Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations
- 23 August 2024
- journal article
- research article
- Published by Elsevier in Journal of Stroke and Cerebrovascular Diseases
- Vol. 33 (11) , 107947
Abstract
No abstract availableKeywords
Funding Information
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (88887.130752/2016-00)
- Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (E-26/201.040/2021)
- Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (E-26/210.273/2018)
- Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (SEI-260003/001342/2024)
- Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (E-26/210.657/2021)
- Ministério da Ciência, Tecnologia, Inovações e Comunicações (0097/2016)
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (440779/2016-2)
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (37990007 EIND)
This publication has 50 references indexed in Scilit:
- A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformationsneurogenetics, 2023
- Comprehensive CCM3 Mutational Analysis in Two Patients with Syndromic Cerebral Cavernous MalformationTranslational Stroke Research, 2023
- Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformationThe American Journal of Human Genetics, 2021
- Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformationsHuman Mutation, 2019
- Novel functions of CCM1 delimit the relationship of PTB/PH domainsBiochimica et Biophysica Acta (BBA) - Proteins and Proteomics, 2017
- Signaling pathways and the cerebral cavernous malformations proteins: lessons from structural biologyCellular and Molecular Life Sciences, 2013
- CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletionsneurogenetics, 2013
- Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complexHuman Mutation, 2008
- UCSF Chimera—A visualization system for exploratory research and analysisJournal of Computational Chemistry, 2004
- Clinical features of cerebral cavernous malformations patients with KRIT1 mutationsAnnals of Neurology, 2003