NOTCH3

Summary

Gene Symbol: NOTCH3
Description: notch 3
Alias: CADASIL, CADASIL1, CASIL, IMF2, LMNS, neurogenic locus notch homolog protein 3, Notch homolog 3
Species: human

Top Publications

  1. ncbi Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nature 383:707-10. 1996
  2. ncbi The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation
    C Larsson
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Genomics 24:253-8. 1994
  3. pmc Notch and MAML-1 complexation do not detectably alter the DNA binding specificity of the transcription factor CSL
    Cristina Del Bianco
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA
    PLoS ONE 5:e15034. 2010
  4. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    E Tournier-Lasserve
    Laboratoire de Pathologie de l Immunité INSERM CJF 90 01, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nat Genet 3:256-9. 1993
  5. ncbi Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    A Joutel
    INSERM U25, Faculté Médecine Necker Enfants Malades, Paris, France
    Lancet 350:1511-5. 1997
  6. pmc The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris 75730, France Laboratoire de Cytogénétique, Hopital Lariboisiere, Paris 75010, France
    J Clin Invest 105:597-605. 2000
  7. ncbi MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors
    L Wu
    Department of Adult Oncology, Dana Farber Cancer Institute and Departments of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 26:484-9. 2000
  8. pmc Combined expression of pTalpha and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis
    Diana Bellavia
    Department of Experimental Medicine and Pathology, University La Sapienza, Viale Regina Elena 324, 00161 Roma, Italy
    Proc Natl Acad Sci U S A 99:3788-93. 2002
  9. ncbi C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke
    J F Arboleda-Velasquez
    Center for Neurological Diseases, Brigham and Women s Hospital Harvard Medical School, Boston, MA, USA
    Neurology 59:277-9. 2002
  10. pmc A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling
    Helena Karlstrom
    Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Von Eulers vag 3, SE 171 77 Stockholm, Sweden
    Proc Natl Acad Sci U S A 99:17119-24. 2002

Research Grants

  1. Role of Proteasome Inhibition in the Pathogenesis of CADASIL
    Michael M Wang; Fiscal Year: 2010
  2. Michael M Wang; Fiscal Year: 2016
  3. Notch3 in generation and maintenance of the T lineage.
    Howard T Petrie; Fiscal Year: 2013
  4. 2012 Notch Signaling in Development, Regeneration &Disease Gordon Conference
    Raphael Kopan; Fiscal Year: 2012
  5. Developmental analysis of SELCT proteins
    ANNE CHURCH HART; Fiscal Year: 2010
  6. Role of Notch3 Signaling in Hypertensive Arteriopathy
    MATTHEW POLLMAN; Fiscal Year: 2004
  7. Notch3 Signaling as a Determinant of Vascular Cell Fate
    Gary Gibbons; Fiscal Year: 2005
  8. Aging Brain: DTI, Subcortical Ischemia and Behavioral
    Stephen Salloway; Fiscal Year: 2006
  9. LRP regulation of wildtype and CADASIL mutants of Notch3
    Michael M Wang; Fiscal Year: 2013
  10. Understanding cell biology of Delta-Notch interactions
    GERALDINE WEINMASTER; Fiscal Year: 2006

Detail Information

Publications195 found, 100 shown here

  1. ncbi Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nature 383:707-10. 1996
    ..b>CADASIL (for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) causes a type of ..
  2. ncbi The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation
    C Larsson
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Genomics 24:253-8. 1994
    ..2-p13.1, respectively, which are regions of neoplasia-associated translocation...
  3. pmc Notch and MAML-1 complexation do not detectably alter the DNA binding specificity of the transcription factor CSL
    Cristina Del Bianco
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA
    PLoS ONE 5:e15034. 2010
    ....
  4. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    E Tournier-Lasserve
    Laboratoire de Pathologie de l Immunité INSERM CJF 90 01, Faculte de Medecine Necker Enfants Malades, Paris, France
    Nat Genet 3:256-9. 1993
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has been recently reported as a cause of stroke...
  5. ncbi Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    A Joutel
    INSERM U25, Faculté Médecine Necker Enfants Malades, Paris, France
    Lancet 350:1511-5. 1997
    b>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is commonly overlooked or misdiagnosed owing to its recent identification and its variable mode of presentation...
  6. pmc The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris 75730, France Laboratoire de Cytogénétique, Hopital Lariboisiere, Paris 75010, France
    J Clin Invest 105:597-605. 2000
    Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans...
  7. ncbi MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors
    L Wu
    Department of Adult Oncology, Dana Farber Cancer Institute and Departments of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 26:484-9. 2000
    ..These studies provide a molecular mechanism to explain the genetic links between mastermind and Notch in Drosophila and indicate that MAML1 functions as a transcriptional co-activator for NOTCH signalling...
  8. pmc Combined expression of pTalpha and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis
    Diana Bellavia
    Department of Experimental Medicine and Pathology, University La Sapienza, Viale Regina Elena 324, 00161 Roma, Italy
    Proc Natl Acad Sci U S A 99:3788-93. 2002
    ..Recently, we showed that transgenic mice expressing the constitutively active intracellular domain of Notch3 in thymocytes and T cells developed early and aggressive T cell neoplasias...
  9. ncbi C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke
    J F Arboleda-Velasquez
    Center for Neurological Diseases, Brigham and Women s Hospital Harvard Medical School, Boston, MA, USA
    Neurology 59:277-9. 2002
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor-like repeats...
  10. pmc A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling
    Helena Karlstrom
    Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Von Eulers vag 3, SE 171 77 Stockholm, Sweden
    Proc Natl Acad Sci U S A 99:17119-24. 2002
    ..dementia disease Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)...
  11. pmc Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway
    Anne Joutel
    Institut National de la Sante et de la Recherche Medicale, INSERM E365, Faculté de Médecine Lariboisiere, and Laboratoire de Cytogénétique, Hopital Lariboisiere, Paris, France
    Am J Hum Genet 74:338-47. 2004
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited vascular dementia characterized by the degeneration of smooth-muscle cells in small cerebral arteries...
  12. ncbi Detection of the founder effect in Finnish CADASIL families
    Kati Mykkänen
    Department of Medical Genetics, University of Turku, Kiinamyllynkatu 10, FIN 20520 Turku, Finland
    Eur J Hum Genet 12:813-9. 2004
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease characterized by brain infarcts, cognitive decline and dementia...
  13. ncbi Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Sung Chun Tang
    Stroke Center, National Taiwan University Hospital, Taipei, Taiwan
    J Neurol Sci 228:125-8. 2005
    ..and genotype of cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy (CADASIL) in Caucasians have been well characterized, but CADASIL is less recognized in Asian populations...
  14. ncbi Notch-mediated CBF-1/RBP-J{kappa}-dependent regulation of human vascular smooth muscle cell phenotype in vitro
    David Morrow
    Vascular Health Research Centre, Faculty of Science and Health, Dublin City University, Dublin 9, Ireland
    Am J Physiol Cell Physiol 289:C1188-96. 2005
    ....
  15. ncbi Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies
    Nils Peters
    Department of Neurology, Neurogenetics Laboratory, Klinikum Grosshadern, Ludwig Maximilians University, Munich, Germany
    Arch Neurol 62:1091-4. 2005
    ..gene are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is an important cause of stroke in young adults...
  16. ncbi Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation
    Y Kim
    Department of Biochemistry, School of Medicine, Wonkwang University, Iksan, Chonbuk, Korea
    Neurology 66:1511-6. 2006
    To elucidate the phenotype, genotype, and MRI findings of Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mutation carriers.
  17. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    D Guidetti
    Divisione di Neurologia, Azienda Ospedaliera Santa Maria Nuova, Reggio Emilia, Italy
    Clin Exp Hypertens 28:271-7. 2006
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by migrane, recurrent stroke, subcortical dementia, and pseudobulbar palsy...
  18. pmc Conserved signal peptide of Notch3 inhibits interaction with proteasome
    Yanmei Zhang
    Department of Neurology, University of Michigan, Ann Arbor, MI 48109 0622, USA
    Biochem Biophys Res Commun 355:245-51. 2007
    The Notch3 N-terminal sequence is conserved across several mammalian species but diverges from the three other Notch proteins. We determined the significance of the N-terminal sequence using deletion mutants...
  19. ncbi The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo
    Marie Monet
    INSERM U740, Paris F 75010, France
    Hum Mol Genet 16:982-92. 2007
    Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL) is the most prominent known cause of inherited stroke and vascular dementia in human adult...
  20. ncbi Aberrant Notch3 and Notch4 expression in human hepatocellular carcinoma
    Laura Gramantieri
    Center for Applied Biomedical Research CRBA, University of Bologna and St Orsola Malpighi University Hospital, Bologna, Italy
    Liver Int 27:997-1007. 2007
    ..Notch signalling is altered in several solid tumours and it plays a role in growth inhibition and apoptosis of hepatocellular carcinoma (HCC)-derived cell lines, bile duct development and hepatocyte regeneration...
  21. ncbi Gamma-secretase inhibitor prevents Notch3 activation and reduces proliferation in human lung cancers
    Jun Konishi
    Division of Hematology and Medical Oncology and Department of Pathology, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Cancer Res 67:8051-7. 2007
    ..has been shown to promote and maintain survival of many types of cancers, and we previously have shown that Notch3 plays an important role in lung cancer...
  22. ncbi Deregulated expression of Notch receptors in human hepatocellular carcinoma
    J Gao
    Department of Digestive Diseases, Wuhan General Hospital, Guangzhou Command PLA, Wuhan, Hubei Province, PR China
    Dig Liver Dis 40:114-21. 2008
    ..To address this, the expression of Notch receptors in human hepatocellular carcinoma was examined in both protein and ribonucleic acid levels...
  23. ncbi A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient
    Francesca Pescini
    Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy
    J Neurol Sci 267:170-3. 2008
    b>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an inherited small vessel disease causing migraine, early strokes, cognitive impairment and premature death...
  24. doi NOTCH3 signaling pathway plays crucial roles in the proliferation of ErbB2-negative human breast cancer cells
    Noritaka Yamaguchi
    Consolidated Research Institute for Advanced Science and Medical Care, Waseda University, Japan
    Cancer Res 68:1881-8. 2008
    ..Activated NOTCH1 and NOTCH3 proteins generated by gamma-secretase were detected in most of the cell lines tested, and both proteins activated ..
  25. doi Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells
    Shaobo Jin
    Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Stockholm, Sweden
    Circ Res 102:1483-91. 2008
    ..critically important for proper architecture of the vascular system, and mutations in NOTCH3 are associated with CADASIL, a stroke and dementia syndrome with vascular smooth muscle cell (VSMC) dysfunction...
  26. pmc Jagged-1 and Notch3 juxtacrine loop regulates ovarian tumor growth and adhesion
    Jung Hye Choi
    Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD 21231, USA
    Cancer Res 68:5716-23. 2008
    b>Notch3 gene amplification and pathway activation have been reported in ovarian serous carcinoma. However, the primary Notch3 ligand that initiates signal transduction in ovarian cancer remains unclear...
  27. ncbi Cysteine-sparing notch3 mutations: cadasil or cadasil variants?
    R Scheid
    Day Clinic of Cognitive Neurology, University of Leipzig, Liebigstr 22a, 04103 Leipzig, Germany
    Neurology 71:774-6. 2008
  28. pmc Identification of Pbx1, a potential oncogene, as a Notch3 target gene in ovarian cancer
    Joon T Park
    Department of Pathology, Pathobiology Graduate Program, Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
    Cancer Res 68:8852-60. 2008
    b>Notch3 gene amplification has recently been identified in ovarian cancer but the Notch3 effectors that are involved in the development of ovarian cancer remain elusive...
  29. pmc NOTCH3 expression is induced in mural cells through an autoregulatory loop that requires endothelial-expressed JAGGED1
    Hua Liu
    Vascular Biology Center and Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta, GA 30912, USA
    Circ Res 104:466-75. 2009
    ..In doing so, we discovered that NOTCH3 is one gene whose expression is robustly induced in mural cells by coculturing with endothelial cells...
  30. pmc Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
    Saara Tikka
    Protein Chemistry Unit, Institute of Biomedicine Anatomy, University of Helsinki, Finland
    Brain 132:933-9. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary subcortical vascular dementia...
  31. doi Cross-talk between tumor and endothelial cells involving the Notch3-Dll4 interaction marks escape from tumor dormancy
    Stefano Indraccolo
    Istituto Oncologico Veneto IRCCS, Padua, Italy
    Cancer Res 69:1314-23. 2009
    ..cancer cells from dormancy is associated with Dll4 expression in the tumor microenvironment and increased Notch3 signaling in tumor cells...
  32. pmc Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain
    Marie Monet-Leprêtre
    INSERM U740, Faculté de Médecine Paris 7, Site Villemin, 10 Avenue de Verdun, Paris, France
    Brain 132:1601-12. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease of the brain caused by mutations in the NOTCH3 receptor...
  33. doi CADASIL mutations enhance spontaneous multimerization of NOTCH3
    Christian Opherk
    Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Hum Mol Genet 18:2761-7. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cause of stroke and vascular dementia...
  34. pmc Lysosome-dependent degradation of Notch3
    Lijun Jia
    Departments of Neurology and Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109 0622, USA
    Int J Biochem Cell Biol 41:2594-8. 2009
    ..and dementia disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  35. doi Inhibition of Notch3 enhances sensitivity to gemcitabine in pancreatic cancer through an inactivation of PI3K/Akt-dependent pathway
    Jun Yao
    School of Medicine, Taizhou University, Jiaojiang District, 318000, Taizhou, Zhejiang, China
    Med Oncol 27:1017-22. 2010
    b>Notch3 is one of the four Notch receptors identified in mammal, but its role in human pancreatic cancer remains poorly characterized...
  36. doi Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation
    Keikichi Takahashi
    Department of Vascular Dementia Research, National Institute for Longevity Science, National Center for Geriatrics and Gerontology, Obu City, Aichi, Japan
    Hum Mol Genet 19:79-89. 2010
    ..NOTCH3 gene cause cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), but the pathogenic mechanisms of the disorder remain unclear...
  37. pmc Notch3 cooperates with the EGFR pathway to modulate apoptosis through the induction of bim
    J Konishi
    Division of Hematology and Medical Oncology, Vanderbilt University Medical Center, Nashville, TN, USA
    Oncogene 29:589-96. 2010
    ..We previously demonstrated a role for Notch3 in lung cancer pathogenesis. Notch3 inhibition resulted in tumor apoptosis and growth suppression...
  38. doi Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals
    Poneh Adib-Samii
    Clinical Neurosciences, St George s University of London, London, England
    Stroke 41:630-4. 2010
    Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited arteriopathy with clinical features that include recurrent lacunar stroke, migraine, and cognitive impairment...
  39. doi Expression of nuclear Notch3 in cervical squamous cell carcinomas and its association with adverse clinical outcomes
    Shamima Yeasmin
    Department of Obstetrics and Gynecology, Shimane University School of Medicine, Shimane, 6938501, Japan
    Gynecol Oncol 117:409-16. 2010
    The aim of this study was to clarify the functional role of Notch3 in human cervical carcinomas.
  40. pmc Low density lipoprotein receptor-related protein-1 (LRP1) regulates thrombospondin-2 (TSP2) enhancement of Notch3 signaling
    He Meng
    Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109 5622, USA
    J Biol Chem 285:23047-55. 2010
    ..The extracellular protein thrombospondin-2 (TSP2) enhances Notch signaling and binds to both Jagged1 and Notch3 ectodomains, potentially bridging two essential extracellular components of Notch signaling...
  41. doi Evidence of the cross talk between Wnt and Notch signaling pathways in non-small-cell lung cancer (NSCLC): Notch3-siRNA weakens the effect of LiCl on the cell cycle of NSCLC cell lines
    Chunyan Li
    Center of Laboratory Technology and Experimental Medicine, China Medical University, 110001, Shenyang, People s Republic of China
    J Cancer Res Clin Oncol 137:771-8. 2011
    ..However, the data about the cross talk between the two signaling pathways are still limited. To elucidate potential Wnt/Notch cross talk within NSCLC, we examined the impact of Notch3 activity on LiCl-induced cell cycle changes.
  42. doi Prognostic significance of Notch 3 gene expression in ovarian serous carcinoma
    Sang G Jung
    Department of Gynecological Oncology, CHA Bundang Medical Center, CHA University, Gyeonggi Do, Korea
    Cancer Sci 101:1977-83. 2010
    ..In this study, we detected high levels of Notch3 mRNA and protein expression especially in serous ovarian carcinomas compared to their benign counterparts, ..
  43. pmc Notch3 in human breast cancer cell lines regulates osteoblast-cancer cell interactions and osteolytic bone metastasis
    Zhiyuan Zhang
    Department Orthopaedic Surgery, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Pathol 177:1459-69. 2010
    ..Human bone marrow osteoblasts selectively enhanced the expression of Notch3 and its ligand Jagged1 in human breast cancer cell lines...
  44. pmc Notch3 overexpression is related to the recurrence of ovarian cancer and confers resistance to carboplatin
    Joon Tae Park
    Departments of Pathology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
    Am J Pathol 177:1087-94. 2010
    Amplification of the Notch3 locus has been detected in ovarian high-grade serous carcinoma (HGSC), the most common and malignant type of ovarian cancer...
  45. pmc Aldehyde dehydrogenase activity selects for lung adenocarcinoma stem cells dependent on notch signaling
    James P Sullivan
    Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Cancer Res 70:9937-48. 2010
    ..of the Notch pathway by treatment with either a γ-secretase inhibitor or stable expression of shRNA against NOTCH3 resulted in a significant decrease in ALDH(+) lung cancer cells, commensurate with a reduction in tumor cell ..
  46. doi Modulation of microRNA expression in human T-cell development: targeting of NOTCH3 by miR-150
    Margherita Ghisi
    Department of Oncology and Surgical Sciences, University of Padova, Padova, Italy
    Blood 117:7053-62. 2011
    ..We showed that miR-150 targets NOTCH3, a member of the Notch receptor family that plays important roles both in T-cell differentiation and ..
  47. doi Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis
    Marco Duering
    Institute for Stroke and Dementia Research, Ludwig Maximilians University, 81377 Munich, Germany
    Hum Mol Genet 20:3256-65. 2011
    b>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common monogenic cause of stroke and vascular dementia...
  48. pmc Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease
    Helena Schmidt
    Institute of Molecular Biology and Biochemistry, Centre for Molecular Medicine, Medical University of Graz, Graz, Austria
    Brain 134:3384-97. 2011
    ..autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, which is caused by mutations in NOTCH3. We hypothesized that genetic variations in NOTCH3 also play a role in age-related cerebral small vessel disease...
  49. pmc Inhibition of Notch3 signalling induces rhabdomyosarcoma cell differentiation promoting p38 phosphorylation and p21(Cip1) expression and hampers tumour cell growth in vitro and in vivo
    L Raimondi
    Department of Oncohematology, Ospedale Pediatrico Bambino Gesu, IRCCS, Roma, Italy
    Cell Death Differ 19:871-81. 2012
    ..In agreement with data in RMS primary tumours, we show here that the Notch3 receptor is overexpressed in RMS cell lines versus normal myoblasts...
  50. doi CDKN1C/P57 is regulated by the Notch target gene Hes1 and induces senescence in human hepatocellular carcinoma
    Catia Giovannini
    Center for Applied Biomedical Research, S Orsola Malpighi University Hospital, Bologna, Italy
    Am J Pathol 181:413-22. 2012
    ..In this study, we show that the down-regulation of Notch1 and Notch3 in two HCC cell lines resulted in Hes1 down-regulation, CDKN1C/P57 up-regulation, and reduced cell growth...
  51. pmc Notch3 and HEY-1 as prognostic biomarkers in pancreatic adenocarcinoma
    Christopher D Mann
    Department of Cancer Studies and Molecular Medicine, University of Leicester, Leicester, Leicestershire, United Kingdom
    PLoS ONE 7:e51119. 2012
    ..Having previously reported that Notch3 activation appeared to be associated with more aggressive disease, we have now examined components of this pathway ..
  52. ncbi Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
    A Joutel
    INSERM U25, Faculte de Medecine Necker Enfants Malades, Paris, France
    Neurology 54:1874-5. 2000
  53. ncbi Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Alessandra Rufa
    Neurology and Neurometabolic Disease Unit, Center for the Diagnosis, Prevention, and Therapy of Neurological Handicap, Department of Behavioral and Neurological Sciences, University of Siena Medical School, Siena, Italy
    Arch Neurol 61:577-80. 2004
    Although cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is considered a cerebrovascular disorder with almost exclusively neurological symptoms, the arteriopathy is generalized and ..
  54. ncbi Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway
    Tao Wang
    Medical Genetics Research Group and Centre for Molecular Medicine, Faculty of Medicine and Human Sciences, The University of Manchester, United Kingdom
    Cell Signal 19:2458-67. 2007
    b>Notch3 is one of the four Notch receptors identified in mammal and expressed mainly in the arterial smooth muscle cells of human adult...
  55. ncbi An overview of Notch3 function in vascular smooth muscle cells
    Tao Wang
    Medical Genetics Research Group and Centre for Molecular Medicine, School of Clinical and Laboratory Sciences, Faculty of Medicine and Human Sciences, The University of Manchester, UK
    Prog Biophys Mol Biol 96:499-509. 2008
    ..dominant condition, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoecephelopathy (CADASIL), an inherited early stroke syndrome leading to dementia due to systemic vascular degeneration...
  56. ncbi Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study
    S Schwaag
    Department of Neurology, University of Munster, Munster, Germany
    Cephalalgia 26:158-61. 2006
    ..the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exons 3 and 4 are mutation hotspots. Migraine is a clinical hallmark of CADASIL...
  57. ncbi Investigating the association between Notch3 polymorphism and migraine
    Barbara Borroni
    Neurologic Clinic, Department of Neurology, University of Brescia, Italy
    Headache 46:317-21. 2006
    ..was to evaluate whether the functional Notch3 polymorphism T6746C, which is not causative for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), might be a risk factor for migraine.
  58. ncbi [Analysis of complex segregation in a large family with hereditary cerebrovascular disease in Antioquia, Colombia]
    F Lopera
    Universidad de Antioquia, Programa de Neurociencias, Colombia
    Rev Neurol 32:222-5. 2001
    ..Among different kinds of cerebrovascular diseases, few of them are caused by genetic disturbances, such as CADASIL (caused by Notch3 mutations), CARASIL, mitochondrial encephalopathy, MELAS and dementia typed Binswanger...
  59. ncbi [Coma associated with migraine]
    I Requena
    Departamento de Medicina, Complejo Hospitalario Universitario de Santiago de Compostela,
    Rev Neurol 29:1048-51. 1999
    ..migraine, the association of migraine and coma may also be seen in patients with familial hemiplegic migraine and CADASIL and MELAS syndromes...
  60. ncbi Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL
    W C Low
    Institute for Ageing and Health and Department of Neuropathology, Newcastle General Hospital, Newcastle upon Tyne, UK
    Brain 130:357-67. 2007
    ..been suggested to be cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) but their genetic identities remain unknown...
  61. ncbi Small cerebral vessel disease in familial amyloid and non-amyloid angiopathies: FAD-PS-1 (P117L) mutation and CADASIL. Immunohistochemical and ultrastructural studies
    Grazyna M Szpak
    Department of Neuropathology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warsaw, Poland
    Folia Neuropathol 45:192-204. 2007
    ..with cerebral amyloid angiopathy (CAA), were confirmed by genetic and neuropathological studies, and one case of CADASIL was ultrastructurally confirmed by the presence of vascular granular osmiophilic material...
  62. doi Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL
    Martin Dichgans
    Department of Neurology, Grosshadern Clinic, Ludwig Maximilian University, Munich, Germany
    Lancet Neurol 7:310-8. 2008
    ..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic form of subcortical ischaemic vascular dementia...
  63. ncbi [CADASIL]
    Makoto Uchino
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1 1 1 Honjo, Kumamoto 8608556, Japan
    Brain Nerve 60:1224-34. 2008
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant vascular encephalopathy that has been mainly reported in Europe and the United States...
  64. pmc Diagnostic criteria for CADASIL in the International Classification of Headache Disorders (ICHD-II): are they appropriate?
    Simona Sacco
    Department of Neurology, University of L Aquila, Piazzale Salvatore Tommasi 1, 67100 L Aquila, Italy
    J Headache Pain 11:181-6. 2010
    ..in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to verify the appropriateness of the International Classification of Headache Disorders, second edition (ICHD-..
  65. ncbi Clinical Features of CADASIL
    Koji Abe
    Department of Neurology, Okayama University Graduate School of Medicine and Dentistry, 2 5 1 Shikata cho, Okayama 700 8558, Japan
    Ann N Y Acad Sci 977:266-72. 2002
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disease characterized by recurrent transient ischemic attacks, strokes, and vascular dementia...
  66. ncbi Clinical severity in CADASIL related to ultrastructural damage in white matter: in vivo study with diffusion tensor MRI
    H Chabriat
    Department of Neurology, CHU Lariboisière, Universite Paris VII, France
    Stroke 30:2637-43. 1999
    b>CADASIL is a newly recognized cause of subcortical ischemic strokes that progressively leads to dementia associated with pseudobulbar palsy and severe motor disability...
  67. ncbi The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia
    Nils Peters
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University, Marchioninistrasse 15, D 81377 Munich, Germany
    Am J Psychiatry 162:2078-85. 2005
    ..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic variant of small vessel disease resulting from mutations in NOTCH3...
  68. doi Acute confusional migraine may be a presenting feature of CADASIL
    Swati Sathe
    Division of Neurogenetics, Department of Neurology, NYU School of Medicine, New York, NY 10016, USA
    Headache 49:590-6. 2009
    ..the phenomenon of acute confusional migraine (ACM) among Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients and emphasize the possibility of CADASIL in adults with ACM.
  69. ncbi Electron microscopy analysis of skin biopsies in CADASIL disease
    Carmen Elena Cotrutz
    Department of Cell and Molecular Biology, Faculty of Medicine, Grigore T Popa University of Medicine and Pharmacy, Iassy, Romania
    Rom J Morphol Embryol 51:455-7. 2010
    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited vascular disorder, non-amyloid and non-atherosclerotic, affecting predominantly the central nervous system...
  70. ncbi A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region
    A Joutel
    INSERM U25, Paris, France
    Genomics 38:192-8. 1996
    b>CADASIL, a recently identified autosomal dominant condition characterized by the recurrence of subcortical infarcts leading to dementia, was previously mapped to chromosome 19p13.1 within a 2-cM interval, D19S226-D19S199...
  71. ncbi Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking
    H Chabriat
    Department of Neurology, CHU Lariboisière, Universite Paris VII, France
    Stroke 31:1904-12. 2000
    ..White matter lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are underlaid by severe ultrastructural changes of the arteriolar wall...
  72. ncbi Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    Alessandra Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Viale Bracci, 53100 Siena, Italy
    Stroke 38:276-80. 2007
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited systemic microangiopathy with prevalently cerebral manifestations...
  73. ncbi Magnetic resonance findings in leucodystrophies and MS
    P Labauge
    Department of Neurology, CHU Montpellier Nimes, 30 029 Nimes Cedex, France
    Int MS J 16:47-56. 2009
    ..mutations, defined as cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)...
  74. ncbi Phenotypic variability of CADASIL and novel morphologic findings
    A Rubio
    Department of Pathology, University of Rochester Medical Center, NY 14642, USA
    Acta Neuropathol 94:247-54. 1997
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a non-arterio-atherosclerotic, non-amyloidotic arteriopathy affecting preferentially the small arteries and arterioles of the brain...
  75. ncbi [Cadasil: a case with molecular diagnosis]
    Maria C Zurru
    Servicio de Neurologia, Instituto de Oncologia Angel H Roffo, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina
    Medicina (B Aires) 62:48-52. 2002
    b>CADASIL disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve...
  76. ncbi Small artery dementia in Japan: radiological differences between CADASIL, leukoaraiosis and Binswanger's disease
    Hidekazu Tomimoto
    Department of Neurology, Graduate School of Medicine, Kyoto University, Sakyo, Japan
    Dement Geriatr Cogn Disord 21:162-9. 2006
    b>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary small artery disease which is phenotypically similar to Binswanger's disease (BD), a nonhereditary form of small artery ..
  77. doi Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    A Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Italy
    J Neurol Sci 271:211-3. 2008
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary form of small vessel disease in which the pons may show lacunar infarcts and leukoaraiosis...
  78. doi Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients
    Patrizia Formichi
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Cell Physiol 219:494-502. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease affecting vascular smooth muscle cells of nearly all tissues...
  79. pmc Neuropathological correlates of temporal pole white matter hyperintensities in CADASIL
    Yumi Yamamoto
    Institute for Ageing and Health, WRc, Campus for Ageing and Vitality, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, United Kingdom
    Stroke 40:2004-11. 2009
    ..to be diagnostic for cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with 90% sensitivity and 100% specificity...
  80. ncbi Skin biopsy value and leukoaraiosis
    M M Ruchoux
    Laboratoire de Neuropathologie, Hopital Roger Salengro, EA 2691 MENRT, University of Lille, France
    Ann N Y Acad Sci 903:285-92. 2000
    In the field of leukoaraiosis, the identification of CADASIL and its link to Notch 3 mutation has shed light on the pathogenesis of white matter (WM) abnormalities related to small-vessel disease...
  81. ncbi Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison
    D P Auer
    Max Planck Institut fur Psychiatrie, Kraepelinstrasse 10, 80804 Munich, Germany
    Radiology 218:443-51. 2001
    To differentiate lesion patterns in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) from those in patients with sporadic subcortical arteriosclerotic encephalopathy (sSAE).
  82. ncbi MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL
    M O'SULLIVAN
    Department of Clinical Neuroscience, St George s Hospital Medical School, London, UK
    Neurology 56:628-34. 2001
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited, autosomal dominant condition caused by mutations of the Notch3 gene...
  83. ncbi Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study
    Susanna Roine
    Department of Neurology, University and University Hospital of Turku, Turku, Finland
    Ophthalmology 113:1411-7. 2006
    ..and their clinical significance in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a disease that causes migraine, recurrent strokes, and finally subcortical vascular dementia.
  84. doi CSF levels of beta-amyloid 1-42, tau and phosphorylated tau protein in CADASIL
    P Formichi
    Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy
    Eur J Neurol 15:1252-5. 2008
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be considered a useful model of pure subcortical vascular dementia (SVD) because it occurs in young adults, unlikely to have ..
  85. ncbi Capillary vessel wall in CADASIL angiopathy
    Eliza Lewandowska
    Department of Neuropathology, Institute of Psychiatry and Neurology, Sobieskiego Str 9, 02 957 Warsaw, Poland
    Folia Neuropathol 48:104-15. 2010
    ..was aimed at investigating the morphology of capillaries in four skin and muscle biopsy specimens obtained from CADASIL patients...
  86. doi Genetically confirmed CADASIL in a pediatric patient
    Catalina Cleves
    Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, USA
    Pediatrics 126:e1603-7. 2010
    ..Evaluation revealed white matter changes consistent with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), and genetic testing ..
  87. ncbi The natural history of CADASIL: a pooled analysis of previously published cases
    D W Desmond
    Departments of Neurology, Radiology and Pathology, Columbia University, College of Physicians and Surgeons, New York, NY, USA
    Stroke 30:1230-3. 1999
    ..families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported, our understanding of the disease remains incomplete...
  88. ncbi Vasculopathic changes of CADASIL can be focal in skin biopsies
    A Schultz
    Department of Pathology, Emory University School of Medicine, Atlanta, Georgia, USA
    Ultrastruct Pathol 23:241-7. 1999
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a newly described cause of vascular dementia...
  89. doi Retinal arterial abnormalities correlate with brain white matter lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
    Yang Liu
    Department of Neurology, Peking University First Hospital, Beijing, China
    Clin Experiment Ophthalmol 36:532-6. 2008
    ..to determine the relationship between retinal abnormalities and brain white matter hyper-intensities (WMH) in symptomatic patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
  90. ncbi Non-CAA angiopathies and their possible interactions with cerebral amyloid angiopathy
    H V Vinter
    Department of Pathology, UCLA Medical Center, Los Angeles, CA 90095 1732, USA
    Amyloid 8:2-9. 2001
    ..These and other less frequently encountered degeneralions of the cerebral microvasculature (CADASIL, Binswanger subcortical leukoencephalopathy) share the common feature of degeneration of the medial smooth muscle ..
  91. ncbi Histopathological abnormalities in ocular blood vessels of CADASIL patients
    Christos Haritoglou
    Department of Ophthalmology, Ludwig Maximilians University, Munich, Germany
    Am J Ophthalmol 138:302-5. 2004
    To assess histopathological findings in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
  92. ncbi Characteristic features of in vivo skin microvascular reactivity in CADASIL
    Claire Gobron
    Department of Neurology, CHU Lariboisière, Assistance Publique des Hopitaux de Paris, Paris, France
    J Cereb Blood Flow Metab 27:250-7. 2007
    b>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is caused by mutations in the Notch3 receptor expressed at the surface of vascular smooth muscle cells...
  93. ncbi Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    C Konialis
    Diagnostic Genetic Center, Athens, Greece
    Prenat Diagn 27:1079-83. 2007
    Presentation of a novel case, involving the design and implementation of preimplantation genetic diagnosis (PGD) for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
  94. ncbi Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
    Takashi Oide
    Department of Laboratory Medicine, Musashi Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan
    Neuropathology 28:132-42. 2008
    ..an autopsy case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Intensity of arterial sclerotic changes of CARASIL was evaluated by sclerotic index analysis...
  95. doi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male
    Jakob Granild-Jensen
    Department of Paediatrics, Aarhus University Hospital, Skejby, Denmark
    Dev Med Child Neurol 51:754-7. 2009
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the Notch3 gene on chromosome 19...
  96. ncbi Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    J M Schroder
    Institute of Neuropathology, Medical Faculty, Technical University Aachen, Germany
    Acta Neuropathol 89:116-21. 1995
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy' (CADASIL) has recently been identified as a hereditary disorder with characteristic fine structural changes of small intracerebral arteries and ..
  97. ncbi Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL
    C Hagel
    Institute of Neuropathology, Universitatsklinikum Hamburg Eppendorf, Martinistr 52, 20246 Hamburg, Germany
    Acta Neuropathol 108:231-40. 2004
    ..In contrast to the vasculopathy designated with the acronym CADASIL, no deposits of granular osmiophilic material were detected in the vasculature and no point mutations in the ..
  98. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephaloapthy (CADASIL): a hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy
    Akira Ishiko
    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
    Am J Dermatopathol 27:131-4. 2005
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease characterized by recurrent subcortical ischemic strokes starting in the third or fourth decade ..
  99. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: an imaging mimic of multiple sclerosis. A report of two cases
    Tarun Pandey
    Department of Clinical Radiology, Al Razi, Kuwait
    Med Princ Pract 15:391-5. 2006
    To describe the imaging findings of two cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mimicking multiple sclerosis.
  100. ncbi [The CADASIL syndrome: a model of subcortical-cortical disconnection]
    R Blanco Menéndez
    Unidad de Neuropsicología, Hospital Central de Asturias, Oviedo, 33006, Spain
    Rev Neurol 32:750-4. 2001
    b>CADASIL syndrome (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarts and Leukoencephalopathy) includes some neurological signs and symptoms (gait disturbances, epileptic seizures, pseudobulbar palsy, migraines, etc...
  101. ncbi Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: clinical, radiological and skin biopsy features
    E Wilder-Smith
    Division of Neurology, National University of Singapore, Singapore
    J Clin Neurosci 11:304-7. 2004
    ..Chinese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...

Research Grants47

  1. Role of Proteasome Inhibition in the Pathogenesis of CADASIL
    Michael M Wang; Fiscal Year: 2010
    ..In large part, the genetics of these disorders is complex. However, in families with CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), premature stroke ..
  2. Michael M Wang; Fiscal Year: 2016
    ..human disorder Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a hereditary stroke/dementia disorder caused by mutations in Notch3...
  3. Notch3 in generation and maintenance of the T lineage.
    Howard T Petrie; Fiscal Year: 2013
    ..This phenotype is consistent with a human disease (CADASIL) associated with N3 deficiency (a heritable mutation), which is characterized by age-related (adult-onset) ..
  4. 2012 Notch Signaling in Development, Regeneration &Disease Gordon Conference
    Raphael Kopan; Fiscal Year: 2012
    ..developmental syndromes (Alagille, Spondylocostal Dysostosis, aortic valve disease), adult onset diseases (CADASIL, various heart and valve malformations, muscular dystrophy, multiple sclerosis) and cause or contribute to cancer ..
  5. Developmental analysis of SELCT proteins
    ANNE CHURCH HART; Fiscal Year: 2010
    ..Deltas has been implicated in spondylocostal dysostosis. Mutations in NotchS and Jaggedl cause CADASIL and Alagille syndromes, respectively...
  6. Role of Notch3 Signaling in Hypertensive Arteriopathy
    MATTHEW POLLMAN; Fiscal Year: 2004
    ..Within the spectrum of identified arteriopathies, CADASIL is a heritable syndrome of systemic small vessel disease predisposing to stroke and vascular dementia...
  7. Notch3 Signaling as a Determinant of Vascular Cell Fate
    Gary Gibbons; Fiscal Year: 2005
    ..arteriopathies, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), is a heritable syndrome of systemic small vessel disease predisposing to stroke and vascular dementia...
  8. Aging Brain: DTI, Subcortical Ischemia and Behavioral
    Stephen Salloway; Fiscal Year: 2006
    ..and determine their association with cognition and behavior, j We will recruit a subgroup of subjects with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy) - a relatively ..
  9. LRP regulation of wildtype and CADASIL mutants of Notch3
    Michael M Wang; Fiscal Year: 2013
    ..by applicant): Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a stroke disorder caused by mutations in Notch3...
  10. Understanding cell biology of Delta-Notch interactions
    GERALDINE WEINMASTER; Fiscal Year: 2006
    ..Given that the Notch extracellular domain accumulates in brains of CADASIL patients, understanding the fate of NECD is relevant to this inherited vascular dementia...
  11. Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
    Joanna C Jen; Fiscal Year: 2010
    ..distinct from cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL;OMIM125310)...
  12. Cerebral Amyloid Angiopathy and Related Cerebral Microvasculopathies
    Harry Vinters; Fiscal Year: 2009
    ..from related fields such as the non-amyloid cerebral microangiopathies (including cerebroretinal vasculopathies, CADASIL) and amyloid immunotherapy, including individuals with expertise in biomarkers...
  13. Development of RNAi as Treatment for Neurodegeneration
    KENNETH KOSIK; Fiscal Year: 2005
    ..have been characterized with genetic forms of Alzheimer's disease, Huntington's disease, Parkinson's disease, and CADASIL. Through a variety of collaborations and the persistence of Colombian scientists over many years in the face of ..
  14. Molecular Mechanisms of Segmentation
    Cordelia Rauskolb; Fiscal Year: 2005
    ..and mutations in human Notch pathway genes have been implicated in leukemia (TAN-1), stroke and dementia (CADASIL), and Alagille syndrome, a childhood syndrome resulting in chronic liver disease and segmentation defects...
  15. Transcriptional Regulation of Enhancer of Split Genes
    DEBORAH EASTMAN; Fiscal Year: 2003
    ..Alterations of genes in the Notch pathway lead to a number of human diseases including tumor production, CADASIL, Allagilles syndrome, and Alzheimer's Disease...
  16. NOTCH SIGNALING IN MAMMALIAN CELLS
    GERALDINE WEINMASTER; Fiscal Year: 2002
    ..state during normal development, and Notch is also involved in human disorders of stroke and dementia (CADASIL and Alzheimer's disease), suggesting a role outside of development as well...
  17. Role of HES/HEY family of proteins in mammalian spermatogenesis
    MARIE CLAUDE CATHERINE HOFMANN; Fiscal Year: 2012
    ..that Jagged1 triggers Notch1 activation and upregulates Hes1 in undifferentiated spermatogonia, while it triggers Notch3 activation and upregulation of HeyL in pachytene spermatocytes, specifically at the XY body...
  18. Timothy W King; Fiscal Year: 2016
    ..Our working hypothesis is that activating notch will increase the rate of closure and improve the barrier function of the wounded skin. ..
  19. JUNE KAR MING WU; Fiscal Year: 2014
    ..Work in our laboratory has shown that Notch3 is expressed in HemSCs, but not HemECs nor human dermal microvascular endothelial cells (HDMECs)...
  20. The Neuroprotective Gene Botch in Stroke-Induced Neurogenesis
    Sean T Byrne; Fiscal Year: 2012
    ..Furthermore, Botch can bind to Notchi and Notch3 and inhibit Notch signaling, a pathway known to be involved in promoting neural precursor survival and regulating ..
  21. Neural &Vascular Dysfunction As Mechanisms of Injury in Genetic Migraine Models
    Cenk Ayata; Fiscal Year: 2012
    ..1 channel, and in the blood vessel specific Notch3 receptor), further supporting the notion that CSD susceptibility is a common pathophysiological mechanism...
  22. Role of GSK-3 isoforms in Pancreatic Cancer
    Muthusamy Kunnimalaiyaan; Fiscal Year: 2012
    ..GSK-3 inhibitor showed growth suppression which is associated with a significant reduction in active Notch1 and Notch3 proteins...
  23. Targeting Notch3 in Lung Cancer
    Thao P Dang; Fiscal Year: 2012
    ..Our group was the first to link Notch3 pathway with lung cancers. We demonstrated that about 40% of resected lung tumors overexpresses NotchS...
  24. The Role of Notch Signaling in Tcell Function
    Barbara A Osborne; Fiscal Year: 2010
    ..At least three of these proteins, Notch1, Notch2 and Notch3, are expressed at various times during lymphoid development...
  25. Notch Signaling in Lymphangiogenesis
    Carrie J Shawber; Fiscal Year: 2013
    ..unique roles for different Notch family members in lymphatic growth and development, with a focus on Notch1, Notch3, and Notch4...
  26. Tian Li Wang; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): The main objective of this study is to elucidate the role of Notch3 signaling in the pathogenesis of ovarian cancer, one of the most lethal neoplastic diseases in women...
  27. Masanori Aikawa; Fiscal Year: 2015
    ..Specific Aim 2 will address the role of Notch3 based on our data that suggested its pro-atherogenic role...
  28. INVESTIGATING A ROLE FOR NOTCH SIGNALING IN ANGIOGENESIS
    GERALDINE WEINMASTER; Fiscal Year: 2001
    ..In fact, three of the four mammalian Notch genes are associated with cancer while the genes encoding Notch3 and the Notch ligand, Jagged1, are mutated in two inherited human diseases that involve defects in vascular ..
  29. Proteomic Analysis of Notch3 Complexes in Lung Cancer
    David Powell; Fiscal Year: 2005
    b>Notch3 is an intriguing plasma membrane-bound transcription factor that has recently been implicated in lung cancer...
  30. Pathogenesis of Notch Leukemia
    Jon Aster; Fiscal Year: 2007
    ..lines, suggesting a role for Notch1 in leukemia cell growth and survival; and 3), constitutively active Notch2 and Notch3 also cause T-ALL in our murine model, whereas Notch4 does not...
  31. MECHANISMS OF NEURODEGENERATION AND REGENERATION IN POST-STROKE SURVIVORS
    Raj Kalaria; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  32. Siblings With Ischemic Stroke Study (SWISS)
    JAMES MESCHIA; Fiscal Year: 2009
    ..DNA banking and the creation of permanent lymphoblastoid cell lines will be done to permit future collaborative efforts to study the genetic basis for stroke risk. ..
  33. ISGS: The Ischemic Stroke Genetics Study
    JAMES MESCHIA; Fiscal Year: 2006
    ..The application and SWISS share the same definitions for the present and absence of phenotype and key enrollment criteria. ..
  34. MOLECULAR CLONING OF A T(15;19) IN LUNG CANCER CELL LINE
    Thao Dang; Fiscal Year: 2005
    ..we demonstrated that the breakpoint on chromosome 19 lies approximately 40 kb upstream from the start site of Notch3, a member of the Notch proto- oncogene family...
  35. Molecular Determinants of Coronary Artery Disease
    Qing Wang; Fiscal Year: 2004
    ..The accomplishment of research objectives in this proposal has the potential to have a substantial impact on the understanding of the molecular mechanism of CAD and MI, thereby facilitating better prevention, diagnosis and therapy. ..
  36. GENES FOR VASCULAR MORPHOGENESIS: A GENETIC APPROACH
    Qing Wang; Fiscal Year: 2003
    ..Moreover, understanding the genetic mechanisms underlying KTS offers possibilities for treatment of KTS as well as conditions such as cancer that depend on angiogenesis. ..
  37. GENETIC DISSECTION OF A BONE DYSPLASIA/CANCER SYNDROME
    John Martignetti; Fiscal Year: 2002
    ....
  38. Molecular Mechanisms of Estrogen Neuroprotection
    Michael Wang; Fiscal Year: 2005
    ..The mechanism of how estrogen affects stroke will perhaps foster development of novel treatments for stroke, and may influence hormone replacement regimens for postmenopausal women. ..
  39. Molecular Mechanisms of Cardiac Arrhythmias
    Qing Wang; Fiscal Year: 2005
    ..These studies may provide a new framework for the rational design of therapeutic agents. ..
  40. Development of Digital SNP Analysis in Cancer Detection
    Ie Ming Shih; Fiscal Year: 2005
    ..Thus, the encouraging results from this study will ensure the detection of AI in plasma a promising cancer research direction for further exploration. ..
  41. Association of 7q22..1 gene VGF with obesity & leanness
    John Martignetti; Fiscal Year: 2008
    ..These physiologically linked, target-tissue genes may themselves play a functional role in obesity resistance or susceptibility, and thus become excellent candidates for future investigation. ..
  42. Frontotemporal degeneration: a basis for clinical trials
    David Knopman; Fiscal Year: 2006
    ..abstract_text> ..
  43. Protein interactions with CADASIL-mutants of Notch3
    Michael Wang; Fiscal Year: 2008
    ..In large part, the genetics of these disorders is complex. However, in families with CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), premature stroke ..
  44. Notch3 signaling in small-artery-diseases
    Anne Joutel; Fiscal Year: 2009
    ..We identified NotchS as the causative gene of CADASIL, an increasingly recognized autosomal dominant form of systemic small-vessel-disease causing stroke and dementia...
  45. Does the HSV-1 latency associated transcript (LAT) encode a protein?
    Clinton Jones; Fiscal Year: 2008
    ..Studies will also determine whether LAT encoded proteins inhibit apoptosis, and whether these proteins are necessary for the latency reactivation cycle. [unreadable] [unreadable] [unreadable]..
  46. Neurology of Attention and Neglect-A Network Approach
    Marek Marsel Mesulam; Fiscal Year: 2008
    ..The results of these experiments will help to understand the neurological bases of spatial attention and may lead to more rational treatments of hemispatial neglect. ..
  47. Hepatocyte growth factor activator and its inhibitors in mouse uterus
    Xuan Zhang; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..