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Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).
Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA. Sahoo T, et al. Among authors: zabramski jm. Hum Mol Genet. 1999 Nov;8(12):2325-33. doi: 10.1093/hmg/8.12.2325. Hum Mol Genet. 1999. PMID: 10545614
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
Johnson EW, Iyer LM, Rich SS, Orr HT, Gil-Nagel A, Kurth JH, Zabramski JM, Marchuk DA, Weissenbach J, Clericuzio CL, Davis LE, Hart BL, Gusella JF, Kosofsky BE, Louis DN, Morrison LA, Green ED, Weber JL. Johnson EW, et al. Among authors: zabramski jm. Genome Res. 1995 Nov;5(4):368-80. doi: 10.1101/gr.5.4.368. Genome Res. 1995. PMID: 8750196 Free article.
Propranolol as therapy for cerebral cavernous malformations: a cautionary note.
Shenkar R, Moore T, Benavides C, Lightle R, Detter MR, Hobson N, Girard R, DeBiasse D, Patrucco M, Gallione C, Zabramski JM, Marchuk DA, Awad IA. Shenkar R, et al. Among authors: zabramski jm. J Transl Med. 2022 Apr 5;20(1):160. doi: 10.1186/s12967-022-03360-4. J Transl Med. 2022. PMID: 35382850 Free PMC article. No abstract available.
Propranolol inhibits cavernous vascular malformations by β1 adrenergic receptor antagonism in animal models.
Li W, Shenkar R, Detter MR, Moore T, Benavides C, Lightle R, Girard R, Hobson N, Cao Y, Li Y, Griffin E, Gallione C, Zabramski JM, Ginsberg MH, Marchuk DA, Awad IA. Li W, et al. Among authors: zabramski jm. J Clin Invest. 2021 Oct 1;131(19):e154909. doi: 10.1172/JCI154909. J Clin Invest. 2021. PMID: 34596055 Free PMC article. No abstract available.
Intracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation.
Weinsheimer S, Nelson J, Abla AA, Ko NU, Tsang C, Okoye O, Zabramski JM, Akers A, Zafar A, Mabray MC, Hart BL, Morrison L, McCulloch CE, Kim H; Brain Vascular Malformation Consortium Cerebral Cavernous Malformation Investigator Group *. Weinsheimer S, et al. Among authors: zabramski jm. J Am Heart Assoc. 2023 Feb 7;12(3):e027572. doi: 10.1161/JAHA.122.027572. Epub 2023 Jan 25. J Am Heart Assoc. 2023. PMID: 36695309 Free PMC article.
238 results