Open Access
Mutation and Polymorphism Report
Rachel Grigg,Rod A. Lea,Robert P. Curtain,John MacMillian,Lyn R. Griffiths +4 more
- 01 Jan 2000
TL;DR: The identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree is described in this paper, where the mutation was found to be related to a mutation in the notch 3 gene.
read more
Abstract: Title : Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree
read more
Chat with Paper
AI Agents for this Paper
Find similar papers on Google Scholar, PubMed and Arxiv
Write a critical review of this paper
Analyze citations of this paper to find unaddressed research gaps
References
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
Anne Joutel,Katayoun Vahedi,Christophe Corpechot,Alain Troesch,Hugues Chabriat,Céline Vayssière,Corinne Cruaud,Jacqueline Maciazek,Jean Weissenbach,Marie-Germaine Bousser,Jean-François Bach,Elisabeth Tournier-Lasserve +11 more
TL;DR: The findings suggest that aberrant dimerisation of Notch3, due to abnormal disulphide bridging with another NotCh3 molecule or with another protein, may be involved in the pathogenesis of this disorder.
687
Notch signalling pathway and human diseases.
TL;DR: Several homologs of the Drosophila Notch receptor and its ligands, Delta/Serrate, have been cloned in man, pointing out the broad spectrum of Notch activity in humans.
226
Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia.
Anne Joutel,Christophe Corpechot,Anne Ducros,Katayoun Vahedi,Hugues Chabriat,Philippe Mouton,Sonia Alamowitch,Valérie Domenga,Michaelle Cécillion,Emmanuelle Maréchal,Jacqueline Maciazek,Céline Vayssière,Corinne Cruaud,E. A. Cabanis,Marie Madeleine Ruchoux,Jean Weissenbach,Jean Francois Bach,Marie-Germaine Bousser,Elisabeth Tournier-Lasserve +18 more
TL;DR: Identification of the CADASIL gene will provide a valuable diagnostic tool for clinicians and could be used to estimate the prevalence of this underdiagnosed condition and help in the understanding of pathophysiological mechanisms of CADASil and vascular dementia.
138
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy.
Alice-Ann Sullivan,Bin Tean Teh,Sue Jeavons,Martin Schalling,Peter A. Silburn,Catharina Larsson,Richard S. Boyle +6 more
TL;DR: An Australian kindred with typical clinical features of CADASIL is reported, the diagnosis being supported by linkage analysis and no expansion was detected on repeat expansion detection (RED) testing.
22