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Douglas A. Marchuk

Max Delbrück Center for Molecular Medicine

77H-index
305Paper Count
2.5WCitation Count
Published Papers 114
Publication Date
TIE2 links MEKK3-KLF2/4 and PI3K signaling in cerebral cavernous malformation
err2026-03-27
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PREAI
errLi, Lun; Castro, Marco; Hongo, Hiroki; Ren, Jian; Shenkar, Robert; Jabarkheel, Rashad; Gao, Siqi; Narayan, Sweta; Frankfurter, Maxwell; Tang, Alan T.; Yang, Jisheng; Chen, Mei; Bockman, Jenna; Mericko-Ishizuka, Patricia; Alcazar, Roberto; Sader, Georgio; Iqbal, Javed; Kinkade, Serena; Lightle, Rhonda; Ressler, Andrew K.; Qu, Xianghu; Baldwin, H. Scott; Marchuk, Douglas A.; Awad, Issam A.; Burkhardt, Jan-Karl; Potente, Michael; Kahn, Mark L.
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Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis (vol 111, pg 2283, 2024)
err2025-04-01
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PREAI
errDeBose-Scarlett, Evon; Ressler, Andrew K.; Gallione, Carol J.; Cantis, Gonzalo Sapisochin; Friday, Cassi; Weinsheimer, Shantel; Schimmel, Katharina; Spiekerkoetter, Edda; Kim, Helen; Gossage, James R.; Faughnan, Marie E.; Marchuk, Douglas A.
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Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4
err2025-02-12
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PREAI
errDeBose-Scarlett, Evon; Ressler, Andrew K.; Friday, Cassi; Prickett, Kara K.; Roberts, James W.; Gossage, James R.; Marchuk, Douglas A.
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Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis
err2024-10-01
err2
PREAI
errDeBose-Scarlett, Evon; Ressler, Andrew K.; Gallione, Carol J.; Cantis, Gonzalo Sapisochin; Friday, Cassi; Weinsheimer, Shantel; Schimmel, Katharina; Spiekerkoetter, Edda; Kim, Helen; Gossage, James R.; Faughnan, Marie E.; Marchuk, Douglas A.
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Except for Robust Outliers, Rapamycin Increases Lesion Burden in a Murine Model of Cerebral Cavernous Malformations
err2024-07-09
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PREAI
errAlcazar-Felix, Roberto J.; Shenkar, Robert; Benavides, Christian R.; Bindal, Akash; Srinath, Abhinav; Li, Ying; Kinkade, Serena; Terranova, Tatiana; DeBose-Scarlett, Evon; Lightle, Rhonda; Debiasse, Dorothy; Almazroue, Hanadi; Cruz, Diana Vera; Romanos, Sharbel; Jhaveri, Aditya; Koskimaki, Janne; Hage, Stephanie; Bennett, Carolyn; Girard, Romuald; Marchuk, Douglas A.; Awad, Issam A.
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Transcriptomic signatures of individual cell types in cerebral cavernous malformation
err2024-01-09
err4
errOAAI
errLi, Ying; Girard, Romuald; Srinath, Abhinav; Cruz, Diana Vera; Ciszewski, Cezary; Chen, Chang; Lightle, Rhonda; Romanos, Sharbel; Sone, Je Yeong; Moore, Thomas; Debiasse, Dorothy; Stadnik, Agnieszka; Lee, Justine J.; Shenkar, Robert; Koskimaki, Janne; Lopez-Ramirez, Miguel A.; Marchuk, Douglas A.; Ginsberg, Mark H.; Kahn, Mark L.; Shi, Changbin; Awad, Issam A.
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Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations
err2023-11-02
err2
errOAAI
errRessler, Andrew K.; Snellings, Daniel A.; Girard, Romuald; Gallione, Carol J.; Lightle, Rhonda; Allen, Andrew S.; Awad, Issam A.; Marchuk, Douglas A.
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mTORC1 Inhibitor Rapamycin Inhibits Growth of Cerebral Cavernous Malformation in Adult Mice
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IF8.9
err2023-11-01
err4
errOAAI
errLi, Lun; Ren, Aileen A.; Gao, Siqi; Su, Yourong S.; Yang, Jisheng; Bockman, Jenna; Mericko-Ishizuka, Patricia; Griffin, Joanna; Shenkar, Robert; Alcazar, Roberto; Moore, Thomas; Lightle, Rhonda; DeBiasse, Dorothy; Awad, Issam A.; Marchuk, Douglas A.; Kahn, Mark L.; Burkhardt, Jan-Karl
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Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis
err2023-04-25
err9
errOAAI
errWetzel-Strong, Sarah E.; Galeffi, Francesca; Benavides, Christian; Patrucco, Mary; Bullock, Jessica L.; Gallione, Carol J.; Lee, Han Kyu; Marchuk, Douglas A.
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Cardiac Troponin I-Interacting Kinase Affects Cardiomyocyte S-Phase Activity but Not Cardiomyocyte Proliferation
err2023-01-10
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errOAAI
errReuter, Sean P.; Soonpaa, Mark H.; Field, Dorothy; Simpson, Ed; Rubart-von der Lohe, Michael; Lee, Han Kyu; Sridhar, Arthi; Ware, Stephanie M.; Green, Nick; Li, Xiaochun; Ofner, Susan; Marchuk, Douglas A.; Wollert, Kai C.; Field, Loren J.
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Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia
err2022-11-07
err9
errOAAI
errThompson, K. P.; Sykes, J.; Chandakkar, P.; Marambaud, P.; Vozoris, N. T.; Marchuk, D. A.; Faughnan, M. E.
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Circulating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease
err2022-06-17
err1
PREAI
errRomanos, Sharbel G.; Srinath, Abhinav; Li, Ying; Xie, Bingqing; Chen, Chang; Li, Yan; Moore, Thomas; Bi, Dehua; Sone, Je Yeong; Lightle, Rhonda; Hobson, Nick; Zhang, Dongdong; Koskimaki, Janne; Shen, Le; McCurdy, Sara; Lai, Catherine Chinhchu; Stadnik, Agnieszka; Piedad, Kristina; Carrion-Penagos, Julian; Shkoukani, Abdallah; Snellings, Daniel; Shenkar, Robert; Sulakhe, Dinanath; Ji, Yuan; Lopez-Ramirez, Miguel A.; Kahn, Mark L.; Marchuk, Douglas A.; Ginsberg, Mark H.; Girard, Romuald; Awad, Issam A.
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A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis
err2022-05-30
err13
errOAAI
errGaleffi, F.; Snellings, D. A.; Wetzel-Strong, S. E.; Kastelic, N.; Bullock, J.; Gallione, C. J.; North, P. E.; Marchuk, D. A.
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Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene
err2022-04-30
err1
errOAAI
errGallione, Carol J.; Detter, Matthew R.; Sheline, Adrienne; Christmas, Henrietta M.; Lee, Cornelia; Marchuk, Douglas A.
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Propranolol as therapy for cerebral cavernous malformations: a cautionary note
err2022-04-05
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errOAAI
errShenkar, Robert; Moore, Thomas; Benavides, Christian; Lightle, Rhonda; Detter, Matthew R.; Hobson, Nicholas; Girard, Romuald; DeBiasse, Dorothy; Patrucco, Mary; Gallione, Carol; Zabramski, Joseph M.; Marchuk, Douglas A.; Awad, Issam A.
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Developmental venous anomalies are a genetic primer for cerebral cavernous malformations
err2022-03-14
err27
errOAAI
errSnellings, Daniel A.; Girard, Romuald; Lightle, Rhonda; Srinath, Abhinav; Romanos, Sharbel; Li, Ying; Chen, Chang; Ren, Aileen A.; Kahn, Mark L.; Awad, Issam A.; Marchuk, Douglas A.
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Multi-omic Biomarker Development In A Mendelian Neurovascular Disease, Cavernous Angioma
errSTROKE
IF8.9
err2022-02-01
err0
PREAI
errSrinath, Abhinav; Romanos, Sharbel; Li Ying; Xie Bingqing; Chen Chang; Moore, Thomas; Lightle, Rhonda; DeBiasse, Dorothy; Sone, Je Yeong Y.; Shen Le; McCurdy, Sara G.; Lai, Catherine; Stadnik, Agnieszka; Piedad, Kristina; Dorrestein, Pieter; Weldon, Kelly; Snellings, Daniel; Shenkar, Robert; Gilbert, Jack; D'Souza, Mark; Sulakhe, Dinanath; Ji Yuan; Lopez-ramirez, Miguel A.; Kahn, Mark L.; Marchuk, Douglas A.; Ginsberg, Mark H.; Girard, Romuald; Awad, Issam A.
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Propranolol inhibits cavernous vascular malformations by β1 adrenergic receptor antagonism in animal models (vol 131, e144893, 2021)
err2021-10-01
err7
errOAAI
errLi, Wenqing; Shenkar, Robert; Detter, Mathew R.; Moore, Thomas; Benavides, Christian; Lightle, Rhonda; Girard, Romuald; Hobson, Nicholas; Cao, Ying; Li, Yan; Griffin, Erin; Gallione, Carol; Zabramski, Joseph M.; Ginsberg, Mark H.; Marchuk, Douglas A.; Awad, Issam A.
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Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia
err2021-09-19
err1
errOAAI
errThompson, K. P.; Nelson, J.; Kim, H.; Weinsheimer, S. M.; Marchuk, D. A.; Lawton, M. T.; Krings, T.; Faughnan, M. E.
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