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Items: 1 to 20 of 109

1.

Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors.

Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos S, Robinson-White A, Lenherr S, Weinberg FD, Claflin E, Meoli E, Cho-Chung YS, Stratakis CA.

Cancer Res. 2004 Dec 15;64(24):8811-5.

2.

A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions.

Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos SG, Robinson-White A, Lenherr SM, Weinberg FD, Claflin ES, Batista D, Bourdeau I, Voutetakis A, Sandrini F, Meoli EM, Bauer AJ, Cho-Chung YS, Bornstein SR, Carney JA, Stratakis CA.

J Med Genet. 2004 Dec;41(12):923-31.

3.

Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling.

Chen W, Fan PC, Happle R.

Dermatology. 2004;209(4):321-4.

PMID:
15539896
4.

Linking pathways in colorectal cancer.

van den Brink GR.

Nat Genet. 2004 Oct;36(10):1038-9. No abstract available.

PMID:
15454939
5.

Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy.

Magnaldo T, Sarasin A.

Cells Tissues Organs. 2004;177(3):189-98. Review.

PMID:
15388993
6.

BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling.

He XC, Zhang J, Tong WG, Tawfik O, Ross J, Scoville DH, Tian Q, Zeng X, He X, Wiedemann LM, Mishina Y, Li L.

Nat Genet. 2004 Oct;36(10):1117-21. Epub 2004 Sep 19.

PMID:
15378062
7.

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT.

Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14222-7. Epub 2004 Sep 15.

8.

Eyelid myxoma in Carney complex without PRKAR1A allelic loss.

Tsilou ET, Chan CC, Sandrini F, Rubin BI, Shen DF, Carney JA, Kaiser-Kupfer M, Stratakis CA.

Am J Med Genet A. 2004 Nov 1;130A(4):395-7.

PMID:
15368482
9.

Minireview: PRKAR1A: normal and abnormal functions.

Bossis I, Stratakis CA.

Endocrinology. 2004 Dec;145(12):5452-8. Epub 2004 Aug 26. Review.

PMID:
15331577
10.

Minireview: GNAS: normal and abnormal functions.

Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M.

Endocrinology. 2004 Dec;145(12):5459-64. Epub 2004 Aug 26. Review.

PMID:
15331575
11.

Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases.

Hearle N, Lucassen A, Wang R, Lim W, Ross F, Wheeler R, Moore I, Shipley J, Houlston R.

Genes Chromosomes Cancer. 2004 Oct;41(2):163-9.

PMID:
15287029
12.

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

Araki T, Mohi MG, Ismat FA, Bronson RT, Williams IR, Kutok JL, Yang W, Pao LI, Gilliland DG, Epstein JA, Neel BG.

Nat Med. 2004 Aug;10(8):849-57. Epub 2004 Jul 25.

PMID:
15273746
13.

The LKB1 tumor suppressor negatively regulates mTOR signaling.

Shaw RJ, Bardeesy N, Manning BD, Lopez L, Kosmatka M, DePinho RA, Cantley LC.

Cancer Cell. 2004 Jul;6(1):91-9.

14.

Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma syndromes.

Brugarolas J, Kaelin WG Jr.

Cancer Cell. 2004 Jul;6(1):7-10. Review.

15.

The biology and clinical relevance of the PTEN tumor suppressor pathway.

Sansal I, Sellers WR.

J Clin Oncol. 2004 Jul 15;22(14):2954-63. Review.

PMID:
15254063
16.

The transcription network regulating melanocyte development and melanoma.

Vance KW, Goding CR.

Pigment Cell Res. 2004 Aug;17(4):318-25. Review.

PMID:
15250933
17.

Relative frequency and morphology of cancers in STK11 mutation carriers.

Lim W, Olschwang S, Keller JJ, Westerman AM, Menko FH, Boardman LA, Scott RJ, Trimbath J, Giardiello FM, Gruber SB, Gille JJ, Offerhaus GJ, de Rooij FW, Wilson JH, Spigelman AD, Phillips RK, Houlston RS.

Gastroenterology. 2004 Jun;126(7):1788-94.

PMID:
15188174
18.

LKB1 kinase: master and commander of metabolism and polarity.

Spicer J, Ashworth A.

Curr Biol. 2004 May 25;14(10):R383-5. Review.

19.

Protein kinase A and its role in human neoplasia: the Carney complex paradigm.

Bossis I, Voutetakis A, Bei T, Sandrini F, Griffin KJ, Stratakis CA.

Endocr Relat Cancer. 2004 Jun;11(2):265-80. Review.

20.

Genotype-phenotype correlations in Peutz-Jeghers syndrome.

Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, Nations L, Lynch PM, Fidder HH, Friedman E, Frazier ML.

J Med Genet. 2004 May;41(5):327-33.

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