Search Results - "Kum, J B"

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome by Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis

“…Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS)…”
Get full text

A comparison of pathologic outcomes of matched robotic and open partial nephrectomies by Mellon, Matthew J., Lucas, Steven M., Kum, Jennifer B. J., Cheng, Liang, Sundaram, Chandru

“…Purpose Open partial nephrectomy (OPN) and robotic partial nephrectomy (RPN) are widely utilized techniques for small renal masses. The lack of tactile…”
Get full text

PTEN Is Inversely Correlated With the Cell Survival Factor Akt/PKB and Is Inactivated Via Multiple Mechanisms in Haematological Malignancies by Dahia, Patricia L. M., Aguiar, Ricardo C. T., Alberta, John, Kum, Jennifer B., Caron, Stacey, Sill, Heinz, Marsh, Debbie J., Ritz, Jerome, Freedman, Arnold, Stiles, Charles, Eng, Charis

“…PTEN is a novel tumour suppressor gene that encodes a dual-specificity phosphatase with homology to adhesion molecules tensin and auxillin. It recently has…”
Get full text

Changes in endometrial PTEN expression throughout the human menstrual cycle by MUTTER, G. L, LIN, M.-C, FITZGERALD, J. T, KUM, J. B, ENG, C

“…Frequent mutation of the PTEN tumor suppressor gene in endometrial adenocarcinoma has led to the prediction that its product, a phosphatase that regulates the…”
Get full text

Germline PTEN mutations in Cowden syndrome-like families by Marsh, D J, Dahia, P L, Caron, S, Kum, J B, Frayling, I M, Tomlinson, I P, Hughes, K S, Eeles, R A, Hodgson, S V, Murday, V A, Houlston, R, Eng, C

“…Cowden syndrome (CS) or multiple hamartoma syndrome (MIM 158350) is an autosomal dominant disorder with an increased risk for breast and thyroid carcinoma. The…”
Get full text

Altered PTEN Expression as a Diagnostic Marker for the Earliest Endometrial Precancers by Mutter, George L., Lin, Ming-Chieh, Fitzgerald, Jeffrey T., Kum, Jennifer B., Baak, Jan P. A., Lees, Jacqueline A., Weng, Liang-Ping, Eng, Charis

“…Background: PTEN tumor suppressor gene mutations are the most frequent genetic lesions in endometrial adenocarcinomas of the endometrioid subtype. Testing the…”
Get full text

Loss-of-function mutations in PPAR gamma associated with human colon cancer by Sarraf, P, Mueller, E, Smith, W M, Wright, H M, Kum, J B, Aaltonen, L A, de la Chapelle, A, Spiegelman, B M, Eng, C

“…The gamma isoform of the peroxisome proliferator-activated receptor, PPAR gamma, regulates adipocyte differentiation and has recently been shown to be…”
Get full text

Differences in Allelic Distribution of Two Polymorphisms in the VHL-Associated Gene CUL2 in Pheochromocytoma Patients without Somatic CUL2 Mutations by Duerr, Eva-Maria, Gimm, Oliver, Donna S. Neuberg, Kum, Jennifer B, Clifford, Steven C, Toledo, Sergio P. A, Maher, Eamonn R, Dahia, Patricia L. M, Eng, Charis

“…ABSTRACTAlthough the two major familial forms of pheochromocytomas, multiple endocrine neoplasia type 2 and von-Hippel-Lindau disease (VHL), have been…”
Get full text

Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death by WENG, Liang-Ping, GIMM, Oliver, KUM, Jennifer B, SMITH, Wendy M, ZHOU, Xiao-Ping, WYNFORD-THOMAS, David, LEONE, Gustavo, ENG, Charis

“…The tumour suppressor gene PTEN/MMAC1/TEP1 has been implicated in a variety of human cancers and several inherited hamartoma tumour syndromes, including Cowden…”
Get full text

Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS) by Otto, Lisa R., Boriack, Richard L., Marsh, Debbie J., Kum, Jennifer B., Eng, Charis, Burlina, Alberto B., Bennett, Michael J.

“…In order to test the hypothesis that long‐chain L 3‐hydroxyacyl‐coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle…”
Get full text

PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies by Dahia, P L, Aguiar, R C, Alberta, J, Kum, J B, Caron, S, Sill, H, Marsh, D J, Ritz, J, Freedman, A, Stiles, C, Eng, C

“…PTEN is a novel tumour suppressor gene that encodes a dual-specificity phosphatase with homology to adhesion molecules tensin and auxillin. It recently has…”
Get full text