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Douglas A. Marchuk

Douglas A. Marchuk

D-Index & Metrics

Genetics

D-Index
84
Citations
28410
World Ranking
1358
National Ranking
641

Medicine

D-Index
86
Citations
31515
World Ranking
13989
National Ranking
7100

Research.com Recognitions

  • 2007 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Douglas A. Marchuk is affiliated with Duke University in the United States. Their research primarily lies within the field of Medicine, with a particular focus on Neurology, Genetics, Surgery, Pulmonary and Respiratory Medicine, and Molecular Biology.

The scientist's research topics broadly cover vascular and neurological conditions. These include:

  • Vascular Malformations Diagnosis and Treatment
  • Intracranial Aneurysms: Treatment and Complications
  • Vascular Anomalies and Treatments
  • Intracerebral and Subarachnoid Hemorrhage Research
  • Vascular Malformations and Hemangiomas
  • Tracheal and airway disorders
  • Tumors and Oncological Cases

Douglas A. Marchuk has contributed to multiple scientific publications across several prominent journals. Frequent publication venues include:

  • Stroke
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Orphanet Journal of Rare Diseases
  • The American Journal of Human Genetics
  • Angiogenesis

Among recent papers authored or co-authored by Marchuk are:

  • PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism, 2021, Nature
  • Cerebral Cavernous Malformation: From Mechanism to Therapy, 2021, Circulation Research
  • Novel Murine Models of Cerebral Cavernous Malformations, 2020, Angiogenesis
  • A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis, 2022, Angiogenesis
  • Cerebral cavernous malformations are driven by ADAMTS5 proteolysis of versican, 2020, The Journal of Experimental Medicine

Collaborations in research have frequently involved several co-authors with whom Marchuk has worked on numerous publications. Frequent co-authors include:

  • Issam A. Awad
  • Helen Kim
  • Marie E. Faughnan
  • Romuald Girard
  • Rhonda Lightle

Douglas A. Marchuk was recognized as a Fellow of the American Association for the Advancement of Science (AAAS) in 2007.

Best Publications

  • Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

    Margaret R. Wallace;Douglas A. Marchuk;Lone B. Andersen;Roxanne Letcher

  • Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products.

    Douglas Marchuk;Mitchell L Drumm;Ann Saulino;Francis S. Collins

  • Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

    D.W. Johnson;J.N. Berg;J.N. Berg;M.A. Baldwin;C.J. Gallione

  • Hereditary Hemorrhagic Telangiectasia

    Alan E. Guttmacher;Douglas A. Marchuk;Robert I. White

  • Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

    Matthew D. Shirley;Hao Tang;Carol J. Gallione;Joseph D. Baugher;Joseph D. Baugher

  • The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins.

    Roymarie Ballester;Douglas A. Marchuk;Douglas A. Marchuk;Mark Boguski;Ann M. Saulino;Ann M. Saulino

  • Vascular Dysmorphogenesis Caused by an Activating Mutation in the Receptor Tyrosine Kinase TIE2

    Miikka Vikkula;Laurence M Boon;Kermit L.Carraway;Jennifer T Calvert

  • A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

    Carol J Gallione;Gabriela M Repetto;Eric Legius;Anil K Rustgi

  • A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

    Evan Reid;Mark Kloos;Allison Ashley-Koch;Lori Hughes

  • Endoglin, an Ancillary TGFβ Receptor, Is Required for Extraembryonic Angiogenesis and Plays a Key Role in Heart Development

    Helen M. Arthur;Jan Ure;Andrew J.H. Smith;Glenn Renforth

  • cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product

    Douglas A. Marchuk;Ann M. Saulino;Roxanne Tavakkol;Manju Swaroop

  • Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.

    Eric Legius;Eric Legius;Douglas A. Marchuk;Francis S. Collins;Thomas W. Glover

  • Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)

    Trilochan Sahoo;Eric W. Johnson;James W. Thomas;Peter M. Kuehl

  • The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

    Kevin J. Whitehead;Aubrey C. Chan;Sutip Navankasattusas;Wonshill Koh

  • Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

    Christina L. Liquori;Michel J. Berg;Adrian M. Siegel;Elizabeth Huang

  • Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

    Amy L. Akers;Eric Johnson;Gary K. Steinberg;Joseph M. Zabramski

  • Serotonin-related gene polymorphisms and central nervous system serotonin function.

    Redford B Williams;Douglas A Marchuk;Kishore M Gadde;John C Barefoot

  • The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

    Jonathan N. Berg;Jonathan N. Berg;Carol J. Gallione;Timothy T. Stenzel;Timothy T. Stenzel;David W. Johnson

  • SMAD4 Mutations found in unselected HHT patients

    Carol J. Gallione;Jennifer A. Richards;T.G.W. Letteboer;Diane Rushlow

  • CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

    Jon S. Zawistowski;Lisa Stalheim;Mark T. Uhlik;Amy N. Abell

Frequent Co-Authors

Issam A. Awad
Issam A. Awad University of Chicago
Francis S. Collins
Francis S. Collins National Institutes of Health
Michael T. Lawton
Michael T. Lawton Barrow Neurological Institute
Howard A. Rockman
Howard A. Rockman Duke University
Charles E. McCulloch
Charles E. McCulloch University of California, San Francisco
Mark L. Kahn
Mark L. Kahn University of Pennsylvania
Margaret R. Wallace
Margaret R. Wallace University of Florida
Margaret A. Pericak-Vance
Margaret A. Pericak-Vance University of Miami
Mark H. Ginsberg
Mark H. Ginsberg University of California, San Diego
Jonathan Pevsner
Jonathan Pevsner National Institute of Mental Health

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