franke M, et al. Am J Hum Genet. 2022 Apr 7;109(4):553-570. doi: 10.1016/j.ajhg.2022.02.002. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202564 Free PMC article.
X-LAG is associated with chromosome Xq26.3 duplications (the X-LAG locus typically includes VGLL1, CD40LG, ARHGEF6, RBMX, and GPR101) that lead to massive pituitary tumoral expression of GPR101, a novel regulator of GH secretion. ...Rewiring GPR101-enhancer i …
X-LAG is associated with chromosome Xq26.3 duplications (the X-LAG locus typically includes VGLL1, CD40LG, ARHGEF6, RBMX, and GPR101) …
Pituitary tumours: molecular and genetic aspects.
De Sousa SMC, Lenders NF, Lamb LS, Inder WJ, McCormack A. De Sousa SMC, et al. J Endocrinol. 2023 May 12;257(3):e220291. doi: 10.1530/JOE-22-0291. Print 2023 Jun 1. J Endocrinol. 2023. PMID: 36951812 Review.
This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, SDHB, SDHC, SDHD, SDHAF2) as well as emerging genetic associations. In addition, we discuss McCune-Albright syndrome which lies between the g …
This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, S …
GPR101 drives growth hormone hypersecretion and gigantism in mice via constitutive activation of G(s) and G(q/11).
Abboud D, Daly AF, Dupuis N, Bahri MA, Inoue A, Chevigné A, Ectors F, Plenevaux A, Pirotte B, Beckers A, Hanson J. Abboud D, et al. Nat Commun. 2020 Sep 21;11(1):4752. doi: 10.1038/s41467-020-18500-x. Nat Commun. 2020. PMID: 32958754 Free PMC article.
Here, we report that Gpr101 causes elevated GH/prolactin secretion in transgenic Ghrhr(Gpr101) mice but without hyperplasia/tumorigenesis. ...These signatures of GPR101 signaling, notably PKC activation, are also present in human pituitary tumors with high …
Here, we report that Gpr101 causes elevated GH/prolactin secretion in transgenic Ghrhr(Gpr101) mice but without hyperplasia/tu …
Genetic and Epigenetic Causes of Pituitary Adenomas.
Chang M, Yang C, Bao X, Wang R. Chang M, et al. Front Endocrinol (Lausanne). 2021 Jan 26;11:596554. doi: 10.3389/fendo.2020.596554. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33574795 Free PMC article. Review.
In contrast, guanine nucleotide-binding protein G(s) subunit alpha (GNAS) and G protein-coupled receptor 101 (GPR101) mutations can lead to excess growth hormone. ...
In contrast, guanine nucleotide-binding protein G(s) subunit alpha (GNAS) and G protein-coupled receptor 101 …
X-LAG: How did they grow so tall?
Beckers A, Rostomyan L, Potorac I, Beckers P, Daly AF. Beckers A, et al. Ann Endocrinol (Paris). 2017 Jun;78(2):131-136. doi: 10.1016/j.ando.2017.04.013. Epub 2017 Apr 27. Ann Endocrinol (Paris). 2017. PMID: 28457479 Free article. Review.
X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset occurring before the age of 5 in all cases described to date, which is signif …
X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gen …
Genetic Aspects of Pituitary Adenomas.
Marques P, Korbonits M. Marques P, et al. Endocrinol Metab Clin North Am. 2017 Jun;46(2):335-374. doi: 10.1016/j.ecl.2017.01.004. Epub 2017 Mar 18. Endocrinol Metab Clin North Am. 2017. PMID: 28476226 Review.
More rarely, germline mutations predisposing to pituitary adenomas -as part of a syndrome (eg, MEN1 or Carney complex), or isolated to the pituitary (AIP or GPR101) can be identified. These alterations influence the biological behavior, clinical presentations and therapeut …
More rarely, germline mutations predisposing to pituitary adenomas -as part of a syndrome (eg, MEN1 or Carney complex), or isolated to the p …
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.
Pepe S, Korbonits M, Iacovazzo D. Pepe S, et al. J Endocrinol. 2019 Feb 1;240(2):R21-R45. doi: 10.1530/JOE-18-0446. J Endocrinol. 2019. PMID: 30530903 Review.
The cAMP pathway is also affected by other conditions predisposing to pituitary tumours, including X-linked acrogigantism caused by duplications of the GPR101 gene, encoding an orphan G stimulatory protein-coupled receptor. Activating mosaic mutations in the GNAS gene, cod …
The cAMP pathway is also affected by other conditions predisposing to pituitary tumours, including X-linked acrogigantism caused by duplicat …
29 results