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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Among authors: london e. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA. Salpea P, et al. Among authors: london e. J Clin Endocrinol Metab. 2014 Jan;99(1):E183-8. doi: 10.1210/jc.2013-3159. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24170103 Free PMC article.
Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications.
London E, Rothenbuhler A, Lodish M, Gourgari E, Keil M, Lyssikatos C, de la Luz Sierra M, Patronas N, Nesterova M, Stratakis CA. London E, et al. J Clin Endocrinol Metab. 2014 Feb;99(2):E303-10. doi: 10.1210/jc.2013-1956. Epub 2013 Nov 18. J Clin Endocrinol Metab. 2014. PMID: 24248186 Free PMC article.
Differentially regulated protein kinase A (PKA) activity in adipose tissue and liver is associated with resistance to diet-induced obesity and glucose intolerance in mice that lack PKA regulatory subunit type IIα.
London E, Nesterova M, Sinaii N, Szarek E, Chanturiya T, Mastroyannis SA, Gavrilova O, Stratakis CA. London E, et al. Endocrinology. 2014 Sep;155(9):3397-408. doi: 10.1210/en.2014-1122. Epub 2014 Jun 10. Endocrinology. 2014. PMID: 24914943 Free PMC article.
Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis.
Saloustros E, Salpea P, Starost M, Liu S, Faucz FR, London E, Szarek E, Song WJ, Hussain M, Stratakis CA. Saloustros E, et al. Among authors: london e. Endocr Relat Cancer. 2017 Jan;24(1):31-40. doi: 10.1530/ERC-16-0443. Epub 2016 Nov 1. Endocr Relat Cancer. 2017. PMID: 27803029 Free PMC article.
Harvey Cushing Treated the First Known Patient With Carney Complex.
Tsay CJ, Stratakis CA, Faucz FR, London E, Stathopoulou C, Allgauer M, Quezado M, Dagradi T, Spencer DD, Lodish M. Tsay CJ, et al. Among authors: london e. J Endocr Soc. 2017 Sep 28;1(10):1312-1321. doi: 10.1210/js.2017-00283. eCollection 2017 Oct 1. J Endocr Soc. 2017. PMID: 29264456 Free PMC article.
784 results