Search Results - "Mester, L"

Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes by Orloff, Mohammed S., He, Xin, Peterson, Charissa, Chen, Fusong, Chen, Jin-Lian, Mester, Jessica L., Eng, Charis

“…Cowden syndrome (CS) is a difficult-to-recognize multiple hamartoma syndrome with high risks of breast, thyroid, and other cancers. Germline mutations in PTEN…”
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation by Rivera‐Muñoz, Edgar A., Milko, Laura V., Harrison, Steven M., Azzariti, Danielle R., Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi L., Watson, Michael, Berg, Jonathan S.

“…Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge of clinical sequence variant interpretation. The demand for high‐quality…”
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Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer by Yehia, Lamis, Niazi, Farshad, Ni, Ying, Ngeow, Joanne, Sankunny, Madhav, Liu, Zhigang, Wei, Wei, Mester, Jessica L., Keri, Ruth A., Zhang, Bin, Eng, Charis

“…Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development…”
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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines by Preston, Christine G, Wright, Matt W, Madhavrao, Rao, Harrison, Steven M, Goldstein, Jennifer L, Luo, Xi, Wand, Hannah, Wulf, Bryan, Cheung, Gloria, Mandell, Mark E, Tong, Howard, Cheng, Shaung, Iacocca, Michael A, Pineda, Arturo Lopez, Popejoy, Alice B, Dalton, Karen, Zhen, Jimmy, Dwight, Selina S, Babb, Lawrence, DiStefano, Marina, O'Daniel, Julianne M, Lee, Kristy, Riggs, Erin R, Zastrow, Diane B, Mester, Jessica L, Ritter, Deborah I, Patel, Ronak Y, Subramanian, Sai Lakshmi, Milosavljevic, Aleksander, Berg, Jonathan S, Rehm, Heidi L, Plon, Sharon E, Cherry, J Michael, Bustamante, Carlos D, Costa, Helio A

“…Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation…”
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Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals by Hobert, Judith A., Mester, Jessica L., Moline, Jessica, Eng, Charis

“…Cowden syndrome results from germline mutations in the gene for phosphatase and tensin homologue deleted on chromosome 10 (PTEN) and from variants in succinate…”
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Effects of PACAP on Intracellular Signaling Pathways in Human Retinal Pigment Epithelial Cells Exposed to Oxidative Stress by Fabian, E., Reglodi, D., Mester, L., Szabo, A., Szabadfi, K., Tamas, A., Toth, G., Kovacs, K.

“…The integrity of retinal pigment epithelial cells is critical for photoreceptor survival and vision. Pituitary adenylate cyclase activating polypeptide (PACAP)…”
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TIP47 protects mitochondrial membrane integrity and inhibits oxidative-stress-induced cell death by Hocsak, E., Racz, B., Szabo, A., Mester, L., Rapolti, E., Pozsgai, E., Javor, Sz, Bellyei, Sz, Gallyas, F., Sumegi, B., Szigeti, A.

“…We found that overexpression of tail interacting protein of 47kDa (TIP47), but not its truncated form (t-TIP47) protected NIH3T3 cells from…”
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Lifetime Cancer Risks in Individuals with Germline PTEN Mutations by T, Min-Han, MESTER, Jessica L, NGEOW, Joanne, RYBICKI, Lisa A, ORLOFF, Mohammed S, ENG, Charis

“…Age-adjusted cancer incidence and age-related penetrance studies have helped guide cancer risk assessment and management. PTEN hamartoma tumor syndrome (PHTS)…”
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Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations by NGEOW, Joanne, STANUCH, Kim, MESTER, Jessica L, BARNHOLTZ-SLOAN, Jill S, ENG, Charis

“…Patients with Cowden syndrome (CS) with underlying germline PTEN mutations are at increased risk of breast, thyroid, endometrial, and renal cancers. To our…”
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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel by Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz‐Sloan, Jill, Sesock, Kaitlin, Hernandez, Felicia, Zhang, Liying, Milko, Laura, Plon, Sharon E., Hegde, Madhuri, Eng, Charis

“…The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular…”
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework by Brnich, Sarah E, Abou Tayoun, Ahmad N, Couch, Fergus J, Cutting, Garry R, Greenblatt, Marc S, Heinen, Christopher D, Kanavy, Dona M, Luo, Xi, McNulty, Shannon M, Starita, Lea M, Tavtigian, Sean V, Wright, Matt W, Harrison, Steven M, Biesecker, Leslie G, Berg, Jonathan S

“…The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established…”
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Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome by Mester, Jessica L, Zhou, Ming, Prescott, Nichole, Eng, Charis

“…Objective To formally study the prevalence and histologic classification of renal cell carcinoma (RCC) in a series of patients with PTEN hamartoma tumor…”
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Inside the black box: What explains differences in the efficiencies of financial institutions? by Berger, Allen N., Mester, Loretta J.

“…Over the past several years, substantial research effort has gone into measuring the efficiency of financial institutions. Many studies have found that…”
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Germline PTEN, SDHB‐D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An international, multicenter, prospective study by Mahdi, Haider, Mester, Jessica L., Nizialek, Emily A., Ngeow, Joanne, Michener, Chad, Eng, Charis

“…BACKGROUND Endometrial cancer has been recognized only recently as a major component of Cowden syndrome (CS). Germline alterations in phosphatase and tensin…”
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A study of bank efficiency taking into account risk-preferences by Mester, Loretta J.

“…I use the stochastic cost frontier approach to investigate efficiency of banks operating in the Third Federal Reserve District, accounting for the quality and…”
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Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly by Hobert, Judith A, Embacher, Rebecca, Mester, Jessica L, Frazier, 2nd, Thomas W, Eng, Charis

“…Unlike some other childhood neurodevelopmental disorders, no diagnostic biochemical marker has been identified in all individuals with an autism spectrum…”
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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines by Fortuno, Cristina, Michailidou, Kyriaki, Parsons, Michael, Dolinsky, Jill S, Pesaran, Tina, Yussuf, Amal, Mester, Jessica L, Hruska, Kathleen S, Hiraki, Susan, O’Connor, Robert, Chan, Raymond C, Kim, Serra, Tavtigian, Sean V, Goldgar, David, James, Paul A, Spurdle, Amanda B

“…Abstract Since first publication of the American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) variant classification…”
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A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma by Farley, Megan N, Schmidt, Laura S, Mester, Jessica L, Pena-Llopis, Samuel, Pavia-Jimenez, Andrea, Christie, Alana, Vocke, Cathy D, Ricketts, Christopher J, Peterson, James, Middelton, Lindsay, Kinch, Lisa, Grishin, Nick, Merino, Maria J, Metwalli, Adam R, Xing, Chao, Xie, Xian-Jin, Dahia, Patricia L M, Eng, Charis, Linehan, W Marston, Brugarolas, James

“…Renal cell carcinoma (RCC) clusters in some families. Familial RCC arises from mutations in several genes, including the von Hippel-Lindau (VHL) tumor…”
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Germline PARP4 mutations in patients with primary thyroid and breast cancers by Ikeda, Yuji, Kiyotani, Kazuma, Yew, Poh Yin, Kato, Taigo, Tamura, Kenji, Yap, Kai Lee, Nielsen, Sarah M, Mester, Jessica L, Eng, Charis, Nakamura, Yusuke, Grogan, Raymon H

“…Germline mutations in the PTEN gene, which cause Cowden syndrome, are known to be one of the genetic factors for primary thyroid and breast cancers; however,…”
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Are scale economies in banking elusive or illusive?: Evidence obtained by incorporating capital structure and risk-taking into models of bank production by Hughes, Joseph P., Mester, Loretta J., Moon, Choon-Geol

“…This paper explores how to incorporate banks' capital structure and risk-taking into models of production. In doing so, the paper bridges the gulf between (1)…”
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