Douglas A. Marchuk
1983–2025 年に発表
- 106
- 論文数
- 22,319
- 被引用数
- 77
- h 指数
- 102
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine56.1%
- Biochemistry, Genetics and Molecular Biology32.7%
- Neuroscience7.2%
- Immunology and Microbiology1.1%
- Agricultural and Biological Sciences1%
- Psychology0.7%
- その他1.2%
トピック
- Vascular Malformations Diagnosis and Treatment5.2%
- Vascular Anomalies and Treatments4.2%
- Vascular Malformations and Hemangiomas4.2%
- Neurofibromatosis and Schwannoma Cases3.6%
- Angiogenesis and VEGF in Cancer2.7%
- TGF-β signaling in diseases2.4%
- その他77.7%
共著者
- Carol J. Gallione24
- Issam A. Awad20
- Robert Shenkar18
- Rhonda Lightle15
- Romuald Girard15
- Thomas Moore12
- Changbin Shi9
- Mark L. Kahn9
- Amy Akers8
- Francis S. Collins8
- Helen Kim8
- Mark H. Ginsberg8
- Michael T. Lawton8
- Ying Cao8
- Alan E. Guttmacher7
- Charles E. Jackson7
- Daniel Snellings7
- Ingrid K. Svenson7
- Janne Koskimäki7
- Ludmila Pawlikowska7
- Marie E. Faughnan7
- Mary Porteous7
- Nicholas Hobson7
- Sharbel Romanos7
全論文
- Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
著者: Matthew D. Shirley, Hao Tang, Carol J. Gallione, Joseph D. Baugher, Laurence P. Frelin, Bernard A. Cohen, Paula E. North, Douglas A. Marchuk, Anne M. Comi, Jonathan Pevsner - New England Journal of Medicine 2013 被引用: 1,092
- PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism
著者: Aileen A. Ren, Daniel Snellings, YouRong Sophie Su, Courtney C. Hong, Marco Castro, Alan T. Tang, Matthew R. Detter, Nicholas Hobson, Romuald Girard, Sharbel Romanos, Rhonda Lightle, Thomas Moore, Robert Shenkar, Christian Benavides, M. Makenzie Beaman, Helge Müller‐Fielitz, Mei Chen, Patricia Mericko, Jisheng Yang, Derek C. Sung, Michael T. Lawton, J. Michael Ruppert, Markus Schwaninger, Jakob Körbelin, Michael Potente, Issam A. Awad, Douglas A. Marchuk, Mark L. Kahn - Nature 2021 被引用: 193
- Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
著者: Kimberly A. McAllister, K.M. Grogg, David W. Johnson, Carol J. Gallione, Melanie A. Baldwin, Charles E. Jackson, E.A. Helmbold, Dorene S. Markel, Wendy McKinnon, J. Murrel, Mary Kay McCormick, M. A. Pericak‐Vance, Peter Heutink, Ben A. Oostra, T. Haitjema, C.J.J. Westerman, Mary Porteous, Alan E. Guttmacher, Michelle Letarte, Douglas A. Marchuk - Nature Genetics 1994 被引用: 1,498
- Cerebral Cavernous Malformation: From Mechanism to Therapy
著者: Daniel Snellings, Courtney C. Hong, Aileen A. Ren, Miguel Alejandro Lopez‐Ramirez, Romuald Girard, Abhinav Srinath, Douglas A. Marchuk, Mark H. Ginsberg, Issam A. Awad, Mark L. Kahn - Circulation Research 2021 被引用: 197
- Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
著者: David W. Johnson, Jonathan Berg, Melanie A. Baldwin, Carol J. Gallione, Ivonne Marondel, Sang-Heon Yoon, Timothy T. Stenzel, Marcy C. Speer, M. A. Pericak‐Vance, Austin G. Diamond, Alan E. Guttmacher, Charles E. Jackson, Liliana Attisano, Raju Kucherlapati, Mary Porteous, Douglas A. Marchuk - Nature Genetics 1996 被引用: 1,126
- A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)
著者: Carol J. Gallione, Gabriela M. Repetto, Eric Legius, Anil K. Rustgi, Susan Schelley, Sabine Tejpar, Grant A. Mitchell, Éric Drouin, Cornelius J.J. Westermann, Douglas A. Marchuk - The Lancet 2004 被引用: 754
- Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1
著者: Daniel Snellings, Carol J. Gallione, Dewi Clark, Nicholas T. Vozoris, Marie E. Faughnan, Douglas A. Marchuk - The American Journal of Human Genetics 2019 被引用: 138
- The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases
著者: Kevin J. Whitehead, Aubrey C. Chan, Sutip Navankasattusas, Wonshill Koh, Nyall R. London, Ling Jing, Anne H Mayo, Stavros G. Drakos, Christopher A. Jones, Weiquan Zhu, Douglas A. Marchuk, George E. Davis, Dean Y. Li - Nature Medicine 2009 被引用: 376
- The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins
著者: Roymarie Ballester, Douglas A. Marchuk, Mark S. Boguski, Ann Saulino, Roxanne Letcher, Michael Wigler, Francis S. Collins - Cell 1990 被引用: 867
- Vascular Dysmorphogenesis Caused by an Activating Mutation in the Receptor Tyrosine Kinase TIE2
著者: Miikka Vikkula, Laurence M. Boon, Kermit L. Carraway, Jennifer T. Calvert, A. John Diamonti, Boyan C. Goumnerov, Krystyna A. Pasyk, Douglas A. Marchuk, Matthew L. Warman, Lewis C. Cantley, John B. Mulliken, Bjørn R. Olsen - Cell 1996 被引用: 812
- Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients
著者: Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen, Roxanne Letcher, Hana M. Odeh, Ann M. Saulino, Jane W. Fountain, Anne Brereton, Jane M. Nicholson, Anna L. Mitchell, Bernard H. Brownstein, Francis S. Collins - Science 1990 被引用: 1,486
- A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)
著者: Evan Reid, Mark Kloos, Allison E. Ashley‐Koch, L.A. Hughes, Simon Bevan, Ingrid K. Svenson, Felicia L. Graham, P. C. Gaskell, Andrew Dearlove, Margaret A. Pericak‐Vance, David C. Rubinsztein, Douglas A. Marchuk - The American Journal of Human Genetics 2002 被引用: 540
- Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis
著者: Amy Akers, Eric W. Johnson, Gary K. Steinberg, Joseph M. Zabramski, Douglas A. Marchuk - Human Molecular Genetics 2008 被引用: 286
- Developmental venous anomalies are a genetic primer for cerebral cavernous malformations
著者: Daniel Snellings, Romuald Girard, Rhonda Lightle, Abhinav Srinath, Sharbel Romanos, Ying Li, Chang Chen, Aileen A. Ren, Mark L. Kahn, Issam A. Awad, Douglas A. Marchuk - Nature Cardiovascular Research 2022 被引用: 46
- SMAD4 mutations found in unselected HHT patients
著者: Carol J. Gallione, Jjais Richards, Tom G.W. Letteboer, Diane Rushlow, Nadia L. Prigoda, Tracey P. Leedom, Arupa Ganguly, Antoni Castells, Hans Kristian Ploos van Amstel, C. J. J. Westermann, Reed E. Pyeritz, Douglas A. Marchuk - Journal of Medical Genetics 2006 被引用: 256
- Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells
著者: Matthew R. Detter, Daniel Snellings, Douglas A. Marchuk - Circulation Research 2018 被引用: 115
- A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis
著者: Francesca Galeffi, Daniel Snellings, Sarah E. Wetzel‐Strong, Nicolai Kastelić, Jessica L Bullock, Carol J. Gallione, Paula E. North, Douglas A. Marchuk - Angiogenesis 2022 被引用: 49
- Rho Kinase Inhibition Blunts Lesion Development and Hemorrhage in Murine Models of Aggressive Pdcd10/Ccm3 Disease
著者: Robert Shenkar, Amy Peiper, Heidy Pardo, Thomas Moore, Rhonda Lightle, Romuald Girard, Nicholas Hobson, Sean P. Polster, Janne Koskimäki, Dongdong Zhang, Séan Lyne, Ying Cao, Kiranj Chaudagar, Laleh Saadat, Carol J. Gallione, Peter Pytel, James K. Liao, Douglas A. Marchuk, Issam A. Awad - Stroke 2019 被引用: 58
- A Brain-Targeted Orally Available ROCK2 Inhibitor Benefits Mild and Aggressive Cavernous Angioma Disease
著者: Lisa McKerracher, Robert Shenkar, Matthew Abbinanti, Ying Cao, Amy Peiper, James K. Liao, Rhonda Lightle, Thomas Moore, Nicholas Hobson, Carol J. Gallione, Joerg Ruschel, Janne Koskimäki, Romuald Girard, Kenneth Rosen, Douglas A. Marchuk, Issam A. Awad - Translational Stroke Research 2019 被引用: 40
- Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)
著者: Trilochan Sahoo, Eric W. Johnson, James W. Thomas, Peter Kuehl, Tamara L. Jones, C. G. Dokken, Jeffrey W. Touchman, Carol J. Gallione, S.-Q. Lee-Lin, Barry E. Kosofsky, Janice Kurth, David N. Louis, Gabrielle Mettler, Leslie Morrison, António Gil‐Nagel, Stephen S. Rich, Joseph M. Zabramski, Mark S. Boguski, Eric D. Green, Douglas A. Marchuk - Human Molecular Genetics 1999 被引用: 388
- Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations
著者: Robert Shenkar, Changbin Shi, Tania Rebeiz, Rebecca Stockton, David A. McDonald, Abdul Ghani Mikati, Lingjiao Zhang, Cecilia Austin, Amy Akers, Carol J. Gallione, Autumn Rorrer, Murat Günel, Min Wang, Jorge Marcondes de Souza, Connie Lee, Douglas A. Marchuk, Issam A. Awad - Genetics in Medicine 2014 被引用: 165
- RhoA Kinase Inhibition With Fasudil Versus Simvastatin in Murine Models of Cerebral Cavernous Malformations
著者: Robert Shenkar, Changbin Shi, Cecilia Austin, Thomas Moore, Rhonda Lightle, Ying Cao, Lingjiao Zhang, Meijing Wu, Hussein A. Zeineddine, Romuald Girard, David A. McDonald, Autumn Rorrer, Carol J. Gallione, Peter Pytel, James K. Liao, Douglas A. Marchuk, Issam A. Awad - Stroke 2016 被引用: 105
- Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation
著者: Alan T. Tang, Katie Rose Sullivan, Courtney C. Hong, Lauren M. Goddard, Aparna Mahadevan, Aileen A. Ren, Heidy Pardo, Amy Peiper, Erin Griffin, Ceylan Tanes, Lisa M. Mattei, Jisheng Yang, Li Li, Patricia Mericko-Ishizuka, Le Shen, Nicholas Hobson, Romuald Girard, Rhonda Lightle, Thomas Moore, Robert Shenkar, Sean P. Polster, Claudia Jasmin Rödel, Ning Li, Qin Zhu, Kevin J. Whitehead, Xiangjian Zheng, Amy Akers, Leslie Morrison, Helen Kim, Kyle Bittinger, Christopher J. Lengner, Markus Schwaninger, Anna Velcich, Leonard H. Augenlicht, Salim Abdelilah‐Seyfried, Min Wang, Douglas A. Marchuk, Issam A. Awad, Mark L. Kahn - Science Translational Medicine 2019 被引用: 73
- Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome
著者: Lindsay Smegal, Alison Sebold, Adrienne M. Hammill, Csaba Juhász, Warren Lo, Daniel K. Miles, Angus A. Wilfong, Alex V. Levin, Brian Fisher, Karen L. Ball, Anna Pinto, Anne M. Comi, Jim Koenig, Michael T. Lawton, Douglas A. Marchuk, Marsha A. Moses, Sharon F. Freedman, Jonathan Pevsner - Pediatric Neurology 2021 被引用: 32
