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Items: 11

1.

Cushing's syndrome driver mutation disrupts protein kinase A allosteric network, altering both regulation and substrate specificity.

Walker C, Wang Y, Olivieri C, Karamafrooz A, Casby J, Bathon K, Calebiro D, Gao J, Bernlohr DA, Taylor SS, Veglia G.

Sci Adv. 2019 Aug 28;5(8):eaaw9298. doi: 10.1126/sciadv.aaw9298. eCollection 2019 Aug.

2.

Somatic PRKACA mutations: association with transition from pituitary-dependent to adrenal-dependent Cushing's syndrome.

Di Dalmazi G, Timmers HJLM, Arnaldi G, Küsters B, Scarpelli M, Bathon K, Calebiro D, Beuschlein F, Hermus A, Reincke M.

J Clin Endocrinol Metab. 2019 Jul 5. pii: jc.2018-02209. doi: 10.1210/jc.2018-02209. [Epub ahead of print]

PMID:
31276155
3.

Alterations in Protein Kinase A Substrate Specificity as a Potential Cause of Cushing Syndrome.

Bathon K, Weigand I, Vanselow JT, Ronchi CL, Sbiera S, Schlosser A, Fassnacht M, Calebiro D.

Endocrinology. 2019 Feb 1;160(2):447-459. doi: 10.1210/en.2018-00775.

PMID:
30615103
4.

Activating PRKACB somatic mutation in cortisol-producing adenomas.

Espiard S, Knape MJ, Bathon K, Assié G, Rizk-Rabin M, Faillot S, Luscap-Rondof W, Abid D, Guignat L, Calebiro D, Herberg FW, Stratakis CA, Bertherat J.

JCI Insight. 2018 Apr 19;3(8). pii: 98296. doi: 10.1172/jci.insight.98296. eCollection 2018 Apr 19.

5.

Differential expression of the protein kinase A subunits in normal adrenal glands and adrenocortical adenomas.

Weigand I, Ronchi CL, Rizk-Rabin M, Dalmazi GD, Wild V, Bathon K, Rubin B, Calebiro D, Beuschlein F, Bertherat J, Fassnacht M, Sbiera S.

Sci Rep. 2017 Mar 8;7(1):49. doi: 10.1038/s41598-017-00125-8.

6.

Mechanisms of Aberrant PKA Activation by Cα Subunit Mutations.

Calebiro D, Bathon K, Weigand I.

Horm Metab Res. 2017 Apr;49(4):307-314. doi: 10.1055/s-0042-112817. Epub 2016 Nov 3. Review.

PMID:
27813054
7.

Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.

Calebiro D, Grassi ES, Eszlinger M, Ronchi CL, Godbole A, Bathon K, Guizzardi F, de Filippis T, Krohn K, Jaeschke H, Schwarzmayr T, Bircan R, Gozu HI, Sancak S, Niedziela M, Strom TM, Fassnacht M, Persani L, Paschke R.

J Clin Invest. 2016 Sep 1;126(9):3383-8. doi: 10.1172/JCI84894. Epub 2016 Aug 8.

8.

PRKACA Somatic Mutations Are Rare Findings in Aldosterone-Producing Adenomas.

Rhayem Y, Perez-Rivas LG, Dietz A, Bathon K, Gebhard C, Riester A, Mauracher B, Gomez-Sanchez C, Eisenhofer G, Schwarzmayr T, Calebiro D, Strom TM, Reincke M, Beuschlein F.

J Clin Endocrinol Metab. 2016 Aug;101(8):3010-7. doi: 10.1210/jc.2016-1700. Epub 2016 Jun 7.

PMID:
27270477
9.

cAMP signaling in cortisol-producing adrenal adenoma.

Calebiro D, Di Dalmazi G, Bathon K, Ronchi CL, Beuschlein F.

Eur J Endocrinol. 2015 Oct;173(4):M99-106. doi: 10.1530/EJE-15-0353. Epub 2015 Jul 2. Review.

PMID:
26139209
10.

PKA catalytic subunit mutations in adrenocortical Cushing's adenoma impair association with the regulatory subunit.

Calebiro D, Hannawacker A, Lyga S, Bathon K, Zabel U, Ronchi C, Beuschlein F, Reincke M, Lorenz K, Allolio B, Kisker C, Fassnacht M, Lohse MJ.

Nat Commun. 2014 Dec 5;5:5680. doi: 10.1038/ncomms6680.

PMID:
25477193
11.

High resolution methylome analysis reveals widespread functional hypomethylation during adult human erythropoiesis.

Yu Y, Mo Y, Ebenezer D, Bhattacharyya S, Liu H, Sundaravel S, Giricz O, Wontakal S, Cartier J, Caces B, Artz A, Nischal S, Bhagat T, Bathon K, Maqbool S, Gligich O, Suzuki M, Steidl U, Godley L, Skoultchi A, Greally J, Wickrema A, Verma A.

J Biol Chem. 2013 Mar 29;288(13):8805-14. doi: 10.1074/jbc.M112.423756. Epub 2013 Jan 10.

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