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Pde8b haploinsufficiency in mice is associated with modest adrenal defects, impaired steroidogenesis, and male infertility, unaltered by concurrent PKA or Wnt activation.
Leal LF, Szarek E, Berthon A, Nesterova M, Faucz FR, London E, Mercier C, Abu-Asab M, Starost MF, Dye L, Bilinska B, Kotula-Balak M, Antonini SR, Stratakis CA. Leal LF, et al. Mol Cell Endocrinol. 2021 Feb 15;522:111117. doi: 10.1016/j.mce.2020.111117. Epub 2020 Dec 15. Mol Cell Endocrinol. 2021. PMID: 33338547
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
Matyakhina L, Freedman RJ, Bourdeau I, Wei MH, Stergiopoulos SG, Chidakel A, Walther M, Abu-Asab M, Tsokos M, Keil M, Toro J, Linehan WM, Stratakis CA. Matyakhina L, et al. J Clin Endocrinol Metab. 2005 Jun;90(6):3773-9. doi: 10.1210/jc.2004-2377. Epub 2005 Mar 1. J Clin Endocrinol Metab. 2005. PMID: 15741255
Pituitary pathology in Carney complex patients.
Stergiopoulos SG, Abu-Asab MS, Tsokos M, Stratakis CA. Stergiopoulos SG, et al. Pituitary. 2004;7(2):73-82. doi: 10.1007/s11102-005-5348-y. Pituitary. 2004. PMID: 15761655 Free PMC article.
Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.
Szarek E, Ball ER, Imperiale A, Tsokos M, Faucz FR, Giubellino A, Moussallieh FM, Namer IJ, Abu-Asab MS, Pacak K, Taïeb D, Carney JA, Stratakis CA. Szarek E, et al. Endocr Relat Cancer. 2015 Jun;22(3):345-52. doi: 10.1530/ERC-15-0069. Epub 2015 Mar 25. Endocr Relat Cancer. 2015. PMID: 25808178 Free PMC article.
135 results