Search Results - "CHARIS ENG"

The Clinical Spectrum of PTEN Mutations by Yehia, Lamis, Keel, Emma, Eng, Charis

“…PTEN is a tumor suppressor gene that classically dampens the PI3K AKT mTOR growth-promoting signaling cascade. PTEN dysfunction causes dysregulation of this…”
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PTEN-opathies: from biological insights to evidence-based precision medicine by Yehia, Lamis, Ngeow, Joanne, Eng, Charis

“…The tumor suppressor phosphatase and tensin homolog (PTEN) classically counteracts the PI3K/AKT/mTOR signaling cascade. Germline pathogenic PTEN mutations…”
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Pheochromocytoma and Paraganglioma by Neumann, Hartmut P.H, Young, William F, Eng, Charis

“…Pheochromocytoma and paraganglioma are related tumors that differ mainly in location; pheochromocytomas are adrenal, and paragangliomas can be anywhere else…”
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65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine by Yehia, Lamis, Eng, Charis

“…An average of 10% of all cancers (range 1–40%) are caused by heritable mutations and over the years have become powerful models for precision medicine…”
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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors by Akhavanfard, Sara, Padmanabhan, Roshan, Yehia, Lamis, Cheng, Feixiong, Eng, Charis

“…Compared to adult carcinomas, there is a paucity of targeted treatments for solid tumors in children, adolescents, and young adults (C-AYA). The impact of…”
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Breast cancer risk and clinical implications for germline PTEN mutation carriers by Ngeow, Joanne, Sesock, Kaitlin, Eng, Charis

“…PTEN Hamartoma Tumor syndrome (PHTS) encompasses a clinical spectrum of heritable disorders including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome,…”
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New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis by Hou, Yuan, Zhao, Junfei, Martin, William, Kallianpur, Asha, Chung, Mina K, Jehi, Lara, Sharifi, Nima, Erzurum, Serpil, Eng, Charis, Cheng, Feixiong

“…Coronavirus Disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has now been confirmed worldwide. Yet,…”
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WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition by Lee, Yu-Ru, Yehia, Lamis, Kishikawa, Takahiro, Ni, Ying, Leach, Brandie, Zhang, Jinfang, Panch, Nivedita, Liu, Jing, Wei, Wenyi, Eng, Charis, Pandolfi, Pier Paolo

“…PTEN defects underlie disorders with several heritable neoplasms, including the Cowden syndrome, but many patients with these syndromes do not carry PTEN…”
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Target identification among known drugs by deep learning from heterogeneous networks by Zeng, Xiangxiang, Zhu, Siyi, Lu, Weiqiang, Liu, Zehui, Huang, Jin, Zhou, Yadi, Fang, Jiansong, Huang, Yin, Guo, Huimin, Li, Lang, Trapp, Bruce D, Nussinov, Ruth, Eng, Charis, Loscalzo, Joseph, Cheng, Feixiong

“…Without foreknowledge of the complete drug target information, development of promising and affordable approaches for effective treatment of human diseases is…”
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Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype by Sarn, Nicholas, Jaini, Ritika, Thacker, Stetson, Lee, Hyunpil, Dutta, Ranjan, Eng, Charis

“…Germline mutations in PTEN account for ~10% of cases of autism spectrum disorder (ASD) with coincident macrocephaly. To explore the importance of nuclear PTEN…”
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A genome-wide positioning systems network algorithm for in silico drug repurposing by Cheng, Feixiong, Lu, Weiqiang, Liu, Chuang, Fang, Jiansong, Hou, Yuan, Handy, Diane E., Wang, Ruisheng, Zhao, Yuzheng, Yang, Yi, Huang, Jin, Hill, David E., Vidal, Marc, Eng, Charis, Loscalzo, Joseph

“…Recent advances in DNA/RNA sequencing have made it possible to identify new targets rapidly and to repurpose approved drugs for treating heterogeneous diseases…”
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International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation by Metcalfe, Kelly, Eisen, Andrea, Senter, Leigha, Armel, Susan, Bordeleau, Louise, Meschino, Wendy S., Pal, Tuya, Lynch, Henry T., Tung, Nadine M., Kwong, Ava, Ainsworth, Peter, Karlan, Beth, Moller, Pal, Eng, Charis, Weitzel, Jeffrey N., Sun, Ping, Lubinski, Jan, Narod, Steven A.

“…Background Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and…”
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A Meta-Analysis of Gaze Differences to Social and Nonsocial Information Between Individuals With and Without Autism by Frazier, Thomas W., PhD, Strauss, Mark, PhD, Klingemier, Eric W., BA, Zetzer, Emily E., MA, Hardan, Antonio Y., MD, Eng, Charis, MD, PhD, Youngstrom, Eric A., PhD

“…Abstract Objective Numerous studies have identified abnormal gaze in individuals with autism. Yet only a limited number of findings have been replicated, the…”
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Functional and Taxonomic Dysbiosis of the Gut, Urine, and Semen Microbiomes in Male Infertility by Lundy, Scott D., Sangwan, Naseer, Parekh, Neel V., Selvam, Manesh Kumar Panner, Gupta, Sajal, McCaffrey, Peter, Bessoff, Kovi, Vala, Ayin, Agarwal, Ashok, Sabanegh, Edmund S., Vij, Sarah C., Eng, Charis

“…Little is known about the role of the genitourinary and gastrointestinal microbiota in the pathogenesis of male infertility. To compare the taxonomic and…”
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Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder by Frazier, Thomas W., Ph.D, Youngstrom, Eric A., Ph.D, Speer, Leslie, Ph.D, Embacher, Rebecca, B.S, Law, Paul, M.D., M.P.H, Constantino, John, M.D, Findling, Robert L., M.D, Hardan, Antonio Y., M.D, Eng, Charis, M.D., Ph.D

“…Objective The primary aim of the present study was to evaluate the validity of proposed DSM-5 criteria for autism spectrum disorder (ASD). Method We analyzed…”
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A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19 by Zhou, Yadi, Hou, Yuan, Shen, Jiayu, Mehra, Reena, Kallianpur, Asha, Culver, Daniel A, Gack, Michaela U, Farha, Samar, Zein, Joe, Comhair, Suzy, Fiocchi, Claudio, Stappenbeck, Thaddeus, Chan, Timothy, Eng, Charis, Jung, Jae U, Jehi, Lara, Erzurum, Serpil, Cheng, Feixiong

“…The global coronavirus disease 2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has led to unprecedented…”
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Human breast microbiome correlates with prognostic features and immunological signatures in breast cancer by Tzeng, Alice, Sangwan, Naseer, Jia, Margaret, Liu, Chin-Chih, Keslar, Karen S, Downs-Kelly, Erinn, Fairchild, Robert L, Al-Hilli, Zahraa, Grobmyer, Stephen R, Eng, Charis

“…Currently, over half of breast cancer cases are unrelated to known risk factors, highlighting the importance of discovering other cancer-promoting factors…”
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Highly penetrant hereditary cancer syndromes by Nagy, Rebecca, Sweet, Kevin, Eng, Charis

“…The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Approximately 5-10% of all cancers…”
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Diffuse Hamartomatous Change in the Gallbladder of a Patient With Deletion Involving PTEN and BMPR1A Genes by Chezar, Ksenia, Cass, Darrell L., Kurowski, Jacob A., Radhakrishnan, Kadakkal, Eng, Charis, Zhang, Xuefeng

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Cancer phenomics: RET and PTEN as illustrative models by Eng, Charis, Zbuk, Kevin M

“…Cancer phenomics, the systematic acquisition and objective documentation of host and/or somatic cancer phenotypic data at many levels, is a young field…”
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