Cargando…

Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations

Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly occur in the brain. CCMs can be sporadic or hereditary in an autosomal dominant manner. The genes harboring variants of familial CCMs (FCCMs) include CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. In this study, we identifie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Fan, Xue, Yiteng, Zhang, Feng, Wei, Xiaoming, Zhou, Zhisong, Ma, Zhaoru, Wang, Xiaosong, Shen, Hong, Li, Yujun, Cui, Xiaoying, Liu, Li
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7538688/ https://www.ncbi.nlm.nih.gov/pubmed/33071727 http://dx.doi.org/10.3389/fnins.2020.525986

Ejemplares similares

CCM3 and cerebral cavernous malformation disease
por: Wang, Kang, et al.
Publicado: (2019)

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature
por: Liu, Wenyu, et al.
Publicado: (2022)

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan
por: Chang, Chun-Wei, et al.
Publicado: (2019)

Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations
por: Wang, Kang, et al.
Publicado: (2018)

A novel CCM3 mutation associated with cerebral cavernous malformation in a Chinese family
por: Jiang, Xiao-yu, et al.
Publicado: (2020)

A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family
por: Han, Guoqing, et al.
Publicado: (2021)

A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation
por: Huang, Wen-Qing, et al.
Publicado: (2016)

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
por: Yang, Lipeng, et al.
Publicado: (2020)

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation
por: Marto, João Pedro, et al.
Publicado: (2016)

Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene
por: Yang, Im-Yong, et al.
Publicado: (2016)

Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice
por: Boulday, Gwénola, et al.
Publicado: (2011)

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)
por: Benedetti, Valerio, et al.
Publicado: (2022)

Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation
por: Reddy, Shantan, et al.
Publicado: (2010)

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations
por: Lanfranconi, Silvia, et al.
Publicado: (2014)

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells
por: Pagenstecher, Axel, et al.
Publicado: (2009)

Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients
por: D'Angelo, Rosalia, et al.
Publicado: (2013)

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations
por: Much, Christiane D., et al.
Publicado: (2019)

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance
por: Scimone, Concetta, et al.
Publicado: (2018)

Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations
por: Koskimäki, Janne, et al.
Publicado: (2019)

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial
por: Lanfranconi, Silvia, et al.
Publicado: (2020)

Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
por: Ishii, Kazuhiro, et al.
Publicado: (2020)

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells
por: Riolo, Giulia, et al.
Publicado: (2021)

Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice
por: Choi, Jaesung P., et al.
Publicado: (2016)

Augmented endothelial exocytosis of angiopoietin-2 resulting from CCM3-deficiency contributes to the progression of cerebral cavernous malformation
por: Jenny Zhou, Huanjiao, et al.
Publicado: (2016)

Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations
por: You, Chao, et al.
Publicado: (2013)

CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study
por: Scimone, Concetta, et al.
Publicado: (2016)

The cerebral cavernous malformations proteins
por: Li, Xiaofeng, et al.
Publicado: (2015)

Focal epilepsy caused by single cerebral cavernous malformation (CCM) is associated with regional and global resting state functional connectivity (FC) disruption
por: D'Cruz, Jason, et al.
Publicado: (2019)

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view
por: Chen, Yanming, et al.
Publicado: (2023)

A Spinal Cavernous Malformation in Multiple Cerebral Cavernous Venous Malformations Syndrome
por: Vangrinsven, Guillaume, et al.
Publicado: (2023)

Role of pericytes in the development of cerebral cavernous malformations
por: Dai, Zifeng, et al.
Publicado: (2022)

Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs)
por: Nicholas-Bublick, Selena, et al.
Publicado: (2015)

Recent advances in cerebral cavernous malformation research
por: Padarti, Akhil, et al.
Publicado: (2018)

Cerebral Cavernous Malformation: Immune and Inflammatory Perspectives
por: Tu, Tianqi, et al.
Publicado: (2022)

Advances in the biology of cerebral cavernous malformations
por: Kivelev, Juri, et al.
Publicado: (2010)

Advances in the biology of cerebral cavernous malformations
por: Hauptman, Jason S., et al.
Publicado: (2010)

Unusual Presentation of Cerebral Cavernous Malformation
por: Kim, Won-Hyung, et al.
Publicado: (2015)

Postzygotic mosaicism in cerebral cavernous malformation
por: Rath, Matthias, et al.
Publicado: (2020)

Pregnancy Combined with Epilepsy and Cerebral Cavernous Malformation
por: Xu, Ya-Lan, et al.
Publicado: (2017)

Gamma Knife radiosurgery for cerebral cavernous malformation
por: Lee, Cheng-Chia, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_i4q18s7ldh7bikttg9paah3sp7