Lobo, Glenn P., Waite, Kristin A., Planchon, Sarah M., Romigh, Todd, Nassif, Najah T., Eng, Charis
Germline and somatic PTEN mutations are found in Cowden syndrome (CS) and multiple sporadic malignancies, respectively. PTEN function appears to be modulated by subcellular compartmentalization, and...
Unregulated smooth-muscle myosin in human intestinal neoplasia (2008)
Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, ...
A recent study described a recessive ATPase activating germ-line mutation in smooth-muscle myosin (smmhc/myh11) underlying the zebrafish meltdown (mlt) phenotype. The mlt zebrafish develops...
Unregulated smooth-muscle myosin in human intestinal neoplasia. (2008)
Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, ...
A recent study described a recessive ATPase activating germ-line mutation in smooth-muscle myosin (smmhc/myh11) underlying the zebrafish meltdown (mlt) phenotype. The mlt zebrafish develops...
ATP modulates PTEN subcellular localization in multiple cancer cell lines. (2008)
Lobo, Glenn P., Waite, Kristin A., Planchon, Sarah M., Romigh, Todd, Houghton, Janet A., Eng, Charis
The tumour suppressor gene PTEN plays an important somatic role in both hereditary and sporadic breast carcinogenesis. While the role of PTEN's lipid phosphatase activity, as a negative regulator of...
Ni, Ying, Zbuk, Kevin M., Sadler, Tammy, Patocs, Attila, Lobo, Glenn, Edelman, Emily, ...
Individuals with PTEN mutations have Cowden syndrome (CS), associated with breast, thyroid, and endometrial neoplasias. Many more patients with features of CS, not meeting diagnostic criteria (termed...
Assi , Guillaume, LaFramboise, Thomas, Platzer, Petra, Bertherat, J R Me, Stratakis, Constantine A., Eng, Charis
SNP arrays provide reliable genotypes and can detect chromosomal aberrations at a high resolution. However, tissue heterogeneity is currently a major limitation for somatic tissue analysis. We have...
Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome. (2008)
Pezzolesi, Marcus G., Platzer, Petra, Waite, Kristin A., Eng, Charis
Germline mutations in the gene encoding phosphatase and tensin homolog deleted on chromosome ten (PTEN [MIM 601728]) are associated with a number of clinically distinct heritable cancer syndromes,...
ATP modulates PTEN subcellular localization in multiple cancer cell lines (2008)
Lobo, Glenn P., Waite, Kristin A., Planchon, Sarah M., Romigh, Todd, Houghton, Janet A., Eng, Charis
The tumour suppressor gene PTEN plays an important somatic role in both hereditary and sporadic breast carcinogenesis. While the role of PTEN's lipid phosphatase activity, as a negative regulator of...
Regulation of the PTEN promoter by statins and SREBP (2008)
Teresi, Rosemary E., Planchon, Sarah M., Waite, Kristin A., Eng, Charis
Germline mutations in the tumor-suppressor gene PTEN predispose to heritable breast cancer. The transcription factor peroxisome proliferator-activated receptor-gamma (PPARγ) has also been implicated...
PTEN regulates phospholipase D and phospholipase C (2007)
Alvarez-Breckenridge, Christopher A., Waite, Kristin A., Eng, Charis
PTEN is an ubiquitously expressed tumor suppressor which plays a prominent role in the pathogenesis of many types of sporadic solid tumors, including breast cancer, as well as hematologic...
Pezzolesi, Marcus G., Zbuk, Kevin M., Waite, Kristin A., Eng, Charis
Germline mutations in PTEN, encoding a phosphatase on 10q23, cause Cowden syndrome (CS) and Bannayan–Riley–Ruvalcaba syndrome (BRRS). Approximately, 10% of CS-related PTEN mutations occur in the...
Wang, Zailong, Yan, Pearlly, Potter, Dustin, Eng, Charis, Huang, Tim, Lin, Shili
Abstract Background In order to recapitulate tumor progression pathways using epigenetic data, we developed novel clustering and pathway reconstruction algorithms, collectively referred to as...
Teresi, Rosemary E., Zbuk, Kevin M., Pezzolesi, Marcus G., Waite, Kristin A., Eng, Charis
Germline mutations of PTEN (phosphatase and tensin homolog deleted on chromosome 10) are associated with the multihamartomatous disorder Cowden syndrome (CS). Moreover, patients with CS with germline...
Pezzolesi, Marcus G., Zbuk, Kevin M., Waite, Kristin A., Eng, Charis
Germline mutations in PTEN, encoding a phosphatase on 10q23, are cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). Approximately 10% of CS-related PTEN mutations occur in the...
A novel mutation in the tyrosine kinase domain of ERBB2in hepatocellular carcinoma (2006)
Bekaii-Saab, Tanios, Williams, Nita, Plass, Christoph, Calero, Miguel, Eng, Charis
Abstract Background Several studies showed that gain-of-function somatic mutations affecting the catalytic domain of EGFR in non-small cell lung carcinomas were associated with response to gefitinib...
Two-dimensional gel proteome reference map of blood monocytes (2006)
Jin, Ming, Diaz, Philip T, Bourgeois, Tran, Eng, Charis, Marsh, Clay B, Wu, Haifeng M
Abstract Background: Blood monocytes play a central role in regulating host inflammatory processes through chemotaxis, phagocytosis, and cytokine production. However, the molecular details underlying...
EPHB2germline variants in patients with colorectal cancer or hyperplastic polyposis (2006)
Kokko, Antti, Laiho, Päivi, Lehtonen, Rainer, Korja, Sanna, Carvajal-Carmona, Luis G, Järvinen, Heikki, ...
Abstract Background Ephrin receptor B2 ( EPHB2 ) has recently been proposed as a novel tumor suppressor gene in colorectal cancer (CRC). Inactivation of the gene has been shown to correlate with...
Mougenot, Jean-Francois, Houdayer, Claude, De Blois, Marie-Christine, ...
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these...
Friedman, Eitan, Kotsopoulos, Joanne, Lubinski, Jan, Lynch, Henry T, Ghadirian, Parviz, Neuhausen, Susan L, ...
Abstract Introduction BRCA1 and BRCA2 mutation carriers are at increased risk for developing both breast and ovarian cancer. It has been suggested that carriers of BRCA1/2 mutations may also be at...
EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis. (2006)
Kokko, Antti, Laiho, P Ivi, Lehtonen, Rainer, Korja, Sanna, Carvajal-Carmona, Luis G, J Rvinen, Heikki, ...
BACKGROUND: Ephrin receptor B2 (EPHB2) has recently been proposed as a novel tumor suppressor gene in colorectal cancer (CRC). Inactivation of the gene has been shown to correlate with progression of...
Sarquis, Marta S., Agrawal, Shipra, Shen, Lei, Pilarski, Robert, Zhou, Xiao-Ping, Eng, Charis
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) are autosomal dominant hamartoma syndromes. Germline PTEN mutations have been associated with 85% of CS cases and 65% of BRRS cases...
Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-Fran Ois, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine De, ...
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these...
Pezzolesi, Marcus G., Li, Yan, Zhou, Xiao-Ping, Pilarski, Robert, Shen, Lei, Eng, Charis
Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) encodes a tumor-suppressor phosphatase frequently mutated in both sporadic and heritable forms of human cancer. Germline mutations are...
Weber, Frank, Shen, Lei, Fukino, Koichi, Patocs, Attila, Mutter, George L., Caldes, Trinidad, ...
We have shown that the tumor microenvironment of sporadic breast cancer is diverse in genetic alterations and contributes to the cancer phenotype. The dynamic morphology of the mammary gland might be...
Two-dimensional gel proteome reference map of blood monocytes. (2006)
Jin, Ming, Diaz, Philip T, Bourgeois, Tran, Eng, Charis, Marsh, Clay B, Wu, Haifeng M
BACKGROUND: Blood monocytes play a central role in regulating host inflammatory processes through chemotaxis, phagocytosis, and cytokine production. However, the molecular details underlying these...
Foulkes, William D., Friedman, Eitan, Kotsopoulos, Joanne, Lubinski, Jan, Lynch, Henry T, Ghadirian, Parviz, ...
BRCA1 and BRCA2 mutation carriers are at increased risk for developing both breast and ovarian cancer. It has been suggested that carriers of BRCA1/2 mutations may also be at increased risk of having...
Chung, Ji-Hyun, Ostrowski, Michael C., Romigh, Todd, Minaguchi, Takeo, Waite, Kristin A., Eng, Charis
PTEN, a tumor suppressor phosphatase that dephosphorylates both protein and lipid substrates, is mutated in both heritable and sporadic breast cancer. Until recently, PTEN-mediated cell cycle arrest...
PTEN, a dual-phosphatase tumor suppressor, is inactivated in Cowden syndrome (CS), characterized by high risk of breast and thyroid cancer, and in variety of sporadic cancers. Despite the importance...
Chung, Ji-Hyun, Ostrowki, Michael C., Romigh, Todd, Minaguichi, Takeo, Waite, Kristin A., Eng, Charis
PTEN, a tumor suppressor phosphatase that dephosphorylates both protein and lipid substrates, is mutated in both heritable and sporadic breast cancer. Until recently, PTEN-mediated cell cycle arrest...
PTEN, a dual-phosphatase tumor suppressor, is inactivated in Cowden syndrome (CS), characterized by high risk of breast and thyroid cancer, and in variety of sporadic cancers. Despite the importance...
Phytoestrogen exposure elevates PTEN levels (2005)
Waite, Kristin A., Sinden, Michelle R., Eng, Charis
Epidemiological data suggest that consumption of phytoestrogens can be protective against the development of breast cancer. It may be logical to postulate that phytoestrogens may regulate proteins...
Phytoestrogen exposure elevates PTEN levels (2005)
Waite, Kristin A., Sinden, Michelle R., Eng, Charis
Epidemiological data suggest that consumption of phytoestrogens can be protective against the development of breast cancer. It may be logical to postulate that phytoestrogens may regulate proteins...
Agrawal, Shipra, Pilarski, Robert, Eng, Charis
PTEN, encoding a dual phosphatase tumor suppressor, is mutated in 85% and 65% of individuals with Cowden Syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS), respectively. Approximately 23...
Agrawal, Shipra, Pilarski, Robert, Eng, Charis
PTEN, encoding a dual phosphatase tumor suppressor, is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan–Riley–Ruvalcaba syndrome (BRRS), respectively....
A Novel Phosphatase Gene on 10q23, MINNP, in Hereditary and Sporadic Breast Cancer (2003)
PTEN is a tumor suppressor gene on 10q23 and encodes a dual specificity phosphatase. One of the major substrates for PTEN is phosphotidylinositol (3,4,5) triphosphate in the PI3 kinase pathway. When...
BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels (2003)
Waite, Kristin A., Eng, Charis
The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein and phosphatidylinositiol substrates and modulates cellular functions such as migration and...
Whiteman, David C., Zhou, Xiao-Ping, Cummings, Margaret C., Pavey, Sandra, Hayward, Nicholas K., Eng, Charis
Germline mutations of the PTEN tumor-suppressor gene, on 10q23, cause Cowden syndrome, an inherited hamartoma syndrome with a high risk of breast, thyroid and endometrial carcinomas and, some...
Whiteman, David C., Zhou, Xiao-Ping, Cummings, Margaret C., Pavey, Sandra, Hayward, Nicholas K., Eng, Charis
Germline mutations of the PTEN tumor-suppressor gene, on 10q23, cause Cowden syndrome, an inherited hamartoma syndrome with a high risk of breast, thyroid and endometrial carcinomas and, some...
The pressure rises: update on the genetics of phaeochromocytoma (2002)
Phaeochromocytomas are neoplasias of neural crest origin arising from the adrenal medulla. Extra-adrenal phaeochromocytomas occur and may be referred to as paragangliomas, although this term is also...
Zhou, Xiao-Ping, Kuismanen, Shannon, Nystrom-Lahti, Minna, Peltomaki, Païvi, Eng, Charis
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan–Riley–Ruvalcaba syndrome (BRR), two hamartoma-tumor syndromes with an increased risk of breast, thyroid and endometrial cancers....
Weng, Liang-Ping, Brown, Jessica L., Baker, Kim M., Ostrowski, Michael C., Eng, Charis
The tumor suppressor PTEN possesses lipid and protein phosphatase activities. It has been well established that the lipid phosphatase activity is essential for its tumor-suppressive function via the...
Weng, Liang-Ping, Brown, Jessica L., Eng, Charis
The tumour suppressor PTEN inhibits cell growth through multiple mechanisms. We have previously demonstrated that overexpression of PTEN in MCF-7 breast cancer cells causes G1 arrest followed by cell...
Weng, Liang-Ping, Gimm, Oliver, Kum, Jennifer B., Smith, Wendy M., Zhou, Xiao-Ping, Wynford-Thomas, David, ...
The tumour suppressor gene PTEN/MMAC1/TEP1 has been implicated in a variety of human cancers and several inherited hamartoma tumour syndromes, including Cowden syndrome, which has a high risk...
Kurose, Keisuke, Hoshaw-Woodard, Stacy, Adeyinka, Adewale, Lemeshow, Stanley, H. Watson, Peter, Eng, Charis
Although numerous studies have reported that high frequencies of loss of heterozygosity (LOH) at various chromosomal arms have been identified in breast cancer, differential LOH in the neoplastic...
Weng, Liang-Ping, Brown, Jessica L., Eng, Charis
The tumour suppressor gene PTEN/MMAC1/TEP1 encodes a dual-specificity phosphatase that recognizes phosphatidylinositol-3,4,5-triphosphate and protein substrates. We have shown previously that...
Weng, Liang-Ping, Smith, Wendy M., Brown, Jessica L., Eng, Charis
The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein substrates and phosphatidylinositol-3,4,5-triphosphate. PTEN seems to play multiple roles in tumour...
Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies (2001)
Smiraglia, Dominic J., Rush, Laura J., Frühwald, Michael C., Dai, Zunyan, Held, William A., Costello, Joseph F., ...
Cancer cell lines are widely used in many types of cancer research, including studies aimed at understanding DNA hypermethylation of gene promoters in cancer. Hypermethylation of promoters is capable...
Altered PTEN Expression as a Diagnostic Marker for the Earliest Endometrial Precancers (2000)
Mutter, George L., Lin, Ming-Chieh, Fitzgerald, Jeffrey T., Kum, Jennifer B., Baak, Jan P. A., Lees, Jacqueline A., ...
Background: PTEN tumor suppressor gene mutations are the most frequent genetic lesions in endometrial adenocarcinomas of the endometrioid subtype. Testing the hypothesis that altered PTEN function...
Zhou, Xiao-Ping, Marsh, Debbie J., Hampel, Heather, Mulliken, John B., Gimm, Oliver, Eng, Charis
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan–Riley–Ruvalcaba syndrome (BRR), two harmatoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a...
Genetics of PTEN in Cowden Syndrome and Sporadic Breast Cancer (1998)
Cowden syndrome (CS) is an autosomal dominant disorder characterized by multiple hamartomas and a high risk of breast, thyroid and other cancers. The susceptibility gene is PTEN. The edict of this...
A Novel Phosphatase Gene on 10q23, MINPP, in Hereditary and Sporadic Breast Cancer (1998)
PTEN is a tumor suppressor gene on 10q23 and encodes a dual specificity phosphatase. One of the major substrates for PTEN is phosphotidylinositol (3,4,5) triphosphate in the PI3 kinase pathway. When...
Genetics of PTEN in Cowden Syndrome and Sporadic Breast Cancer (1998)
Germline mutations in PTEN on 10q23.3 cause 80% of classic Cowden syndrome (CS) and SO of Bannayan-Riley-Ruvalcaba syndrome (CS) as well as up to 20% of Proteus syndrome and up to 50 of unclassified...
A Novel Phosphatase Gene on 10q23, MINPP, in Hereditary and Sporadic Breast Cancer (1998)
PTEN is a tumor suppressor gene on 10q23 and encodes a dual specificity phosphatase. One of the major substrates for PTEN is phosphotidylinositol (3,4,5) triphosphate in the P13 kinase pathway. When...
Genetic Alterations in Epithelial and Stromal Compartments of Prostate Adenocarcinomas (1998)
Genetic analyses on prostate cancer has been occurring for over a decade. However, such studies were uniformly performed on the entire tumor without regard to its components despite the fact that a...
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease (1995)
Attié, Tania, Pelet, Anna, Edery, Patrick, Eng, Charis, Mulligan, Lois M., Amiel, Jeanne, ...
Hirschsprung disease (HSCR) is a common congenital malformation (1 in 5 000 live births) due to the absence of autonomic ganglia in the terminal hindgut, and resulting in intestinal obstruction in...
A de novo mutation of the RET proto-oncogene in a patient with MEN 2A (1994)
Mulligan, Lois M., Eng, Charis, Healey, Catherine S., Ponder, Margaret A., Feldman, Gerald L., Li, Peizhi, ...
Haplotype analysis of MEN 2 mutations (1994)
Gardner, Emily, Mulligan, Lois M., Eng, Charis, Healey, Catherine S., Kwok, John B.J., Ponder, Margaret A., ...
Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome which affects thyroid C cells, and with variable frequency, the adrenal medulla, parathyroid and enteric...
Mortality From Second Tumors Among Long-Term Survivors of Retinoblastoma (1993)
Eng, Charis, Li, Frederick P., Abramson, David H., Ellsworth, Robert M., Wong, F. Lennie, Goldman, Marlene B., ...
Background: Children diagnosed with retinoblastoma, a rare cancer of the eye, tend to develop and die of second primary cancers in childhood and adolescence, but few investigations have followed...
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase
Myers, Michael P., Stolarov, Javor P., Eng, Charis, Li, Jing, Wang, Steven I., Wigler, Michael H., ...
Protein tyrosine phosphatases (PTPs) have long been thought to play a role in tumor suppression due to their ability to antagonize the growth promoting protein tyrosine kinases. Recently, a candidate...
Mueller, Elisabetta, Smith, Matthew, Sarraf, Pasha, Kroll, Todd, Aiyer, Anita, Kaufman, Donald S., ...
Peroxisome proliferator-activated receptor γ (PPARγ) is a nuclear hormone receptor that plays a key role in the differentiation of adipocytes. Activation of this receptor in liposarcomas and breast...
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles
Huang, Ying, Prasad, Manju, Lemon, William J., Hampel, Heather, Wright, Fred A., Kornacker, Karl, ...
Papillary thyroid carcinoma (PTC) is clinically heterogeneous. Apart from an association with ionizing radiation, the etiology and molecular biology of PTC is poorly understood. We used oligo-based...
APC-dependent suppression of colon carcinogenesis by PPARγ
Girnun, Geoffrey D., Smith, Wendy M., Drori, Stavit, Sarraf, Pasha, Mueller, Elisabetta, Eng, Charis, ...
Activation of PPARγ by synthetic ligands, such as thiazolidinediones, stimulates adipogenesis and improves insulin sensitivity. Although thiazolidinediones represent a major therapy for type 2...
Astuti, Dewi, Latif, Farida, Dallol, Ashraf, Dahia, Patricia L. M., Douglas, Fiona, George, Emad, ...
The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1...
Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, ...
Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were...
EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
Kokko, Antti, Laiho, Päivi, Lehtonen, Rainer, Korja, Sanna, Carvajal-Carmona, Luis G, Järvinen, Heikki, ...
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers
Friedman, Eitan, Kotsopoulos, Joanne, Lubinski, Jan, Lynch, Henry T, Ghadirian, Parviz, Neuhausen, Susan L, ...
Two-dimensional gel proteome reference map of blood monocytes
Jin, Ming, Diaz, Philip T, Bourgeois, Tran, Eng, Charis, Marsh, Clay B, Wu, Haifeng M
Weber, Frank, Shen, Lei, Fukino, Koichi, Patocs, Attila, Mutter, George L., Caldes, Trinidad, ...
We have shown that the tumor microenvironment of sporadic breast cancer is diverse in genetic alterations and contributes to the cancer phenotype. The dynamic morphology of the mammary gland might be...
Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine De, ...
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these...
Marsh, Deborah J, Theodosopoulos, George, Howell, Viive, Richardson, Anne-Louise, Benn, Diana E, Proos, Anné L, ...
Germline mutations in tumor suppressor genes, or less frequently oncogenes, have been identified in up to 19 familial cancer syndromes including Li-Fraumeni syndrome, familial paraganglioma, familial...
A novel mutation in the tyrosine kinase domain of ERBB2 in hepatocellular carcinoma
Bekaii-Saab, Tanios, Williams, Nita, Plass, Christoph, Calero, Miguel Villalona, Eng, Charis
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase
Myers, Michael P., Stolarov, Javor P., Eng, Charis, Li, Jing, Wang, Steven I., Wigler, Michael H., ...
Protein tyrosine phosphatases (PTPs) have long been thought to play a role in tumor suppression due to their ability to antagonize the growth promoting protein tyrosine kinases. Recently, a candidate...
Mueller, Elisabetta, Smith, Matthew, Sarraf, Pasha, Kroll, Todd, Aiyer, Anita, Kaufman, Donald S., ...
Peroxisome proliferator-activated receptor γ (PPARγ) is a nuclear hormone receptor that plays a key role in the differentiation of adipocytes. Activation of this receptor in liposarcomas and breast...
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles
Huang, Ying, Prasad, Manju, Lemon, William J., Hampel, Heather, Wright, Fred A., Kornacker, Karl, ...
Papillary thyroid carcinoma (PTC) is clinically heterogeneous. Apart from an association with ionizing radiation, the etiology and molecular biology of PTC is poorly understood. We used oligo-based...
APC-dependent suppression of colon carcinogenesis by PPARγ
Girnun, Geoffrey D., Smith, Wendy M., Drori, Stavit, Sarraf, Pasha, Mueller, Elisabetta, Eng, Charis, ...
Activation of PPARγ by synthetic ligands, such as thiazolidinediones, stimulates adipogenesis and improves insulin sensitivity. Although thiazolidinediones represent a major therapy for type 2...
Protean PTEN: Form and Function
Waite, Kristin A., Eng, Charis
Germline mutations distributed across the PTEN tumor-suppressor gene have been found to result in a wide spectrum of phenotypic features. Originally shown to be a major susceptibility gene for both...
Borrego, Salud, Wright, Fred A., Fernández, Raquel M., Williams, Nita, López-Alonso, Manuel, Davuluri, Ramana, ...
Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut. The seemingly unrelated multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant...
Zhou, Xiao-Ping, Waite, Kristin A., Pilarski, Robert, Hampel, Heather, Fernandez, Magali J., Bos, Cindy, ...
Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). The underlying genetic causes...
Zhou, Xiao-Ping, Marsh, Deborah J., Morrison, Carl D., Chaudhury, Abhik R., Maxwell, Marius, Reifenberger, Guido, ...
Lhermitte-Duclos disease (LDD), or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous overgrowth disorder. LDD can be familial or, more commonly, sporadic. It has been only...
Vanharanta, Sakari, Buchta, Mary, McWhinney, Sarah R., Virta, Sanna K., Peçzkowska, Mariola, Morrison, Carl D., ...
Hereditary paraganglioma syndrome has recently been shown to be caused by germline heterozygous mutations in three (SDHB, SDHC, and SDHD) of the four genes that encode mitochondrial succinate...
Astuti, Dewi, Latif, Farida, Dallol, Ashraf, Dahia, Patricia L. M., Douglas, Fiona, George, Emad, ...
The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1...
Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, ...
Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were...
Weber, Frank, Shen, Lei, Fukino, Koichi, Patocs, Attila, Mutter, George L., Caldes, Trinidad, ...
We have shown that the tumor microenvironment of sporadic breast cancer is diverse in genetic alterations and contributes to the cancer phenotype. The dynamic morphology of the mammary gland might be...
Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine De, ...
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these...
Marsh, Deborah J, Theodosopoulos, George, Howell, Viive, Richardson, Anne-Louise, Benn, Diana E, Proos, Anné L, ...
Germline mutations in tumor suppressor genes, or less frequently oncogenes, have been identified in up to 19 familial cancer syndromes including Li-Fraumeni syndrome, familial paraganglioma, familial...
EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis
Kokko, Antti, Laiho, Päivi, Lehtonen, Rainer, Korja, Sanna, Carvajal-Carmona, Luis G, Järvinen, Heikki, ...
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers
Friedman, Eitan, Kotsopoulos, Joanne, Lubinski, Jan, Lynch, Henry T, Ghadirian, Parviz, Neuhausen, Susan L, ...
Two-dimensional gel proteome reference map of blood monocytes
Jin, Ming, Diaz, Philip T, Bourgeois, Tran, Eng, Charis, Marsh, Clay B, Wu, Haifeng M
Sarquis, Marta S., Agrawal, Shipra, Shen, Lei, Pilarski, Robert, Zhou, Xiao-Ping, Eng, Charis
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) are autosomal dominant hamartoma syndromes. Germline PTEN mutations have been associated with 85% of CS cases and 65% of BRRS cases...
Sanlaville, Damien, Delnatte, Capucine, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, De Blois, Marie-Christine, ...
Lehtonen, Rainer, Kiuru, Maija, Vanharanta, Sakari, Sjöberg, Jari, Aaltonen, Leena-Maija, Aittomäki, Kristiina, ...
Germline mutations in the fumarate hydratase (FH) gene at 1q43 predispose to dominantly inherited cutaneous and uterine leiomyomas, uterine leiomyosarcoma, and papillary renal cell cancer (HLRCC...
Molecular Classification of Parathyroid Neoplasia by Gene Expression Profiling
Morrison, Carl, Farrar, William, Kneile, Jeff, Williams, Nita, Liu-Stratton, Yiwen, Bakaletz, Alan, ...
The current classification of sporadic parathyroid neoplasia, specifically the distinction of adenoma from multiple gland neoplasia (double adenoma and nonfamilial primary hyperplasia) is problematic...
Pezzolesi, Marcus G., Li, Yan, Zhou, Xiao-Ping, Pilarski, Robert, Shen, Lei, Eng, Charis
Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) encodes a tumor-suppressor phosphatase frequently mutated in both sporadic and heritable forms of human cancer. Germline mutations are...
Gimm, Oliver, Perren, Aurel, Weng, Liang-Ping, Marsh, Debbie J., Yeh, Jen Jen, Ziebold, Ulrike, ...
Germline mutations in PTEN (MMAC1/TEP1) are found in patients with Cowden syndrome, a familial cancer syndrome which is characterized by a high risk of breast and thyroid neoplasia. Although somatic...
Perren, Aurel, Weng, Liang-Ping, Boag, Alexander H., Ziebold, Ulricke, Thakore, Kosha, Dahia, Patricia L. M., ...
Germline mutations in PTEN, encoding a dual-specificity phosphatase on 10q23.3, cause Cowden syndrome (CS), which is characterized by a high risk of breast and thyroid cancers. Loss of heterozygosity...
Epigenetic PTEN Silencing in Malignant Melanomas without PTEN Mutation
Zhou, Xiao-Ping, Gimm, Oliver, Hampel, Heather, Niemann, Theodore, Walker, Michael J., Eng, Charis
A tumor suppressor gene at 10q 23.3, designated PTEN, encoding a dual specificity phosphatase with lipid and protein phosphatase activity, has been shown to play an important role in the pathogenesis...
Perren, Aurel, Komminoth, Paul, Saremaslani, Parvin, Matter, Claudia, Feurer, Seraina, Lees, Jacqueline A., ...
The pathogenesis of sporadic endocrine pancreatic tumors (EPTs) is still primarily unknown. Comparative genomic hybridization studies revealed loss of 10q in a significant number (nine of 31) of...
Zhou, Xiao-Ping, Loukola, Anu, Salovaara, Reijo, Nystrom-Lahti, Minna, Peltomäki, Päivi, De La Chapelle, Albert, ...
PTEN on 10q23.3 encodes a dual-specificity phosphatase that negatively regulates the phosphoinositol-3-kinase/Akt pathway and mediates cell-cycle arrest and apoptosis. Germline PTEN mutations cause...
Kurose, Keisuke, Zhou, Xiao-Ping, Araki, Tsutomu, Cannistra, Stephen A., Maher, Eamonn R., Eng, Charis
PTEN (MMAC1/TEP1), a tumor suppressor gene on chromosome subband 10q23.3, is variably mutated and/or deleted in a variety of human cancers. Germline mutations in PTEN, which encode a dual-specificity...
Zhou, Xiao-Ping, Hampel, Heather, Roggenbuck, Jennifer, Saba, Nabil, Prior, Thomas W., Eng, Charis
Germline mutations in the PTEN/MMAC1/TEP1 tumor suppressor gene cause Cowden syndrome (CS), a hereditary hamartoma-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers,...
ATP modulates PTEN subcellular localization in multiple cancer cell lines
Lobo, Glenn P., Waite, Kristin A., Planchon, Sarah M., Romigh, Todd, Houghton, Janet A., Eng, Charis
The tumour suppressor gene PTEN plays an important somatic role in both hereditary and sporadic breast carcinogenesis. While the role of PTEN's lipid phosphatase activity, as a negative regulator of...
Unregulated smooth-muscle myosin in human intestinal neoplasia
Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, ...
A recent study described a recessive ATPase activating germ-line mutation in smooth-muscle myosin (smmhc/myh11) underlying the zebrafish meltdown (mlt) phenotype. The mlt zebrafish develops...
Assié, Guillaume, LaFramboise, Thomas, Platzer, Petra, Bertherat, Jérôme, Stratakis, Constantine A., Eng, Charis
SNP arrays provide reliable genotypes and can detect chromosomal aberrations at a high resolution. However, tissue heterogeneity is currently a major limitation for somatic tissue analysis. We have...
Differential Expression of PTEN-Targeting MicroRNAs miR-19a and miR-21 in Cowden Syndrome
Pezzolesi, Marcus G., Platzer, Petra, Waite, Kristin A., Eng, Charis
Germline mutations in the gene encoding phosphatase and tensin homolog deleted on chromosome ten (PTEN [MIM 601728]) are associated with a number of clinically distinct heritable cancer syndromes,...
Ni, Ying, Zbuk, Kevin M., Sadler, Tammy, Patocs, Attila, Lobo, Glenn, Edelman, Emily, ...
Individuals with PTEN mutations have Cowden syndrome (CS), associated with breast, thyroid, and endometrial neoplasias. Many more patients with features of CS, not meeting diagnostic criteria (termed...
Zhao, Yongzhong, Marotta, Michael, Eichler, Evan E., Eng, Charis, Tanaka, Hisashi
Copy number variations (CNVs) represent a large source of genetic variation in humans and have been increasingly studied for disease association. A deletion polymorphism of the gene encoding the...
Lobo, Glenn P., Waite, Kristin A., Planchon, Sarah M., Romigh, Todd, Nassif, Najah T., Eng, Charis
Germline and somatic PTEN mutations are found in Cowden syndrome (CS) and multiple sporadic malignancies, respectively. PTEN function appears to be modulated by subcellular compartmentalization, and...