PTEN hamartoma tumor syndromes

[1]  D. Marsh,et al.  Rapamycin treatment for a child with germline PTEN mutation , 2008, Nature Clinical Practice Oncology.

[2]  E. Heath,et al.  A phase I dose-escalation study of the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of a novel PI3K inhibitor, XL765, administered orally to patients (pts) with advanced solid tumors , 2008 .

[3]  Huan Yang,et al.  MicroRNA expression profiling in human ovarian cancer: miR-214 induces cell survival and cisplatin resistance by targeting PTEN. , 2008, Cancer research.

[4]  V. Schmithorst,et al.  Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. , 2008, The New England journal of medicine.

[5]  S. Lens,et al.  Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis , 2008, Gut.

[6]  S. Horvath,et al.  Antitumor Activity of Rapamycin in a Phase I Trial for Patients with Recurrent PTEN-Deficient Glioblastoma , 2008, PLoS medicine.

[7]  K. Shokat,et al.  A dual phosphoinositide-3-kinase alpha/mTOR inhibitor cooperates with blockade of epidermal growth factor receptor in PTEN-mutant glioma. , 2007, Cancer research.

[8]  Christopher Gillberg,et al.  Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly , 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[9]  I. Temple,et al.  Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers , 2007, Journal of Medical Genetics.

[10]  J. Mulliken,et al.  The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management , 2007, Journal of Medical Genetics.

[11]  R. Happle.  Type 2 segmental Cowden disease vs. Proteus syndrome , 2007, The British journal of dermatology.

[12]  F. Chibon,et al.  Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity , 2007, European Journal of Human Genetics.

[13]  L. Helman,et al.  Rapamycin induces feedback activation of Akt signaling through an IGF-1R-dependent mechanism , 2007, Oncogene.

[14]  R. Happle.  Linear Cowden nevus: a new distinct epidermal nevus. , 2007, European journal of dermatology : EJD.

[15]  Tom Misteli,et al.  Ubiquitination Regulates PTEN Nuclear Import and Tumor Suppression , 2007, Cell.

[16]  P. Pandolfi,et al.  NEDD4-1 Is a Proto-Oncogenic Ubiquitin Ligase for PTEN , 2007, Cell.

[17]  P. Pandolfi,et al.  Essential Role for Nuclear PTEN in Maintaining Chromosomal Integrity , 2007, Cell.

[18]  Alessandra Marini,et al.  Epigenetic silencing of the PTEN gene in melanoma. , 2006, Cancer research.

[19]  S. Agrawal,et al.  Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. , 2006, American journal of human genetics.

[20]  Norman Wolmark,et al.  Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial. , 2006, JAMA.

[21]  S. Agrawal,et al.  Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer. , 2006, Human molecular genetics.

[22]  Gordon B Mills,et al.  mTOR inhibition induces upstream receptor tyrosine kinase signaling and activates Akt. , 2006, Cancer research.

[23]  L. Ford,et al.  Tamoxifen for the prevention of breast cancer: current status of the National Surgical Adjuvant Breast and Bowel Project P-1 study. , 2005, Journal of the National Cancer Institute.

[24]  L. Aaltonen,et al.  Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. , 2005, JAMA.

[25]  F. Khuri,et al.  Activation of Akt and eIF4E survival pathways by rapamycin-mediated mammalian target of rapamycin inhibition. , 2005, Cancer research.

[26]  M. Cohen,et al.  Proteus syndrome: An update , 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

[27]  David W. Miller,et al.  Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[28]  P. Burger,et al.  Lhermitte-Duclos Disease: A Report of 31 Cases with Immunohistochemical Analysis of the PTEN/AKT/mTOR Pathway , 2005, Journal of neuropathology and experimental neurology.

[29]  W. Foulkes,et al.  Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome , 2004, American journal of medical genetics. Part A.

[30]  L. Biesecker,et al.  Proteus syndrome: Misdiagnosis with PTEN mutations , 2003, American journal of medical genetics. Part A.

[31]  G. Reifenberger,et al.  Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. , 2003, American journal of human genetics.

[32]  Charis Eng,et al.  PTEN: One Gene, Many Syndromes , 2003, Human mutation.

[33]  J. Ivanovich,et al.  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. , 2003, American journal of human genetics.

[34]  C. Eng,et al.  GI Polyposis and Glycogenic Acanthosis of the Esophagus Associated With PTEN Mutation Positive Cowden Syndrome in the Absence of Cutaneous Manifestations , 2003, American Journal of Gastroenterology.

[35]  D. Marsh,et al.  Germline mutation of the tumour suppressor PTEN in Proteus syndrome , 2002, Journal of medical genetics.

[36]  C. Bucana,et al.  Adenoviral-mediated expression of MMAC/PTEN inhibits proliferation and metastasis of human prostate cancer cells. , 2002, Clinical cancer research : an official journal of the American Association for Cancer Research.

[37]  L. Biesecker,et al.  PTEN mutations and Proteus syndrome , 2001, The Lancet.

[38]  W. Reardon,et al.  A novel germline mutation of the PTENgene in a patient with macrocephaly, ventricular dilatation, and features of VATER association , 2001, Journal of medical genetics.

[39]  S. Fosså,et al.  Incidence of metachronous testicular cancer in patients with extragonadal germ cell tumors. , 2001, Journal of the National Cancer Institute.

[40]  T. Sellers,et al.  Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. , 2001, Journal of the National Cancer Institute.

[41]  P. Frost,et al.  mTOR, a novel target in breast cancer: the effect of CCI-779, an mTOR inhibitor, in preclinical models of breast cancer. , 2001, Endocrine-related cancer.

[42]  J. Blenis,et al.  An inhibitor of mTOR reduces neoplasia and normalizes p70/S6 kinase activity in Pten+/− mice , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[43]  Hong Wu,et al.  Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[44]  Yusuke Nakamura,et al.  Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway , 2001, Oncogene.

[45]  R. Hennekam,et al.  Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes , 2001, The Lancet.

[46]  J. Klijn,et al.  Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. , 2001, The New England journal of medicine.

[47]  C Eng,et al.  PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model. , 2001, Human molecular genetics.

[48]  R. Parsons,et al.  PTEN: life as a tumor suppressor. , 2001, Experimental cell research.

[49]  L. Hudgins,et al.  The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome , 2001, Journal of Medical Genetics.

[50]  C. Eng.  Will the real Cowden syndrome please stand up: revised diagnostic criteria , 2000, Journal of medical genetics.

[51]  R. Kitsis,et al.  Akt promotes survival of cardiomyocytes in vitro and protects against ischemia-reperfusion injury in mouse heart. , 2000, Circulation.

[52]  I. Soubeyran,et al.  Thyroid pathologic findings in patients with Cowden disease. , 1999, Annals of diagnostic pathology.

[53]  C Eng,et al.  PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. , 1999, Human molecular genetics.

[54]  C. Cordon-Cardo,et al.  Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[55]  T. Mak,et al.  High cancer susceptibility and embryonic lethality associated with mutation of the PTEN tumor suppressor gene in mice , 1998, Current Biology.

[56]  José Luis de la Pompa,et al.  Negative Regulation of PKB/Akt-Dependent Cell Survival by the Tumor Suppressor PTEN , 1998, Cell.

[57]  Carlos Cordon-Cardo,et al.  Pten is essential for embryonic development and tumour suppression , 1998, Nature Genetics.

[58]  Kenneth M. Yamada,et al.  Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN. , 1998, Science.

[59]  C Eng,et al.  Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. , 1998, Human molecular genetics.

[60]  W. Cavenee,et al.  Growth suppression of glioma cells by PTEN requires a functional phosphatase catalytic domain. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[61]  Jing Li,et al.  Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome , 1997, Nature Genetics.

[62]  R. Ohi,et al.  Bannayan-Zonana syndrome associated with lipomas, hemangiomas, and lymphangiomas. , 1992, Journal of pediatric surgery.

[63]  D. Moretti-Ferreira,et al.  Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms? , 1989, American journal of medical genetics.

[64]  F. Arwert,et al.  The Cowden syndrome: a clinical and genetic study in 21 patients , 1986, Clinical genetics.

[65]  J. Zonana,et al.  Macrocephaly with hamartomas: Bannayan-Zonana syndrome. , 1984, American journal of medical genetics.

[66]  Bannayan Ga.  Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. , 1971 .

[67]  Charis Eng,et al.  Cancer phenomics: RET and PTEN as illustrative models , 2007, Nature Reviews Cancer.

[68]  K. Vogel,et al.  Susceptibility to breast cancer: hereditary syndromes and low penetrance genes. , 2006, Breast disease.

[69]  R. Komers,et al.  Emerging role of Akt kinase/protein kinase B signaling in pathophysiology of diabetes and its complications. , 2005, Physiological research.

[70]  R. Bookstein,et al.  Mutations to CCI-779 PTEN Enhanced Sensitivity of Multiple Myeloma Cells Containing Updated Version , 2002 .

[71]  H. Tsou,et al.  Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. , 1998, Human pathology.

[72]  D. Lacombe,et al.  Cowden disease. Report of a family and review. , 1996, Annales de genetique.

[73]  A. Elster,et al.  Recurrent Lhermitte-Duclos disease: report of two cases and association with Cowden's disease. , 1992, AJNR. American journal of neuroradiology.

[74]  G. Bannayan.  Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. , 1971, Archives of pathology.

[75]  K. Lloyd,et al.  Cowden's disease. A possible new symptom complex with multiple system involvement. , 1963 .