Gene Review:
NOTCH3 - notch 3
Homo sapiens
Synonyms:
CADASIL, CASIL, IMF2, Neurogenic locus notch homolog protein 3, Notch 3
Fryxell,
Soderlund,
Jordan,
Joutel,
Favrole,
Labauge,
Chabriat,
Lescoat,
Andreux,
Domenga,
Cécillon,
Vahedi,
Ducros,
Cave-Riant,
Bousser,
Tournier-Lasserve,
Kim,
Kim,
Kim,
No,
Yoo,
Joutel,
Andreux,
Gaulis,
Domenga,
Cecillon,
Battail,
Piga,
Chapon,
Godfrain,
Tournier-Lasserve,
Dichgans,
Herzog,
Gasser,
Lesnik Oberstein,
Jukema,
Van Duinen,
Macfarlane,
van Houwelingen,
Breuning,
Ferrari,
Haan,
Ahearn,
Speer,
Chen,
Steffens,
Cassidy,
Van Meter,
Provenzale,
Weisler,
Krishnan,
van den Boom,
Lesnik Oberstein,
Spilt,
Behloul,
Ferrari,
Haan,
Westendorp,
van Buchem,
Mykkänen,
Savontaus,
Juvonen,
Sistonen,
Tuisku,
Tuominen,
Penttinen,
Lundkvist,
Viitanen,
Kalimo,
Pöyhönen,
- NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. Dichgans, M., Herzog, J., Gasser, T. Neurology (2001)
- Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Lesnik Oberstein, S.A., Jukema, J.W., Van Duinen, S.G., Macfarlane, P.W., van Houwelingen, H.C., Breuning, M.H., Ferrari, M.D., Haan, J. Medicine (Baltimore) (2003)
- Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study. Schwaag, S., Evers, S., Schirmacher, A., Stögbauer, F., Ringelstein, E.B., Kuhlenbäumer, G. Cephalalgia : an international journal of headache. (2006)
- Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. Annunen-Rasila, J., Finnilä, S., Mykkänen, K., Moilanen, J.S., Veijola, J., Pöyhönen, M., Viitanen, M., Kalimo, H., Majamaa, K. Neurogenetics (2006)
- Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Opherk, C., Peters, N., Herzog, J., Luedtke, R., Dichgans, M. Brain (2004)
- Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cécillion, M., Marechal, E., Maciazek, J., Vayssiere, C., Cruaud, C., Cabanis, E.A., Ruchoux, M.M., Weissenbach, J., Bach, J.F., Bousser, M.G., Tournier-Lasserve, E. Nature (1996)
- Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype. Ahearn, E.P., Speer, M.C., Chen, Y.T., Steffens, D.C., Cassidy, F., Van Meter, S., Provenzale, J.M., Weisler, R.H., Krishnan, K.R. Am. J. Med. Genet. (2002)
- CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations. Nakamura, T., Watanabe, H., Hirayama, M., Inukai, A., Kabasawa, H., Matsubara, M., Mitake, S., Nakamura, M., Ando, Y., Uchino, M., Sobue, G. J. Neurol. Sci. (2005)
- Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. Low, W.C., Junna, M., Börjesson-Hanson, A., Morris, C.M., Moss, T.H., Stevens, D.L., St Clair, D., Mizuno, T., Zhang, W.W., Mykkänen, K., Wahlstrom, J., Andersen, O., Kalimo, H., Viitanen, M., Kalaria, R.N. Brain (2007)
- A gene for familial hemiplegic migraine maps to chromosome 19. Joutel, A., Bousser, M.G., Biousse, V., Labauge, P., Chabriat, H., Nibbio, A., Maciazek, J., Meyer, B., Bach, M.A., Weissenbach, J. Nat. Genet. (1993)
- The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. Joutel, A., Andreux, F., Gaulis, S., Domenga, V., Cecillon, M., Battail, N., Piga, N., Chapon, F., Godfrain, C., Tournier-Lasserve, E. J. Clin. Invest. (2000)
- Acetazolamide-responsive migraine in CADASIL. Weller, M., Dichgans, J., Klockgether, T. Neurology (1998)
- Detection of the founder effect in Finnish CADASIL families. Mykkänen, K., Savontaus, M.L., Juvonen, V., Sistonen, P., Tuisku, S., Tuominen, S., Penttinen, M., Lundkvist, J., Viitanen, M., Kalimo, H., Pöyhönen, M. Eur. J. Hum. Genet. (2004)
- Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Tang, S.C., Lee, M.J., Jeng, J.S., Yip, P.K. J. Neurol. Sci. (2005)
- Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Joutel, A., Favrole, P., Labauge, P., Chabriat, H., Lescoat, C., Andreux, F., Domenga, V., Cécillon, M., Vahedi, K., Ducros, A., Cave-Riant, F., Bousser, M.G., Tournier-Lasserve, E. Lancet (2001)
- Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family. de la Peña, P., Bornstein, B., del Hoyo, P., Fernández-Moreno, M.A., Martín, M.A., Campos, Y., Gómez-Escalonilla, C., Molina, J.A., Cabello, A., Arenas, J., Garesse, R. Neurology (2001)
- A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. Oliveri, R.L., Muglia, M., De Stefano, N., Mazzei, R., Labate, A., Conforti, F.L., Patitucci, A., Gabriele, A.L., Tagarelli, G., Magariello, A., Zappia, M., Gambardella, A., Federico, A., Quattrone, A. Arch. Neurol. (2001)
- Notch-mediated CBF-1/RBP-J{kappa}-dependent regulation of human vascular smooth muscle cell phenotype in vitro. Morrow, D., Scheller, A., Birney, Y.A., Sweeney, C., Guha, S., Cummins, P.M., Murphy, R., Walls, D., Redmond, E.M., Cahill, P.A. Am. J. Physiol., Cell Physiol. (2005)
- Notch3 intracellular domain accumulates in HepG2 cell line. Giovannini, C., Lacchini, M., Gramantieri, L., Chieco, P., Bolondi, L. Anticancer Res. (2006)
- Notch 2 and Notch 1/3 segregate to neuronal and glial lineages of the developing olfactory epithelium. Carson, C., Murdoch, B., Roskams, A.J. Dev. Dyn. (2006)
- Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. Santa, Y., Uyama, E., Chui, d.e. .H., Arima, M., Kotorii, S., Takahashi, K., Tabira, T. J. Neurol. Sci. (2003)
- Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL. Kim, Y., Kim, J.S., Kim, G., No, Y.J., Yoo, H.W. Mutat. Res. (2006)
- Cerebral hemodynamics and white matter hyperintensities in CADASIL. van den Boom, R., Lesnik Oberstein, S.A., Spilt, A., Behloul, F., Ferrari, M.D., Haan, J., Westendorp, R.G., van Buchem, M.A. J. Cereb. Blood Flow Metab. (2003)
- Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients. Tuominen, S., Miao, Q., Kurki, T., Tuisku, S., Pöyhönen, M., Kalimo, H., Viitanen, M., Sipilä, H.T., Bergman, J., Rinne, J.O. Stroke (2004)
- Glycohistochemical characterization of vascular muscle cell destruction in CADASIL subjects by lectins, neoglycoconjugates and galectin-specific antibodies. Brulin-Fardoux, P., Godfrain, C., Maurage, C.A., De Reuck, J., Hauw, J.J., Kaltner, H., Bovin, N.V., Gabius, H.J., Ruchoux, M.M., Kiss, R., Camby, I. Neuropathol. Appl. Neurobiol. (2003)
- Notch2 negatively regulates myofibroblastic differentiation of myoblasts. Ono, Y., Sensui, H., Okutsu, S., Nagatomi, R. J. Cell. Physiol. (2007)
- An animal model for the molecular genetics of CADASIL. (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). Fryxell, K.J., Soderlund, M., Jordan, T.V. Stroke (2001)
- Brain stem MRI signal abnormalities in CADASIL. Chabriat, H., Mrissa, R., Levy, C., Vahedi, K., Taillia, H., Iba-Zizen, M.T., Joutel, A., Tournier-Lasserve, E., Bousser, M.G. Stroke (1999)
- EGF-like domain calcium affinity modulated by N-terminal domain linkage in human fibrillin-1. Smallridge, R.S., Whiteman, P., Doering, K., Handford, P.A., Downing, A.K. J. Mol. Biol. (1999)
- Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Joutel, A., Vahedi, K., Corpechot, C., Troesch, A., Chabriat, H., Vayssière, C., Cruaud, C., Maciazek, J., Weissenbach, J., Bousser, M.G., Bach, J.F., Tournier-Lasserve, E. Lancet (1997)
- Retinal abnormalities in CADASIL: a retrospective study of 18 patients. Cumurciuc, R., Massin, P., Pâques, M., Krisovic, V., Gaudric, A., Bousser, M.G., Chabriat, H. J. Neurol. Neurosurg. Psychiatr. (2004)