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Items: 1 to 20 of 79

1.

The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.

Bauer AJ, Stratakis CA.

J Med Genet. 2005 Nov;42(11):801-10. Epub 2005 Jun 15. Review.

2.
3.

Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses.

Stratakis CA.

Horm Res. 2000;54(5-6):334-43. Review.

PMID:
11595829
4.
5.

The differential diagnosis of familial lentiginosis syndromes.

Lodish MB, Stratakis CA.

Fam Cancer. 2011 Sep;10(3):481-90. doi: 10.1007/s10689-011-9446-x. Review.

6.

Hamartoma and lentiginosis syndromes: clinical and molecular aspects.

Marsh DJ, Stratakis CA.

Front Horm Res. 2001;28:167-213. Review.

PMID:
11443851
7.

Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex).

Stratakis CA, Matyakhina L, Courkoutsakis N, Patronas N, Voutetakis A, Stergiopoulos S, Bossis I, Carney JA.

Front Horm Res. 2004;32:253-64. Review.

PMID:
15281351
8.

[Clinical features and pathogenesis of Carney complex, a rare form of multiple endocrine neoplasia syndromes].

Igaz P, Rácz K, Szabolcs Z, Tulassay Z.

Orv Hetil. 2006 Mar 26;147(12):551-5. Review. Hungarian.

PMID:
16696379
9.

The mTOR pathway and its role in human genetic diseases.

Rosner M, Hanneder M, Siegel N, Valli A, Fuchs C, Hengstschläger M.

Mutat Res. 2008 Sep-Oct;659(3):284-92. doi: 10.1016/j.mrrev.2008.06.001. Epub 2008 Jun 11. Review.

PMID:
18598780
10.

Heterogeneity of skin manifestations in patients with Carney complex.

Mateus C, Palangié A, Franck N, Groussin L, Bertagna X, Avril MF, Bertherat J, Dupin N.

J Am Acad Dermatol. 2008 Nov;59(5):801-10. doi: 10.1016/j.jaad.2008.07.032. Epub 2008 Sep 19.

PMID:
18804312
11.

Inherited disposition to cardiac myxoma development.

Wilkes D, Charitakis K, Basson CT.

Nat Rev Cancer. 2006 Feb;6(2):157-65. Review.

PMID:
16491075
12.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.

Hum Mutat. 2008 Aug;29(8):992-1006. doi: 10.1002/humu.20748. Review.

PMID:
18470943
13.

Evidence that PKA activity is constitutively activated in human GH-secreting adenoma cells in a patient with Carney complex harbouring a PRKAR1A mutation.

Takano K, Yasufuku-Takano J, Morita K, Mori S, Takei M, Osamura RY, Teramoto A, Fujita T.

Clin Endocrinol (Oxf). 2009 May;70(5):769-75. doi: 10.1111/j.1365-2265.2008.03457.x. Epub 2008 Oct 21.

PMID:
19178533
14.

Depletion of type IA regulatory subunit (RIalpha) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency.

Mavrakis M, Lippincott-Schwartz J, Stratakis CA, Bossis I.

Hum Mol Genet. 2006 Oct 1;15(19):2962-71. Epub 2006 Sep 8.

15.

Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases.

Krab LC, Goorden SM, Elgersma Y.

Trends Genet. 2008 Oct;24(10):498-510. doi: 10.1016/j.tig.2008.07.005. Epub 2008 Sep 4. Review.

PMID:
18774199
16.

Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?

van Steensel MA, van Geel M, Badeloe S, Poblete-Gutiérrez P, Frank J.

Exp Dermatol. 2009 Feb;18(2):185-91. doi: 10.1111/j.1600-0625.2008.00808.x.

PMID:
19146581
17.

Mammalian target of rapamycin: master regulator of cell growth in the nervous system.

Sandsmark DK, Pelletier C, Weber JD, Gutmann DH.

Histol Histopathol. 2007 Aug;22(8):895-903. Review.

PMID:
17503347
18.

Molecular genetics of the cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis.

Boikos SA, Stratakis CA.

Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R80-7. Review.

19.

[Carney complex: a case report and literature review].

Almeida MQ, Villares MC, Mendonça BB.

Arq Bras Endocrinol Metabol. 2004 Aug;48(4):544-54. Epub 2005 Mar 7. Review. Portuguese.

20.

The mammalian target of rapamycin-signaling pathway in regulating metabolism and growth.

Yang X, Yang C, Farberman A, Rideout TC, de Lange CF, France J, Fan MZ.

J Anim Sci. 2008 Apr;86(14 Suppl):E36-50. Epub 2007 Nov 12. Review.

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