Search

Your search keyword '"Russell R. Lonser"' showing total 17 results
Start Over Author "Russell R. Lonser" Publisher elsevier
17 results on '"Russell R. Lonser"'

1. Proteostasis Modulators Prolong Missense VHL Protein Activity and Halt Tumor Progression

Author

Chunzhang Yang, Kristin Huntoon, Alexander Ksendzovsky, Zhengping Zhuang, and Russell R. Lonser

Subjects
Biology (General), QH301-705.5
Abstract

Although missense mutations of the von Hippel-Lindau disease (VHL) gene are the most common germline mutation underlying this heritable cancer syndrome, the mechanism of tumorigenesis is unknown. We found a quantitative reduction of missense mutant VHL protein (pVHL) in tumors associated with physiologic mRNA expression. Although mutant pVHL is unstable and degraded contemporarily with translation, it retains its E3 ligase function, including hypoxia-inducible factor degradation. The premature pVHL degradation is due to misfolding and imbalance of chaperonin binding. Histone deacetylase inhibitors (HDACIs) can modulate this pathway by inhibiting the HDAC-Hsp90 chaperone axis, stabilizing pVHL, and restoring activity comparable to wild-type protein, both in vitro and in animal models. Furthermore, HDACI-mediated stabilization of missense pVHL significantly attenuates the growth of 786-O rodent tumor model. These findings provide direct biological insight into VHL-associated tumors and elucidate a treatment paradigm for VHL.

Published
2013
Full Text
View/download PDF

2. Progression of Epididymal Maldevelopment Into Hamartoma-like Neoplasia in VHL Disease

Author

Gautam U. Mehta, Sharon B. Shively, Heng Duong, Maxine G.B. Tran, Travis J. Moncrief, Jonathan H. Smith, Jie Li, Nancy A. Edwards, Russell R. Lonser, Zhengping Zhuang, Marsha J. Merrill, Mark Raffeld, Patrick H. Maxwell, Edward H. Oldfield, and Alexander O. Vortmeyer

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Inactivation of the von Hippel-Lindau (VHL) gene and activation of the hypoxia-inducible factor (HIF) in susceptible cells precedes formation of tumorlets and frank tumor in the epididymis of male VHL patients. We performed detailed histologic and molecular pathologic analysis of tumor-free epididymal tissues from VHL patients to obtain further insight into early epididymal tumorigenesis. Four epididymides from two VHL patients were serially sectioned to allow for three-dimensional visualization of morphologic changes. Areas of interest were genetically analyzed by tissue microdissection, immunohistochemistry for HIF and markers for mesonephric differentiation, and in situ hybridization for HIF downstream target vascular endothelial growth factor. Structural analysis of the epididymides revealed marked deviations from the regular anatomic structure resulting from impaired organogenesis. Selected efferent ductules were represented by disorganized mesonephric cells, and the maldeveloped mesonephric material was VHL-deficient by allelic deletion analysis. Furthermore, we observed maldeveloped mesonephric material near cystic structures, which were also VHL-deficient and were apparent derivatives of maldeveloped material. Finally, a subset of VHL-deficient cells was structurally integrated in regular efferent ductules; proliferation of intraductular VHL-deficient cells manifests itself as papillary growth into the ductular lumen. Furthermore, we clarify that that there is a pathogenetic continuum between microscopic tumorlets and formation of tumor. In multiple locations, three-dimensional reconstruction revealed papillary growth to extend deeply into ductular lumina, indicative of progression into early hamartoma-like neoplasia. We conclude epididymal tumorigenesis in VHL disease to occur in two distinct sequential steps: maldevelopment of VHL-deficient mesonephric cells, followed by neoplastic papillary proliferation.

Published
2008
Full Text
View/download PDF

3. Single-Isocenter Multitarget Stereotactic Radiosurgery Is Safe and Effective in the Treatment of Multiple Brain Metastases

Author

John M. McGregor, Wesley Zoller, Dukagjin Blakaj, John C. Grecula, Dominic DiCostanzo, Paul D. Brown, L Lu, Joshua D. Palmer, Arnab Chakravarti, Mark Addington, A.L.H. Arnett, Raju Raval, Jacquline Chu, James B. Elder, Russell R. Lonser, Nikhil Sebastian, and Erica Hlavin Bell

Subjects
lcsh:Medical physics. Medical radiology. Nuclear medicine, medicine.medical_specialty, Proportional hazards model, business.industry, medicine.medical_treatment, lcsh:R895-920, Hazard ratio, Isocenter, Logistic regression, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, lcsh:RC254-282, Confidence interval, Radiosurgery, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Oncology, Median follow-up, 030220 oncology & carcinogenesis, Overall survival, Medicine, Radiology, Nuclear Medicine and imaging, Radiology, business, Central Nervous System Tumor
Abstract

Purpose Multiple studies have reported favorable outcomes for stereotactic radiosurgery (SRS) in the treatment of limited brain metastases. An obstacle of SRS in the management of numerous metastases is the longer treatment time using traditional radiosurgery. Single-isocenter multitarget (SIMT) SRS is a novel technique that permits rapid therapy delivery to multiple metastases. There is a lack of clinical evidence regarding its efficacy and safety. We report the outcomes of patients treated with this technique. Methods and Materials We reviewed the records of patients with intact or resected brain metastases treated with SRS in 1 to 5 fractions using SIMT technique at our institution, with at least 1 available follow-up brain magnetic resonance imaging. Survival, disease control, and toxicity were evaluated using Cox regression, logistic regression, and Kaplan-Meier analysis. Results We identified 173 patients with 1014 brain metastases. Median follow up was 12.7 months. Median beam-on time was 4.1 minutes. The median dose to the brain was 219.4 cGy. Median overall survival and freedom from intracranial progression were 13.2 and 6.3 months, respectively. Overall survival did not differ between patients treated with greater than or less than 4 lesions (hazard ratio, 1.03; 95% confidence interval 0.66-1.61; P = .91). Actuarial 1- and 2-year local control were 99.0% and 95.1%, respectively. Rates of grade 2 and grade 3 or higher radionecrosis were 1.4% and 0.9%, respectively. Conclusions SIMT radiosurgery delivered in 1 to 5 fractions offers excellent local control and acceptable toxicity in the treatment of multiple intact and postoperative brain metastases. This technique should be evaluated prospectively.

Published
2019

4. Preface

Author

Russell R. Lonser, Malisa Sarntinoranont, and Krystof Bankiewicz

Published
2019

5. Drug- and Disease-Specific Paradigms for Drug Delivery to the Central Nervous System

Author

Kristin Huntoon, James B. Elder, and Russell R. Lonser

Subjects
Drug, Disease specific, business.industry, media_common.quotation_subject, medicine.medical_treatment, Central nervous system, Cancer, Disease, medicine.disease, Targeted therapy, medicine.anatomical_structure, Drug delivery, Medicine, business, Neuroscience, media_common
Abstract

Diseases of the central nervous system (CNS) encompass a large spectrum of pathological states that includes genetic and developmental disorders, neurodegenerative diseases, trauma, and cancer. One limitation of treating these diseases is the protective mechanisms developed by the CNS that limit its exposure to systemically delivered therapies. These mechanisms often affect the efficiency and specificity of CNS drug delivery. This chapter presents an overview of barriers to CNS drug delivery and identifies mechanisms to overcome the protective defenses of the CNS, allowing targeted therapy for specific disease entities.

Published
2019

6. Contributors

Author

Sanaalarab Al Enazy, Casey Anthony, Isabelle Aubert, Krystof Bankiewicz, Susan D. Bell, Vasily Belov, Nicholas M. Boulis, Henry Brem, Matthew Campbell, Hillary Caruso, Joshua Casaos, Tista Roy Chaudhuri, Aaron Dadas, Beverly L. Davidson, Timothy R. Deer, Long Di, Nancy D. Doolittle, James B. Elder, Rasha Elmghirbi, James R. Ewing, Massimo Fiandaca, Gerald Grant, Chris Greene, Kunal Gupta, Nathan Hardcastle, Amy B. Heimberger, Nguyen Hoang, Yuhao Huang, Kristin Huntoon, Sakibul Huq, Lee S. Hwang, Michael J. Iadarola, Damir Janigro, Cynthia Kassab, Brittany Parker Kerrigan, Philip S. Kim, Daria Krivosheya, Paul Larson, Daniel A. Lim, Nir Lipsman, Russell R. Lonser, Andrew J. Mannes, Nicola Marchi, Bryn A. Martin, John M. McGregor, Ying Meng, Karim Mithani, Paul Morrison, Tavarekere Nagaraja, Jerusha Naidoo, Edward A. Neuwelt, Shahid M. Nimjee, Claire O’Connor, Soroush Heidari Pahlavian, James Pan, Mikhail Papisov, Kelly M. Poth, Nirmala Ramanath, R. Mark Richardson, Kaitlin Sandor, Malisa Sarntinoranont, Nathan R. Selden, Riccardo Serra, Bryan P. Simpson, Peter S. Staats, Robert M. Straubinger, Muhibullah S. Tora, Betty Tyler, Laura Vecchio, Michael A. Vogelbaum, Jolewis Washington, Ethan A. Winkler, and Emily Youngers

Published
2019

7. Proteostasis Modulators Prolong Missense VHL Protein Activity and Halt Tumor Progression

Author

Alexander Ksendzovsky, Russell R. Lonser, Kristin Huntoon, Zhengping Zhuang, and Chunzhang Yang

Subjects
Mutation, Missense, medicine.disease_cause, urologic and male genital diseases, Article, General Biochemistry, Genetics and Molecular Biology, Cell Line, Mice, Germline mutation, Neoplasms, medicine, Animals, Humans, Missense mutation, RNA, Messenger, lcsh:QH301-705.5, Cell Proliferation, Mutation, biology, Protein Stability, Molecular biology, female genital diseases and pregnancy complications, Ubiquitin ligase, Gene Expression Regulation, Neoplastic, Histone Deacetylase Inhibitors, Proteostasis, lcsh:Biology (General), Von Hippel-Lindau Tumor Suppressor Protein, Tumor progression, Proteolysis, Disease Progression, biology.protein, Cancer research, Mutant Proteins, Histone deacetylase, Carcinogenesis, Half-Life
Abstract

While missense mutations of von Hippel-Lindau disease (VHL) gene are the most common germline mutation underlying this heritable cancer syndrome, the mechanism of tumorigenesis is unknown. We found a quantitative reduction of missense mutant VHL protein (pVHL) in VHL-associated tumors associated with physiologic mRNA expression. While mutant pVHL is unstable and degraded contemporarily with translation, it retains its E3 ligase function, including hypoxia inducible factor degradation. The premature pVHL degradation is due to misfolding and imbalance of chaperonin binding. Histone deacetylase inhibitors (HDACis) can modulate this pathway by inhibiting the HDAC6-Hsp90 chaperone axis, stabilizing pVHL and restoring activity comparable to wild type protein in vitro and in animal models (786-O tumor xenografts). HDACi mediated stabilization of missense pVHL significantly attenuates the growth of 786-O rodent tumor model. These findings provide direct biologic insight into VHL-associated tumors and elucidate a new treatment paradigm for VHL.

Published
2013

8. Von Hippel–Lindau disease

Author

Prashant Chittiboina and Russell R. Lonser

Subjects
Pathology, medicine.medical_specialty, von Hippel-Lindau Disease, endocrine system diseases, business.industry, Neuroendocrine tumors, urologic and male genital diseases, medicine.disease_cause, medicine.disease, Article, female genital diseases and pregnancy complications, Hemangioblastoma, Clear cell renal cell carcinoma, Hypoxia-inducible factors, medicine, Humans, Von Hippel–Lindau disease, Carcinogenesis, business, neoplasms, Endolymphatic sac tumor, Clear cell
Abstract

von Hippel-Lindau (VHL) disease is an inheritable condition with an incidence of 1 in 36000 live births. Individuals with VHL develop benign and malignant tumors including retinal and central nervous system hemangioblastomas, clear cell renal cell carcinomas (RCC), pheochromocytomas, pancreatic neuroendocrine tumors and endolymphatic sac tumors (ELSTs). VHL is caused by germline loss of function of the VHL gene on one allele at chromosome 3p25-26. A somatic "second hit" event leads to the loss of the other allele and tumor formation. Loss of VHL function in cells leads to increased expression and stabilization of hypoxia inducible factor (HIF). VHL protein/HIF pathway has been implicated in tumorigenesis for hemangioblastomas, RCC and other VHL tumors. Clinical examination, imaging, and genetic testing for VHL mutations confirm VHL disease. Management of VHL disease largely consists of surgical resection of symptomatic tumors (hemangioblastomas), tumors prone to metastasize (RCC larger than 3cm), or tumors causing hormonal symptoms (pheochromocytomas). Despite advances in early diagnosis and management of VHL disease, life expectancy for VHL patients remains low at 40-52 years. Secondary effects from VHL manifestations are mitigated by routine surveillance and early detection. In this chapter, we summarize the current state of knowledge in VHL disease.

Published
2015

9. Brain tumors associated with neurofibromatosis

Author

Russell R. Lonser, Katherine E. Warren, and Ashok R. Asthagiri

Subjects
Pathology, medicine.medical_specialty, business.industry, medicine, Neurofibromatosis, medicine.disease, business
Published
2012

10. Contributors

Author

Frank L. Acosta, P. David Adelson, John R. Adler, ., Kamran V. Aghayev, Manish K. Aghi, Basheal M. Agrawal, Manmeet S. Ahluwalia, Faiz Ahmad, Ellen Air, Pablo Ajler, Felipe C. Albuquerque, Arun P. Amar, Luca Amendola, Christopher Ames, Beejal Y. Amin, Sepideh Amin-Hanjani, Joshua M. Ammerman, William S. Anderson, Ronald I. Apfelbaum, Michael L.J. Apuzzo, Rocco Armonda, Paul M. Arnold, Harel Arzi, Ashok R. Asthagiri, Kurtis Auguste, Tariq E. Awad, Khaled M. Aziz, Tipu Aziz, Joachim M. Baehring, Mirza N. Baig, Roy Bakay, Perry A. Ball, Stefano Bandiera, Nicholas M. Barbaro, Frederick G. Barker, Daniel L. Barrow, Sachin Batra, Joshua Bederson, Kimon Bekelis, Carlo Bellabarba, Lorenzo Bello, Allan J. Belzberg, Bernard R. Bendok, Ludwig Benes, Edward C. Benzel, Helmut Bertalanffy, Chetan Bettegowda, Ravi Bhatia, Sanjay Bhatia, Allen T. Bishop, Keith L. Black, Lewis S. Blevins, George T. Blike, Ari Blitz, Göran C. Blomstedt, Benjamin Blondel, Kofi Boahene, Bernardo Boleaga, Markus Bookland, Stefano Boriani, Christopher M. Boxell, Henry Brem, Albino Bricolo, Jason A. Brodkey, Jacques Brotchi, Jeffrey N. Bruce, Michael Bruneau, Bradley R. Buchbinder, Kim J. Burchiel, Timothy G. Burke, Ali Bydon, Francesco Cacciola, Kevin Cahill, Paolo Cappabianca, Anthony J. Caputy, Francesco Cardinale, Ricardo L. Carrau, Benjamin S. Carson, Bob S. Carter, Giuseppe Casaceli, Laura Castana, Gabriel Castillo, Luigi M. Cavallo, C. Michael Cawley, Aabir Chakraborty, Edward F. Chang, Eric C. Chang, Steven D. Chang, Jens R. Chapman, E. Thomas Chappell, Neeraj Chaudhary, Douglas Chen, James Chen, Linda C. Chen, Boyle C. Cheng, Joshua J. Chern, John H. Chi, Wade W. Chien, E. Antonio Chiocca, Rohan Chitale, Bhupal Chitnavis, Lana D. Christiano, Ray M. Chu, Elisa F. Ciceri, Michelle J. Clarke, Alan Cohen, Annamaria Colao, Geoffrey P. Colby, Massimo Collice, Daniel Condit, Alexander L. Coon, Cassius Vinícius Corrêa Dos Reis, G. Rees Cosgrove, Massimo Cossu, William T. Couldwell, William T. Curry, Guilherme Dabus, Teodoro Forcht Dagi, Giuseppe D'Aliberti, Moise Danielpour, Mark J. Dannenbaum, Ronan M. Dardis, Hormuzdiyar H. Dasenbrock, Reza Dashti, Arthur L. Day, John Diaz Day, Vedran Deletis, Ramiro Del-Valle, Franco DeMonte, Francesco Dimeco, Robert Dodd, Francesco Doglietto, Lutz Dörner, Michael J. Dorsi, Gaby D. Doumit, James M. Drake, Doniel Drazin, Rose Du, Thomas B. Ducker, Hugues Duffau, Bradley S. Duhon, Paula Eboli, Mohamed Samy Elhammady, Pamela Ely, Nancy E. Epstein, Kadir Erkmen, Thomas Errico, Emad N. Eskandar, Clifford J. Eskey, Felice Esposito, Camilo E. Fadul, Gilbert J. Fanciullo, Kyle M. Fargen, Gidon Felsen, Dong Xia Feng, Richard G. Fessler, Aaron G. Filler, John C. Flickinger, John R. Floyd, Kevin T. Foley, Kostas N. Fountas, Howard Francis, James L. Frazier, Kai Frerichs, David M. Frim, Sebastien Froelich, Takanori Fukushima, Philippe Gailloud, Sergio Maria Gaini, Chirag D. Gandhi, Dheeraj Gandhi, Gale Gardner, Paul Gardner, Mark Garrett, Tomás Garzón-Muvdi, Alessandro Gasbarrini, Fred H. Geisler, Joseph J. Gemmete, Massimo Gerosa, Atul Goel, Ziya L. Gokaslan, L. Fernando Gonzalez, C. Rory Goodwin, Takeo Goto, Grahame C. Gould, M. Sean Grady, Andrew W. Grande, Ramesh Grandhi, Alexander L. Green, Jeffrey P. Greenfield, Bradley A. Gross, Rachel Grossman, Mari Groves, Gerardo Guinto, Richard Gullan, Gaurav Gupta, Nalin Gupta, Todd C. Hankinson, Ake Hansasuta, James S. Harrop, Griffith R. Harsh, Alia Hdeib, Stefan Heinze, John Heiss, Dieter Hellwig, Juha Hernesniemi, Roberto C. Heros, Todd Hillman, Jose Hinojosa, Girish K. Hiremath, Brian L. Hoh, L. Nelson Hopkins, Wesley Hsu, Yin C. Hu, Jason H. Huang, Judy Huang, Peter J. Hutchinson, Jonathan A. Hyam, Adriana G. Ioachimescu, Pascal M. Jabbour, Juan Jackson, George I. Jallo, Ivo P. Janecka, Mohsen Javadpour, Andrew Jea, Sunil Jeswani, David H. Jho, Diana H. Jho, Hae-Dong Jho, Bowen Jiang, Tae-Young Jung, M. Yashar S. Kalani, Hideyuki Kano, Silloo B. Kapadia, Michael G. Kaplitt, Christoph Kappus, Eftychia Z. Kapsalaki, Yuval Karmon, Amin B. Kassam, Sudhir Kathuria, Takeshi Kawase, Alexander A. Khalessi, Kathleen Khu, Daniel H. Kim, Matthias Kirsch ., Riku Kivisaari, Angelos G. Kolias, Douglas Kondziolka, Marcus C Korinth, Dietmar Krex, Mark D. Krieger, Kartik G. Krishnan, Ajit A. Krishnaney, Maureen Lacy, Santosh D. Lad, Jose Alberto Landeiro, Frederick F. Lang, Shih-Shan Lang, Françoise LaPierre, Paul S. Larson, Michael T. Lawton, Marco Lee, Martin Lehecka, Allan Levi, Elad I. Levy, Robert E. Lieberson, Michael Lim, Ning Lin, Göran Lind, Bengt Linderoth, Timothy Lindley, Antoine Listrat, Charles Y. Liu, James K. Liu, John C. Liu, Giorgio Lo Russo, Christopher M. Loftus, Russell R. Lonser, Daniel C. Lu, Yi Lu, L. Dade Lunsford, M. Mason Macenski, Jaroslaw Maciaczyk, Joseph R. Madsen, Subu N. Magge, Giulio Maira, Martijn J.A. Malessy, David G. Malone, Allen Maniker, Geoffrey T. Manley, Jotham Manwaring, Mitchell Martineau, Robert L. Martuza, Marlon S. Mathews, Nestoras Mathioudakis, Paul McCormick, Michael W. McDermott, Cameron G. McDougall, H. Maximilian Mehdorn, Vivek A. Mehta, Arnold Menezes, Patrick Mertens, Frederic B. Meyer, Matthew K. Mian, Rajiv Midha, Diego San Millán Ruíz, Jonathan Miller, Neil R. Miller, Zaman Mirzadeh, Ganpati Prasad Mishra, Symeon Missios, James B. Mitchell, Alim Mitha, J. Mocco, Abhay Moghekar, Jacques J. Morcos, Chad J. Morgan, John F. Morrison, Henry Moyle, Carrie R. Muh, Debraj Mukherjee, Arya Nabavi, Michael J. Nanaszko, Dipankar Nandi, Raj Narayan, Sabareesh K. Natarajan, Edgar Nathal, Vikram V. Nayar, Audumbar Shantaram Netalkar, C. Benjamin Newman, Trang Nguyen, Laura B. Ngwenya, Antonio Nicolato, Mika Niemelä, Guido Nikkhah, Anitha Nimmagadda, John K. Niparko, Ajay Niranjan, Richard B. North, José María Núñez, W. Jerry Oakes, Christopher S. Ogilvy, Kenji Ohata, Jeffrey G. Ojemann, Steven Ojemann, David O. Okonkwo, Edward H. Oldfield, Brent O'Neill, Nelson M. Oyesiku, Roberto Pallini, Aditya S. Pandey, Dachling Pang, Kyriakos Papadimitriou, José María Pascual, Aman Patel, Anoop P. Patel, Toral R. Patel, Vincenzo Paterno, Rana Patir, Alexandra R. Paul, Sanjay J. Pawar, Richard Penn, Erlick A.C. Pereira, Mick J. Perez-Cruet, Eric C. Peterson, Mark A. Pichelmann, Joseph M. Piepmeier, Marcus O. Pinsker, Lawrence H. Pitts, Rick J. Placide, Willem Pondaag, Kalmon Post, Matthew B. Potts, Lars Poulsgaard, Gustavo Pradilla, Charles J. Prestigiacomo, Daniel M. Prevedello, Ruth Prieto, Alfredo Quiñones-Hinojosa, Leonidas M. Quintana, Scott Y. Rahimi, Rudy J. Rahme, Rodrigo Ramos-Zúñiga, Nathan J. Ranalli, Shaan M. Raza, Pablo F. Recinos, Violette Renard Recinos, Shrikant Rege, Thomas Reithmeier, Katherine Relyea, Daniel Resnick, Daniele Rigamonti, Philippe Rigoard, Jaakko Rinne, Jon H. Robertson, Shimon Rochkind, Jack P. Rock, Rossana Romani, Guy Rosenthal, Robert H. Rosenwasser, Nathan C. Rowland, James T. Rutka, Samuel Ryu, Francesco Sala, Roberto Salvatori, Kari Sammalkorpi, Nader Sanai, Thomas Santarius, Amar Saxena, Gabriele Schackert, Uta Schick, Thomas A. Schildhauer, Alexandra Schmidek, Henry H. Schmidek, Meic H. Schmidt, Paul Schmitt, Johannes Schramm, Joseph Schwab, Theodore H. Schwartz, Patrick Schweder, Daniel M. Sciubba, R. Michael Scott, Raymond F. Sekula, Patrick Senatus, Amjad Shad, Ali Shaibani, Manish S. Sharma, Rewati Raman Sharma, Sameer A. Sheth, Alexander Y. Shin, Ali Shirzadi, Adnan H. Siddiqui, Roberto Leal Silveira, Nathan E. Simmons, Marc Sindou, Marco Sinisi, Timothy Siu, Edward Smith, Joseph R. Smith, Patricia Smith, Matthew Smyth, Domenico Solari, David Solomon, Adam M. Sonabend, Mark M. Souweidane, Edgardo Spagnuolo, Robert F. Spetzler, Robert J. Spinner, Andreas M. Stark, Philip A. Starr, Ladislau Steiner, Michael P. Steinmetz, Shirley I. Stiver, Prem Subramanian, Michael E. Sughrue, Ian Suk, Daniel Q. Sun, Ulrich Sure, Oszkar Szentirmai, Alexander Taghva, Giuseppe Talamonti, Rafael J. Tamargo, Richard J. Teff, John M. Tew, Nicholas Theodore, Philip V. Theodosopoulos, B. Gregory Thompson, Wuttipong Tirakotai, Stavropoula I. Tjoumakaris, James H. Tonsgard, David Trejo, Michael Trippel, R. Shane Tubbs, Luis M. Tumialan, Andreas Unterberg, Michael S. Vaphiades, T. Brooks Vaughan, Anand Veeravagu, Ana Luisa Velasco, Francisco Velasco, Gregory J. Velat, Angela Verlicchi, Frank D. Vrionis, Michel Wager, M. Christopher Wallace, Gary S. Wand, Benjamin C. Warf, Michael F. Waters, Joseph Watson, Martin H. Weiss, Nirit Weiss, William Welch, J. Kent Werner, Louis A. Whitworth, Christopher Winfree, Timothy F. Witham, Jean-Paul Wolinsky, Judith M. Wong, Shaun Xavier, Bakhtiar Yamini, Claudio Yampolsky, Michael J. Yaremchuk, Reza Yassari, Chun-Po Yen, John Yianni, Alexander K. Yu, Eric L. Zager, Bruno Zanotti, Marco Zenteno, Mehmet Zileli, and Alexandros D. Zouzias

Published
2012

11. Brainstem tumors

Author

Katherine E. Warren and Russell R. Lonser

Subjects
Pathology, medicine.medical_specialty, business.industry, Medicine, business, medicine.disease, Brain stem tumor
Published
2012

13. List of Contributors

Author

Ossama Al-Mefty, Ashok R. Asthagiri, Samer Ayoubi, Mitchel S. Berger, Rajesh K. Bindal, Robert J.S. Briggs, Jeffrey N. Bruce, Jan C. Buckner, Ronil V. Chandra, Susan M. Chang, Nikki Charles, Thomas C. Chen, Antonio Chiocca, Christopher P. Cifarelli, David A. Clump, Charles S. Cobbs, E. Sander Connolly, Shlomi Constantini, Douglas J. Cook, Helen V. Danesh-Meyer, R. Andrew Danks, Ryan DeMarchi, Katharine J. Drummond, Ian F. Dunn, James B. Elder, Richard G. Ellenbogen, Michael Ellis, Rudolf Fahlbusch, John C. Flickinger, Jeremy L. Fogelson, Robert L. Foote, Venelin M. Gerganov, Caterina Giannini, Graham G. Giles, Michael Gonzales, Ignacio Gonzalez-Gomez, Abhijit Guha, Barton L. Guthrie, Georges F. Haddad, Griffith R. Harsh, Cynthia Hawkins, Eric C. Holland, Lewis Hou, Kathryn Howe, Samar Issa, John A. Jane, Rashid M. Janjua, Derek R. Johnson, Bhadrakant Kavar, Andrew H. Kaye, James A.J. King, Douglas Kondziolka, Abhaya V. Kulkarni, John Laidlaw, Frederick F. Lang, Andrew B. Lassman, Edward R. Laws, Michael J. Link, Russell R. Lonser, M. Beatriz S. Lopes, L. Dade Lunsford, Nicholas F. Maartens, J. Gordon McComb, Scott A. Meyer, Eric J. Moore, Andrew P. Morokoff, Edward C. Nemergut, Ajay Niranjan, Terence J. O’Brien, Kerry D. Olsen, Robert G. Ojemann, Claudia Petritsch, Kalmon D. Post, Nader Pouratian, Ivan Radovanovic, Jesse Raiten, Jeffrey V. Rosenfeld, Mark A. Rosenthal, Jonathan Roth, James T. Rutka, Nader Sanai, Atom Sarkar, Raymond Sawaya, Bernd W. Scheithauer, David Schiff, R. Michael Scott, Mark E. Shaffrey, Adam M. Sonabend, Dima Suki, Kamal Thapar, Robert H. Thiele, Harry R. van Loveren, Scott R. VandenBerg, David G. Walker, Katherine E. Warren, and Tanya Yuen

Published
2012

15. Contributors

Author

Bizhan Aarabi, Rick Abbott, Saleem I. Abdulrauf, Frank L. Acosta, John R. Adler, Nzhde Agazaryan, Manish Aghi, Edward S. Ahn, Ali Alaraj, Gregory W. Albert, Leland Albright, Felipe C. Albuquerque, Tord D. Alden, Michael J. Alexander, Andrei V. Alexandrov, Ossama Al-Mefty, Ron L. Alterman, Lázaro Álvarez, Nduka M. Amankulor, Peter S. Amenta, Christopher P. Ames, Sepideh Amin-Hanjani, Mario Ammirati, Carryn Anderson, Richard C.E. Anderson, William S. Anderson, Peter D. Angevine, Hiba Arif, Jeffrey E. Arle, Rocco Armonda, Paul M. Arnold, Kaveh Asadi-Moghaddam, Ferhan A. Asghar, William W. Ashley, Sabri Aydin, Nafi Aygun, Joachim M. Baehring, Jacob H. Bagley, Diaa Bahgat, Julian E. Bailes, Jonathon R. Ball, Gordon H. Baltuch, Nicholas C. Bambakidis, Scott C. Baraban, Igor J. Barani, Nicholas M. Barbaro, Frederick G. Barker, Gene H. Barnett, Stanley L. Barnwell, Constance M. Barone, Daniel L. Barrow, Fabrice Bartolomei, Juan Bartolomei, Tracy T. Batchelor, H. Hunt Batjer, Andrew M. Bauer, Joel A. Bauman, Thomas K. Baumann, James E. Baumgartner, John Bayouth, Andrew Beaumont, Joshua B. Bederson, Rudolf Beisse, Randy S. Bell, Allan Belzberg, Alim Louis Benabid, Eduardo E. Benarroch, Abdelhamid Benazzouz, Bernard R. Bendok, Edward C. Benzel, Alejandro Berenstein, Mitchel S. Berger, Marvin Bergsneider, Helmut Bertalanffy, Tarun Bhalla, Dani S. Bidros, José Biller, Mark H. Bilsky, Devin K. Binder, William Bingaman, Rolfe Birch, Allen T. Bishop, Peter M. Black, Jeffrey P. Blount, Peter C. Blumbergs, Leif-Erik Bohman, Zackary E. Boomsaad, Frederick A. Boop, Pascal Bou-Haidar, Daniel R. Boué, Blaise F.D. Bourgeois, Robin M. Bowman, Oliver Bozinov, Helen M. Bramlett, Henry Brem, Steven Brem, Gavin W. Britz, Douglas L. Brockmeyer, David J. Brooks, Samuel R. Browd, Paul D. Brown, Robert D. Brown, Jeffrey N. Bruce, Janice E. Brunstrom-Hernandez, John Buatti, M. Ross Bullock, Kim J. Burchiel, Peter C. Burger, Marc R. Bussière, Mohamad Bydon, Richard W. Byrne, Maria Elisa Calcagnotto, Victoria A. Campbell, William Campbell, George M. Cannon, Louis P. Caragine, Benjamin S. Carson, Gregory D. Cascino, Ethan Cascio, Frédéric Castinetti, C. Michael Cawley, Justin S. Cetas, Stéphan Chabardès, Edward F. Chang, Eric C. Chang, Eric L. Chang, Steven D. Chang, Steven W. Chang, Susan M. Chang, Kevin Chao, Paul H. Chapman, Fady T. Charbel, Patrick Chauvel, Grace Chen, Boyle C. Cheng, Joseph S. Cheng, Joshua J. Chern, E. Antonio Chiocca, Ondrej Choutka, Shakeel A. Chowdhry, Cindy W. Christian, Kathy Chuang, Jan Claassen, Richard E. Clatterbuck, Elizabeth B. Claus, Daniel R. Cleary, Robert J. Coffey, Alan R. Cohen, Andrew J. Cole, E. Sander Connolly, Patrick J. Connolly, Anne G. Copay, Jeroen R. Coppens, James J. Corbett, Daniel M. Corcos, Domagoj Coric, Garth Rees Cosgrove, William T. Couldwell, Stirling Craig, Neil R. Crawford, Peter B. Crino, R. Webster Crowley, Bradford A. Curt, Marek Czosnyka, Zofia Czosnyka, Vladimir Y. Dadashev, Andrew T. Dailey, Deepa Danan, Shabbar F. Danish, Shervin R. Dashti, Carlos A. David, David J. David, Arthur L. Day, Antonio A.F. De Salles, Amir R. Dehdashti, Oscar H. Del Brutto, Johnny B. Delashaw, Bradley Delman, Mahlon R. DeLong, Franco DeMonte, Sanjay S. Dhall, Mark S. Dias, Curtis A. Dickman, W. Dalton Dietrich, Michael L. DiLuna, Francesco Di Meco, Peter Dirks, C. Edward Dixon, Jacob A. Donoghue, Ian G. Dorward, Amish H. Doshi, James Drake, Dan Drzymalski, Rose Du, Andrew Ducruet, Ann-Christine Duhaime, Aaron S. Dumont, Christopher D. Duntsch, Joshua R. Dusick, Suzan Dyve, James Eberwine, Paula Eboli, Robert D. Ecker, Richard J. Edwards, Marc E. Eichler, Doortje C. Engel, Nancy E. Epstein, Matthew G. Ewend, Hamad Farhat, Christopher J. Farrell, Michael G. Fehlings, Iman Feiz-Erfan, Neil A. Feldstein, Richard G. Fessler, Juan J. Figueroa, Aaron G. Filler, J. Max Findlay, Michael A. Finn, David J. Fiorella, James L. Fisher, Robert S. Fisher, Eugene S. Flamm, James D. Fleck, Kelly D. Flemming, John C. Flickinger, Laura Flores-Sarnat, Kenneth A. Follett, Kelly D. Foote, Daryl R. Fourney, Valerie Fraix, James L. Frazier, Itzhak Fried, Allan H. Friedman, William A. Friedman, Gerhard M. Friehs, Donald E. Fry, Gregory N. Fuller, Hector H. Garcia, Paul A. Gardner, Mark Garrett, Hugh Garton, Cormac G. Gavin, Alisa D. Gean, Thomas A. Gennarelli, Venelin Gerganov, Anand V. Germanwala, Massimo Gerosa, Elizabeth R. Gerstner, Peter C. Gerszten, Saadi Ghatan, Samer Ghostine, Steven Giannotta, Paul R. Gigante, Frank Gilliam, Holly Gilmer-Hill, Albert Gjedde, Roberta P. Glick, Ziya L. Gokaslan, Yakov Gologorsky, Kiarash Golshani, Nestor R. Gonzalez, James Tait Goodrich, Tessa Gordon, Alessandra A. Gorgulho, Liliana C. Goumnerova, M. Sean Grady, Jordan Grafman, Sylvie Grand, Gerald A. Grant, Gregory P. Graziano, Benjamin Greenberg, James Guest, Abhijit Guha, Murat Günel, Gaurav Gupta, Nalin Gupta, Jorge Guridi, Barton L. Guthrie, Georges F. Haddad, Michael M. Haglund, Regis W. Haid, Stephen J. Haines, Clement Hamani, Bronwyn E. Hamilton, D. Kojo Hamilton, Todd C. Hankinson, Leo T. Happel, Ihtsham Ul Haq, Raqeeb Haque, Robert E. Harbaugh, Ciara D. Harraher, Leo Harris, James S. Harrop, Wael Hassaneen, Cynthia Hawkins, Gregory W.J. Hawryluk, Neal G. Haynes, Robert F. Heary, Amy B. Heimberger, Mary M. Heinricher, Thomas M. Hemmen, Jaimie M. Henderson, Roberto C. Heros, Karl Herrup, Shawn L. Hervey-Jumper, Gregory G. Heuer, Lawrence J. Hirsch, Robert Hirschl, Brian L. Hoh, Daniel J. Hoh, Eric C. Holland, Paul E. Holtzheimer, L. Nelson Hopkins, Philip J. Horner, David A. Hovda, Matthew A. Howard, Patrick Hsieh, Yin C. Hu, Sherwin E. Hua, Jason H. Huang, Judy Huang, Samuel A. Hughes, Thierry A.G.M. Huisman, Matthew A. Hunt, R. John Hurlbert, Robert W. Hurst, Anita Huttner, Steven W. Hwang, Ioannis U. Isaias, Bermans J. Iskandar, Arun Jacob, Kurt A. Jaeckle, Jay Jagannathan, Regina I. Jakacki, George I. Jallo, John A. Jane, Ryan Janicki, Damir Janigro, N u Owase Jeelani, Kurt A. Jellinger, Arthur L. Jenkins, Sarah Jernigan, David F. Jimenez, Conrad E. Johanson, J. Patrick Johnson, Matthew D. Johnson, G. Alexander Jones, Rajni K. Jutla, Koijan Singh Kainth, Michael G. Kaiser, U. Kumar Kakarla, Iain H. Kalfas, Aleksandrs Uldis Kalnins, Hideyuki Kano, Yucel Kanpolat, Adam S. Kanter, Reza J. Karimi, Amin B. Kassam, Bruce A. Kaufman, Christian B. Kaufman, Hiroto Kawasaki, Brian C. Kelley, Christopher P. Kellner, Nicole C. Keong, John R.W. Kestle, Alexander A. Khalessi, Nadia Khan, Vini G. Khurana, Daniel H. Kim, Dong Gyu Kim, Dong H. Kim, Jong Hyun Kim, Louis J. Kim, Paul K. Kim, Thomas Aquinas Kim, Won Kim, James A.J. King, Ryan S. Kitagawa, Neil D. Kitchen, Paul Klimo, David G. Kline, Kazutaka Kobayashi, Patrick M. Kochanek, Douglas Kondziolka, Paul N. Kongkham, Tyler R. Koski, Thomas Kosztowski, Paul Krack, Joachim K. Krauss, Michael A. Kraut, Niklaus Krayenbühl, Thomas Kretschmer, Ajit Krishnaney, Charles Kuntz, Jeffrey V. Kuo, Brian K. Kwon, Nadia N. Issa Laack, Shivanand P. Lad, Alim M. Ladha, Amos K. Ladouceur, Arthur M. Lam, Frederick F. Lang, Giuseppe Lanzino, Sean D. Lavine, Edward R. Laws, Michael T. Lawton, Adrian W. Laxton, Tuong H. Le, Jean François LeBas, Brett D. Lebed, Richard L. Lebow, Amy Lee, Ian Lee, Seon-Kyu Lee, Emily Lehmann, James W. Leiphart, Gregory P. Lekovic, Frederick A. Lenz, Jeffrey R. Leonard, Peter D. LeRoux, Marc Lévêque, Allan D. Levi, Elad I. Levy, Linda M. Liau, Jason Liauw, Roger Lichtenbaum, Terry Lichtor, David D. Limbrick, Hester Lingsma, Michael J. Link, Mark E. Linskey, Brian Litt, Zachary N. Litvack, James K.C. Liu, Kenneth C. Liu, Jay S. Loeffler, Christopher M. Loftus, Russell R. Lonser, Angeliki Louvi, Andres M. Lozano, Daniel C. Lu, Rimas V. Lukas, L. Dade Lunsford, Neal Luther, Pedro Lylyk, Andrew I.R. Maas, R. Loch Macdonald, Andre Machado, Raul Macias, Robert J. Maciunas, Brian N. Maddux, Pierre Magistretti, Martijn J.A. Malessy, Neil R. Malhotra, Donald A. Malone, Adam N. Mamelak, Christopher E. Mandigo, Francesco T. Mangano, Allen H. Maniker, Geoffrey T. Manley, Daniel Marchac, Anthony Marmarou, Joseph C. Maroon, Lawrence F. Marshall, Neil A. Martin, Timothy J. Martin, Alexander M. Mason, Marlon S. Mathews, Helen S. Mayberg, James P. McAllister, J. Gordon McComb, Paul C. McCormick, Ian E. McCutcheon, Michael W. McDermott, Cameron G. McDougall, Matthew McGehee, Cameron C. McIntyre, Guy M. McKhann, M. Sean McKisic, David F. Meaney, Minesh P. Mehta, Vivek Mehta, William P. Melega, Arnold H. Menezes, Patrick Mertens, Fredric B. Meyer, Scott A. Meyer, Philip M. Meyers, Costas Michaelides, Karine Michaud, Rajiv Midha, Vincent J. Miele, Jonathan Miller, Matthew L. Miller, Neil R. Miller, John Mitrofanis, Kevin Y. Miyashiro, J. Mocco, Michael T. Modic, Parham Moftakhar, Avinash Mohan, Stephen J. Monteith, Jacques J. Morcos, Michael Morgan, David E. Morris, S. David Moss, J. Paul Muizelaar, Karim Mukhida, Praveen V. Mummaneni, Gregory J.A. Murad, Karin Muraszko, Antônio C.M. Mussi, Imad Najm, Peter Nakaji, Sandra Narayanan, David W. Newell, M. Kelly Nicholas, Yasunari Niimi, Shahid M. Nimjee, Ajay Niranjan, Richard B. North, Josef Novotny, Turo Nurmikko, Samuel E. Nutt, W. Jerry Oakes, José A. Obeso, Alfred T. Ogden, Lissa Ogieglo, Christopher S. Ogilvy, David O. Okonkwo, Michael S. Okun, Edward H. Oldfield, Alessandro Olivi, Stephen E. Olvey, David Omahen, Brent O'Neill, Rod J. Oskouian, Robert Owen, Koray Özduman, Ali Kemal Ozturk, M. Necmettin Pamir, Dachling Pang, Jamie Pardini, Andrew D. Parent, T.S. Park, Michael D. Partington, Aman B. Patel, Parag G. Patil, Nicola Pavese, Richard D. Penn, Noel I. Perin, John A. Persing, Erika A. Petersen, Anthony L. Petraglia, Brigitte Piallat, Joseph H. Piatt, John D. Pickard, Joseph M. Piepmeier, Webster H. Pilcher, José Pineda, Joseph D. Pinter, Mary L. Pisculli, Thomas Pittman, Ian F. Pollack, Pierre Pollak, Bruce E. Pollock, Francisco A. Ponce, Alyx B. Porter, Randall W. Porter, Kalmon D. Post, Alexander K. Powers, Mark R. Proctor, Robert W. Prost, Jeffrey Pugh, Alfredo Quiñones-Hinojosa, Corey Raffel, Sharad Rajpal, Leonardo Rangel-Castilla, Ganesh Rao, Ahmed Raslan, Peter A. Rasmussen, Dibyendu K. Ray, Shaan M. Raza, Davis L. Reames, Chandan G. Reddy, Andy J. Redmond, Jean Régis, Peter L. Reilly, Dominique Renier, Daniel K. Resnick, Renee Reynolds, Ali R. Rezai, Laurence D. Rhines, Albert L. Rhoton, Teresa Ribalta, R. Mark Richardson, Daniele Rigamonti, Gregory J. Riggins, Jay Riva-Cambrin, Paolo Rizzo, David W. Roberts, Claudia Robertson, Lawrence Robinson, Shenandoah Robinson, Pierre-Hugues Roche, Mark A. Rockoff, Gerald E. Rodts, Pantaleo Romanelli, Mark L. Rosenblum, Joshua M. Rosenow, Michael K. Rosner, Eric S. Rovner, Christina L. Runge-Samuelson, Stephen M. Russell, James T. Rutka, Oren Sagher, Eric G. St. Clair, Madjid Samii, Prakash Sampath, Srinath Samudrala, Nader Sanai, Robert A. Sanford, Paul Santiago, Teresa Santiago-Sim, Harvey B. Sarnat, Raymond Sawaya, W. Michael Scheld, Wouter I. Shirzadi, Nicholas D. Schiff, Clemens M. Schirmer, David Schlesinger, Meic H. Schmidt, Joost W. Schouten, Johannes Schramm, Thomas C. Schuler, James M. Schuster, Theodore H. Schwartz, Judith A. Schwartzbaum, Patrick M. Schweder, R. Michael Scott, Eric Seigneuret, Nathan R. Selden, Warren R. Selman, Christopher I. Shaffrey, Manish N. Shah, Kiarash Shahlaie, William R. Shapiro, Deepak Sharma, Jason P. Sheehan, Jonas M. Sheehan, Arun K. Sherma, James M. Shiflett, Helen A. Shih, Jay L. Shils, Alexander Y. Shin, Ali Shirzadi, Adnan H. Siddiqui, Marc Sindou, Konstantin V. Slavin, Edward R. Smith, Justin S. Smith, Yoland Smith, Matthew D. Smyth, Penny K. Sneed, Brian J. Snyder, Kenneth V. Snyder, Robert A. Solomon, Volker K.H. Sonntag, Leif Sørensen, Sulpicio G. Soriano, Mark M. Souweidane, Julian Spears, David Spencer, Dennis D. Spencer, Robert F. Spetzler, Robert J. Spinner, Brett R. Stacey, William C. Stacey, Robert M. Starke, Philip A. Starr, Gary K. Steinberg, Frederick L. Stephens, Barney J. Stern, Charles B. Stevenson, Eric Stiner, Scellig Stone, Nicole L. Stroud, Robert Morgan Stuart, Brian R. Subach, Patrick A. Sugrue, Dima Suki, Wale A.R. Sulaiman, Daniel L. Surdell, William W. Sutherling, Leslie N. Sutton, Omar N. Syed, Michele Tagliati, Yasushi Takagi, Rafael J. Tamargo, Caroline C. Tan, Nitin Tandon, Marcos Tatagiba, Michael D. Taylor, Steven A. Telian, Charles Teo, Jeffrey M. Tessier, Khoi D. Than, Kamal Thapar, Nicholas Theodore, B. Gregory Thompson, Robert Tiel, Tarik Tihan, Ann Tilton, Shelly D. Timmons, Maria Toledo, Tadanori Tomita, Nestor D. Tomycz, Napoleon Torres, Charles P. Toussaint, Bruce D. Trapp, Vincent C. Traynelis, R. Shane Tubbs, Luis M. Tumialán, Allan R. Tunkel, Atsushi Umemura, Alexander R. Vaccaro, Koen van Besien, Jerrold L. Vitek, Kenneth P. Vives, Timothy W. Vogel, Michael A. Vogelbaum, Dennis G. Vollmer, Gretchen K. Von Allmen, Kajetan L. von Eckardstein, P. Ashley Wackym, Mark Wainwright, Ben Waldau, Marion L. Walker, M. Christopher Wallace, Brian Walsh, Huan Wang, Michael Y. Wang, Vincent Y. Wang, Ronald E. Warnick, Sharon Webb, Ralf Weigel, Robert J. Weil, Jon D. Weingart, Bryce Weir, Martin Weiss, Nirit Weiss, William C. Welch, John C. Wellons, Hung Tzu Wen, Christian Wess, G. Alexander West, Nicholas M. Wetjen, Robert G. Whitmore, Louis A. Whitworth, Thomas Wichmann, Joseph L. Wiemels, Eelco F.M. Wijdicks, Adam C. Wilberger, Jack Wilberger, David M. Wildrick, Jason Wilson, Christopher J. Winfree, H. Richard Winn, Christopher Wolfla, Eric T. Wong, Peter J. Wormald, Margaret Wrensch, Neill M. Wright, Zachary Wright, David Yam, Shinya Yamada, Yoshiya Yamada, Isaac Yang, Victor X.D. Yang, Tom Yao, Chun-Po Yen, H. Kwang Yeoh, Yasuhiro Yonekawa, Alice Yoo, David M. Yousem, Eric C. Yuen, Joseph M. Zabramski, Andrew C. Zacest, J. Christopher Zacko, Gabriel Zada, Ross Zafonte, Eric L. Zager, Hasan A. Zaidi, Hekmat Zarzour, Vasilios A. Zerris, Justin A. Zivin, John G. Zovickian, Alexander Y. Zubkov, and Marike Zwienenberg-Lee

Published
2011

16. Spinal Cord Hemangioblastomas

Author

Edward H. Oldfield and Russell R. Lonser

Subjects
medicine.anatomical_structure, business.industry, medicine, Anatomy, Spinal cord, business
Published
2005

17. Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.

Author

Yang C, Sun MG, Matro J, Huynh TT, Rahimpour S, Prchal JT, Lechan R, Lonser R, Pacak K, and Zhuang Z

Subjects
Abdominal Neoplasms genetics, Abdominal Neoplasms metabolism, Amino Acid Sequence, Base Sequence, Basic Helix-Loop-Helix Transcription Factors chemistry, Basic Helix-Loop-Helix Transcription Factors metabolism, Child, Child, Preschool, Female, HeLa Cells, Humans, Models, Molecular, Molecular Sequence Data, Pancreatic Neoplasms metabolism, Paraganglioma metabolism, Phylogeny, Polycythemia metabolism, Somatostatinoma metabolism, Basic Helix-Loop-Helix Transcription Factors genetics, Mutation physiology, Oxygen metabolism, Pancreatic Neoplasms genetics, Paraganglioma genetics, Polycythemia genetics, Somatostatinoma genetics
Abstract

Hypoxia-inducible factors (HIFs) control the cellular response to hypoxia and, when dysregulated, contribute to tumorigenesis. Previously, we identified 2 gain-of-function somatic mutations in patients presenting with multiple paragangliomas or somatostatinomas, and polycythemia. Here, we report 2 additional unique HIF2A mutations, which disrupt the hydroxylation domain recognized by prolyl hydroxylase domain-2 containing protein, leading to stabilization of HIF-2α and increased expression of hypoxia-related genes.

Published
2013
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results