Publications by authors named "Douglas Marchuk"

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Guidelines for the Diagnosis and Clinical Management of Cavernous Malformations of the Brain and Spinal Cord: Consensus Recommendations Based on a Systematic Literature Review by the Alliance to Cure Cavernous Malformation Clinical Advisory Board Experts Panel.
Amy L Akers, John Albanese, Roberto J Alcazar-Felix, Rustam Al-Shahi Salman, Issam A Awad, Douglas A Marchuk

Neurosurgery· January 2026

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Recurrent somatic copy number alterations in resected cerebral cavernous malformations.
Andrew K Ressler, Evon Debose-Scarlett, Amanda Fuenzalida, Rhonda Lightle, Shantel Weinsheimer, Douglas A Marchuk

Hum Genomics· December 2025

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Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome.
Sandra D Castillo, Xabier Perosanz, Andrew K Ressler, Marta Ivars, Jairo Rodríguez, Douglas A Marchuk

Cancer Discov· July 2025

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Except for Robust Outliers, Rapamycin Increases Lesion Burden in a Murine Model of Cerebral Cavernous Malformations.
Roberto J Alcazar-Felix, Robert Shenkar, Christian R Benavides, Akash Bindal, Abhinav Srinath, Douglas A Marchuk

Transl Stroke Res· June 2025

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The Role of Somatic Mutation in Hereditary Hemorrhagic Telangiectasia Pathogenesis.
Evon DeBose-Scarlett, Douglas A Marchuk

J Clin Med· June 2025

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Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.
Evon DeBose-Scarlett, Andrew K Ressler, Carol J Gallione, Gonzalo Sapisochin Cantis, Cassi Friday, Douglas A Marchuk

Am J Hum Genet· April 2025

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Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in .
Evon DeBose-Scarlett, Andrew K Ressler, Cassi Friday, Kara K Prickett, James W Roberts, Douglas A Marchuk

J Med Genet· March 2025

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Targeting the ferroptosis pathway: A novel compound, AZD1390, protects the brain after ischemic stroke.
Han Kyu Lee, Chao-Chieh Lin, Denise E Dunn, Yubin Chen, Ssu-Yu Chen, Douglas A Marchuk

bioRxiv· February 2025

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Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.
Evon DeBose-Scarlett, Andrew K Ressler, Carol J Gallione, Gonzalo Sapisochin Cantis, Cassi Friday, Douglas A Marchuk

Am J Hum Genet· October 2024

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Pathologic features of brain hemorrhage after radiation treatment: case series with somatic mutation analysis.
Roberto J Alcazar-Felix, Abhinav Srinath, Stephanie Hage, Akash Bindal, Andrew Ressler, Douglas A Marchuk

J Stroke Cerebrovasc Dis· July 2024

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Transcriptomic signatures of individual cell types in cerebral cavernous malformation.
Ying Li, Romuald Girard, Abhinav Srinath, Diana Vera Cruz, Cezary Ciszewski, Douglas A Marchuk

Cell Commun Signal· January 2024

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mTORC1 Inhibitor Rapamycin Inhibits Growth of Cerebral Cavernous Malformation in Adult Mice.
Lun Li, Aileen A Ren, Siqi Gao, Yourong S Su, Jisheng Yang, Douglas A Marchuk

Stroke· November 2023

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Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations.
Andrew K Ressler, Daniel A Snellings, Romuald Girard, Carol J Gallione, Rhonda Lightle, Douglas A Marchuk

Nat Commun· November 2023

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Circulating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease.
Sharbel G Romanos, Abhinav Srinath, Ying Li, Bingqing Xie, Chang Chen, Douglas A Marchuk

Transl Stroke Res· August 2023

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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.
Sarah E Wetzel-Strong, Francesca Galeffi, Christian Benavides, Mary Patrucco, Jessica L Bullock, Douglas A Marchuk

Genetics· August 2023

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Cardiac Troponin I-Interacting Kinase Affects Cardiomyocyte S-Phase Activity but Not Cardiomyocyte Proliferation.
Sean P Reuter, Mark H Soonpaa, Dorothy Field, Ed Simpson, Michael Rubart-von der Lohe, Douglas A Marchuk

Circulation· January 2023

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Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.
Carol J Gallione, Matthew R Detter, Adrienne Sheline, Henrietta M Christmas, Cornelia Lee, Douglas A Marchuk

Hum Genet· November 2022

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A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes.
Han Kyu Lee, Do Hoon Kwon, David L Aylor, Douglas A Marchuk

Am J Hum Genet· October 2022

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Rapamycin in Cerebral Cavernous Malformations: What Doses to Test in Mice and Humans.
Matthew J Hagan, Robert Shenkar, Abhinav Srinath, Sharbel G Romanos, Agnieszka Stadnik, Douglas A Marchuk

ACS Pharmacol Transl Sci· May 2022

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Propranolol as therapy for cerebral cavernous malformations: a cautionary note.
Robert Shenkar, Thomas Moore, Christian Benavides, Rhonda Lightle, Matthew R Detter, Douglas A Marchuk

J Transl Med· April 2022

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Developmental venous anomalies are a genetic primer for cerebral cavernous malformations.
Daniel A Snellings, Romuald Girard, Rhonda Lightle, Abhinav Srinath, Sharbel Romanos, Douglas A Marchuk

Nat Cardiovasc Res· March 2022

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Propranolol inhibits cavernous vascular malformations by β1 adrenergic receptor antagonism in animal models.
Wenqing Li, Robert Shenkar, Mathew R Detter, Thomas Moore, Christian Benavides, Douglas A Marchuk

J Clin Invest· October 2021

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Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations.
Sarah E Wetzel-Strong, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Dewi Clark, Douglas A Marchuk

Orphanet J Rare Dis· September 2021

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A Neuroprotective Locus Modulates Ischemic Stroke Infarction Independent of Collateral Vessel Anatomy.
Han Kyu Lee, Sarah E Wetzel-Strong, David L Aylor, Douglas A Marchuk

Front Neurosci· August 2021

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