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Items: 1 to 20 of 220

1.
2.

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C.

Am J Hum Genet. 2003 Aug;73(2):404-11. Epub 2003 Jul 3.

4.

The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors.

Eng C.

Recent Prog Horm Res. 1999;54:441-52; discussion 453. Review.

PMID:
10548886
5.

PTEN: one gene, many syndromes.

Eng C.

Hum Mutat. 2003 Sep;22(3):183-98. Review.

PMID:
12938083
6.

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al.

Hum Mol Genet. 1998 Mar;7(3):507-15.

PMID:
9467011
7.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al.

Hum Mol Genet. 1999 Aug;8(8):1461-72.

PMID:
10400993
8.

Protean PTEN: form and function.

Waite KA, Eng C.

Am J Hum Genet. 2002 Apr;70(4):829-44. Epub 2002 Mar 1. Review.

9.

A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease.

Vega A, Torres J, Torres M, Cameselle-Teijeiro J, Macia M, Carracedo A, Pulido R.

J Invest Dermatol. 2003 Dec;121(6):1356-9.

10.

Silencing of the PTEN tumor-suppressor gene in anaplastic thyroid cancer.

Frisk T, Foukakis T, Dwight T, Lundberg J, Höög A, Wallin G, Eng C, Zedenius J, Larsson C.

Genes Chromosomes Cancer. 2002 Sep;35(1):74-80.

PMID:
12203792
11.

PTEN expression is reduced in a subset of sporadic thyroid carcinomas: evidence that PTEN-growth suppressing activity in thyroid cancer cells mediated by p27kip1.

Bruni P, Boccia A, Baldassarre G, Trapasso F, Santoro M, Chiappetta G, Fusco A, Viglietto G.

Oncogene. 2000 Jun 29;19(28):3146-55.

12.

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.

Agrawal S, Pilarski R, Eng C.

Hum Mol Genet. 2005 Aug 15;14(16):2459-68. Epub 2005 Jul 13.

PMID:
16014636
13.

Constipation, polyps, or cancer? Let PTEN predict your future.

Eng C.

Am J Med Genet A. 2003 Nov 1;122A(4):315-22. Review.

PMID:
14518069
14.

Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

Zhou XP, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, Eng C.

Am J Hum Genet. 2003 Nov;73(5):1191-8. Epub 2003 Oct 17.

15.

Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.

Marsh DJ, Dahia PL, Coulon V, Zheng Z, Dorion-Bonnet F, Call KM, Little R, Lin AY, Eeles RA, Goldstein AM, Hodgson SV, Richardson AL, Robinson BG, Weber HC, Longy M, Eng C.

Genes Chromosomes Cancer. 1998 Jan;21(1):61-9.

PMID:
9443042
16.

Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway.

Ramaswamy S, Nakamura N, Vazquez F, Batt DB, Perera S, Roberts TM, Sellers WR.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2110-5.

17.

Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death.

Weng LP, Gimm O, Kum JB, Smith WM, Zhou XP, Wynford-Thomas D, Leone G, Eng C.

Hum Mol Genet. 2001 Feb 1;10(3):251-8.

PMID:
11159944
18.

Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors.

Dahia PL, Marsh DJ, Zheng Z, Zedenius J, Komminoth P, Frisk T, Wallin G, Parsons R, Longy M, Larsson C, Eng C.

Cancer Res. 1997 Nov 1;57(21):4710-3.

19.

Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.

Hendriks YM, Verhallen JT, van der Smagt JJ, Kant SG, Hilhorst Y, Hoefsloot L, Hansson KB, van der Straaten PJ, Boutkan H, Breuning MH, Vasen HF, Bröcker-Vriends AH.

Fam Cancer. 2003;2(2):79-85.

PMID:
14574156
20.

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C.

Am J Med Genet. 1998 Dec 4;80(4):399-402.

PMID:
9856571

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