Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Tyrone DeSpenza"'
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Le Thi Hao, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Quentin J. Moyer, Evan Dennis, Emre Kiziltug, Adam J. Kundishora, Tyrone DeSpenza, Ana B. W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)
Abstract To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human ce
Externí odkaz:
https://doaj.org/article/3ca7b90963454521ac767ab9c7496a24
Autor:
August A. Allocco, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
BackgroundATP1A3 encodes the α3 subunit of the Na+/K+ ATPase, a fundamental ion-transporting enzyme. Primarily expressed in neurons, ATP1A3 is mutated in several autosomal dominant neurological diseases. To our knowledge, damaging recessive genotype
Externí odkaz:
https://doaj.org/article/8d2a0e7fad0f477a99d2250a2c9cda84
Publikováno v:
Neurobiology of Disease, Vol 93, Iss , Pp 12-20 (2016)
Phosphatase and tensin homolog (PTEN) is a major negative regulator of the Akt/mammalian target of rapamycin (MTOR) pathway. Mutations in PTEN have been found in a subset of individuals with autism and macrocephaly. Further, focal cortical dysplasia
Externí odkaz:
https://doaj.org/article/beee82f6346b4ce4a9bdd75be4d83202
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Hao Thi Le, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Adam J. Kundishora, Tyrone DeSpenza, Ana B.W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
bioRxiv
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and severe congenital brain arteriovenous malformation, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee1c52b11848fed120127d869285bb3
https://doi.org/10.1101/2023.03.18.532837
https://doi.org/10.1101/2023.03.18.532837
Autor:
Amrita K. Singh, Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib, John P. Shohfi, Phan Q. Duy, Tyrone DeSpenza, Charuta G Furey, Benjamin C. Reeves, Hannah Smith, Shaojie Ma, André M. M. Sousa, Adriana Cherskov, August Allocco, Carol Nelson-Williams, Shozeb Haider, Syed R. A. Rizvi, Seth L. Alper, Nenad Sestan, Hermela Shimelis, Lauren K. Walsh, Richard P. Lifton, Andres Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz, Kristopher T. Kahle
Publikováno v:
medRxiv
ImportanceHydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery. A few familial forms of congenital hydrocephalus (CH) have been identified, but the cause of most sporadic cases of CH remains e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d5b4777feae2c28d2d2914f370fe856
https://doi.org/10.1101/2023.03.19.23287455
https://doi.org/10.1101/2023.03.19.23287455
Autor:
Tyrone DeSpenza, Emre Kiziltug, Garrett Allington, Daniel G. Barson, David O’Connor, Stephanie M. Robert, Kedous Y. Mekbib, Pranav Nanda, Ana Greenberg, Amrita Singh, Phan Q. Duy, Francesca Mandino, Shujuan Zhao, Anna Lynn, Benjamin C. Reeves, Arnaud Marlier, Stephanie A. Getz, Carol Nelson-Williams, Hermela Shimelis, Lauren K. Walsh, Jinhui Zhang, Wei Wang, Annaliese OuYang, Hannah Smith, William Butler, Bob S. Carter, Engin Deniz, Evelyn M. R. Lake, Todd Constable, Murat Gûnel, Richard P. Lifton, Seth L. Alper, Sheng Chih Jin, Michael C. Crair, Andres Moreno-De-Luca, Bryan W. Luikart, Kristopher T. Kahle
SUMMARYExpansion of the cerebrospinal fluid (CSF)-filled cerebral ventricles (ventriculomegaly) is the quintessential feature of congenital hydrocephalus (CH) but also seen in autism spectrum disorder (ASD) and several neuropsychiatric diseases.PTENi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7667e40127dd5663eea3c40a7991dcaa
https://doi.org/10.1101/2023.03.18.533275
https://doi.org/10.1101/2023.03.18.533275
Autor:
Stephanie M. Robert, Benjamin C. Reeves, Emre Kiziltug, Phan Q. Duy, Jason K. Karimy, M. Shahid Mansuri, Arnaud Marlier, Garrett Allington, Ana B.W. Greenberg, Tyrone DeSpenza, Amrita K. Singh, Xue Zeng, Kedous Y. Mekbib, Adam J. Kundishora, Carol Nelson-Williams, Le Thi Hao, Jinwei Zhang, TuKiet T. Lam, Rashaun Wilson, William E. Butler, Michael L. Diluna, Philip Feinberg, Dorothy P. Schafer, Kiavash Movahedi, Allen Tannenbaum, Sunil Koundal, Xinan Chen, Helene Benveniste, David D. Limbrick, Steven J. Schiff, Bob S. Carter, Murat Gunel, J. Marc Simard, Richard P. Lifton, Seth L. Alper, Eric Delpire, Kristopher T. Kahle
Publikováno v:
Cell. 186:764-785.e21
The choroid plexus (ChP) is the blood-cerebrospinal fluid (CSF) barrier and the primary source of CSF. Acquired hydrocephalus, caused by brain infection or hemorrhage, lacks drug treatments due to obscure pathobiology. Our integrated, multi-omic inve
Autor:
Adam J. Kundishora, Victor Lee, Andrew B. Koo, Cheryl K. Zogg, Michael L. DiLuna, Kristopher T. Kahle, Aladine A. Elsamadicy, Benjamin C. Reeve, Tyrone DeSpenza, Christopher S. Hong, Wyatt B. David
Publikováno v:
World Neurosurg
OBJECTIVE: The aim of this study was to investigate the national impact of demographic, hospital, and inpatient risk factors on posttraumatic hydrocephalus (PTH) development in pediatric patients who presented to the emergency department after a trau
Autor:
Aladine A. Elsamadicy, Michael L. DiLuna, Isaac G. Freedman, Cheryl K. Zogg, Adam J. Kundishora, Christopher S. Hong, Andrew B. Koo, Megan Lee, Kristopher T. Kahle, Tyrone DeSpenza, Wyatt B. David, Margot Sarkozy
Publikováno v:
World Neurosurg
OBJECTIVE: For adult patients undergoing surgical decompression for Chiari malformation type I (CM-I), the patient-level factors that influence extended length of stay (LOS) are relatively unknown. The aim of this study was to investigate the impact
Autor:
Phan Q. Duy, Stefan C. Weise, Claudia Marini, Xiao-Jun Li, Dan Liang, Peter J. Dahl, Shaojie Ma, Ana Spajic, Weilai Dong, Jane Juusola, Emre Kiziltug, Adam J. Kundishora, Sunil Koundal, Maysam Z. Pedram, Lucia A. Torres-Fernández, Kristian Händler, Elena De Domenico, Matthias Becker, Thomas Ulas, Stefan A. Juranek, Elisa Cuevas, Le Thi Hao, Bettina Jux, André M. M. Sousa, Fuchen Liu, Suel-Kee Kim, Mingfeng Li, Yiying Yang, Yutaka Takeo, Alvaro Duque, Carol Nelson-Williams, Yonghyun Ha, Kartiga Selvaganesan, Stephanie M. Robert, Amrita K. Singh, Garrett Allington, Charuta G. Furey, Andrew T. Timberlake, Benjamin C. Reeves, Hannah Smith, Ashley Dunbar, Tyrone DeSpenza, June Goto, Arnaud Marlier, Andres Moreno-De-Luca, Xin Yu, William E. Butler, Bob S. Carter, Evelyn M. R. Lake, R. Todd Constable, Pasko Rakic, Haifan Lin, Engin Deniz, Helene Benveniste, Nikhil S. Malvankar, Juvianee I. Estrada-Veras, Christopher A. Walsh, Seth L. Alper, Joachim L. Schultze, Katrin Paeschke, Angelika Doetzlhofer, F. Gregory Wulczyn, Sheng Chih Jin, Richard P. Lifton, Nenad Sestan, Waldemar Kolanus, Kristopher T. Kahle
Publikováno v:
Nat Neurosci
Nature neuroscience 25(4), 458-473 (2022). doi:10.1038/s41593-022-01043-3
Nature neuroscience 25(4), 458-473 (2022). doi:10.1038/s41593-022-01043-3
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the leading reason for brain surgery in children despite considerable d