Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1
Snellings, Daniel A., Gallione, Carol J., Clark, Dewi S., Vozoris, Nicholas T., Faughnan, Marie E., Marchuk, Douglas A.
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
Shirley, Matthew D, Tang, Hao, Gallione, Carol J, Baugher, Joseph D, Frelin, Laurence P, Cohen, Bernard, North, Paula E, Marchuk, Douglas A, Comi, Anne M, Pevsner, Jonathan
Published in The New England journal of medicine (23.05.2013)
Published in The New England journal of medicine (23.05.2013)
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Journal Article
Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations
Ressler, Andrew K., Snellings, Daniel A., Girard, Romuald, Gallione, Carol J., Lightle, Rhonda, Allen, Andrew S., Awad, Issam A., Marchuk, Douglas A.
Published in Nature communications (02.11.2023)
Published in Nature communications (02.11.2023)
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Journal Article
Developmental expression of the Sturge–Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis
Wetzel-Strong, Sarah E, Galeffi, Francesca, Benavides, Christian, Patrucco, Mary, Bullock, Jessica L, Gallione, Carol J, Lee, Han Kyu, Marchuk, Douglas A
Published in Genetics (Austin) (09.08.2023)
Published in Genetics (Austin) (09.08.2023)
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Journal Article
Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis
McDonald, David A, Shi, Changbin, Shenkar, Robert, Gallione, Carol J, Akers, Amy L, Li, Stephanie, De Castro, Nicholas, Berg, Michel J, Corcoran, David L, Awad, Issam A, Marchuk, Douglas A
Published in Human molecular genetics (15.08.2014)
Published in Human molecular genetics (15.08.2014)
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Journal Article
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations
Shenkar, Robert, Shi, Changbin, Rebeiz, Tania, Stockton, Rebecca A., McDonald, David A., Mikati, Abdul Ghani, Zhang, Lingjiao, Austin, Cecilia, Akers, Amy L., Gallione, Carol J., Rorrer, Autumn, Gunel, Murat, Min, Wang, Marcondes de Souza, Jorge, Lee, Connie, Marchuk, Douglas A., Awad, Issam A.
Published in Genetics in medicine (01.03.2015)
Published in Genetics in medicine (01.03.2015)
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Journal Article
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis
DeBose-Scarlett, Evon, Ressler, Andrew K., Gallione, Carol J., Sapisochin Cantis, Gonzalo, Friday, Cassi, Weinsheimer, Shantel, Schimmel, Katharina, Spiekerkoetter, Edda, Kim, Helen, Gossage, James R., Faughnan, Marie E., Marchuk, Douglas A.
Published in American journal of human genetics (03.10.2024)
Published in American journal of human genetics (03.10.2024)
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Journal Article
Novel Murine Models of Cerebral Cavernous Malformations
Detter, Matthew R., Shenkar, Robert, Benavides, Christian R., Neilson, Catherine A., Moore, Thomas, Lightle, Rhonda, Hobson, Nicholas, Shen, Le, Cao, Ying, Girard, Romuald, Zhang, Dongdong, Griffin, Erin, Gallione, Carol J., Awad, Issam A., Marchuk, Douglas A.
Published in Angiogenesis (London) (01.11.2020)
Published in Angiogenesis (London) (01.11.2020)
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Journal Article
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
Gallione, Carol J, Repetto, Gabriela M, Legius, Eric, Rustgi, Anil K, Schelley, Susan L, Tejpar, Sabine, Mitchell, Grant, Drouin, Éric, Westermann, Cornelius JJ, Marchuk, Douglas A
Published in The Lancet (British edition) (13.03.2004)
Published in The Lancet (British edition) (13.03.2004)
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Journal Article
Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke
Keum, Sehoon, Lee, Han Kyu, Chu, Pei-Lun, Kan, Matthew J, Huang, Min-Nung, Gallione, Carol J, Gunn, Michael D, Lo, Donald C, Marchuk, Douglas A
Published in PLoS genetics (01.10.2013)
Published in PLoS genetics (01.10.2013)
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Journal Article
Propranolol as therapy for cerebral cavernous malformations: a cautionary note
Shenkar, 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
Published in Journal of translational medicine (05.04.2022)
Published in Journal of translational medicine (05.04.2022)
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Journal Article
Micro-computed tomography in murine models of cerebral cavernous malformations as a paradigm for brain disease
Girard, Romuald, Zeineddine, Hussein A., Orsbon, Courtney, Tan, Huan, Moore, Thomas, Hobson, Nick, Shenkar, Robert, Lightle, Rhonda, Shi, Changbin, Fam, Maged D., Cao, Ying, Shen, Le, Neander, April I., Rorrer, Autumn, Gallione, Carol, Tang, Alan T., Kahn, Mark L., Marchuk, Douglas A., Luo, Zhe-Xi, Awad, Issam A.
Published in Journal of neuroscience methods (15.09.2016)
Published in Journal of neuroscience methods (15.09.2016)
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Journal Article
Loss of p53 Sensitizes Mice with a Mutation in Ccm1 (KRIT1) to Development of Cerebral Vascular Malformations
Plummer, Nicholas W., Gallione, Carol J., Srinivasan, Sudha, Zawistowski, Jon S., Louis, David N., Marchuk, Douglas A.
Published in The American journal of pathology (01.11.2004)
Published in The American journal of pathology (01.11.2004)
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Journal Article
Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)
Sahoo, Trilochan, Johnson, Eric W., Thomas, James W., Kuehl, Peter M., Jones, Thomas L., Dokken, Charles G., Touchman, Jeffrey W., Gallione, Carol J., Lee-Lin, Shih-Queen, Kosofsky, Barry, Kurth, Janice H., Louis, David N., Mettler, Gabrielle, Morrison, Leslie, Gil-Nagel, Antonio, Rich, Steven S., Zabramski, Joseph M., Boguski, Mark S., Green, EricD, Marchuk, Douglas A.
Published in Human molecular genetics (01.11.1999)
Published in Human molecular genetics (01.11.1999)
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Journal Article
A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations
Gallione, Carol J., Solatycki, Ann, Awad, Issam A., Weber, James L., Marchuk, Douglas A.
Published in Genetics in medicine (01.07.2011)
Published in Genetics in medicine (01.07.2011)
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Journal Article
Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1
Lux, Andreas, Beil, Christian, Majety, Meher, Barron, Suzanne, Gallione, Carol J, Kuhn, Hella-Monika, Berg, Jonathan N, Kioschis, Petra, Marchuk, Douglas A, Hafner, Mathias
Published in The Journal of biological chemistry (04.03.2005)
Published in The Journal of biological chemistry (04.03.2005)
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Journal Article
Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis
Mazzucco, Sara, Benini, Luigi, Gallione, Carol, D'Adamo, Pio, Girelli, Domenico
Published in Neurological sciences (01.08.2014)
Published in Neurological sciences (01.08.2014)
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Journal Article
The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2
Berg, Jonathan N., Gallione, Carol J., Stenzel, Timothy T., Johnson, David W., Allen, William P., Schwartz, Charles E., Jackson, Charles E., Porteous, Mary E.M., Marchuk, Douglas A.
Published in American journal of human genetics (01.07.1997)
Published in American journal of human genetics (01.07.1997)
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