Identification of a novel LATS1 variant associated with familial cerebral cavernous malformations in a Chinese family.

Geng, Liangyuan; Jiang, Tao; Zhu, Yihao; Wang, Qingru; Yuan, Wenwen; Hu, Xinhua; Zou, Yuanjie; Xiao, Hong; Liu, Hongyi

Geng, Liangyuan; Jiang, Tao; Zhu, Yihao; Wang, Qingru; Yuan, Wenwen; Hu, Xinhua; Zou, Yuanjie; Xiao, Hong; Liu, Hongyi.

Afiliação

Geng L; Department of Neurosurgery, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, 210029, People's Republic of China.
Jiang T; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, 211166, China.
Zhu Y; Department of Epidemiology and Biostatistics, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, China.
Wang Q; Department of Neurosurgery, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, 210029, People's Republic of China.
Yuan W; Department of Epidemiology and Biostatistics, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, China.
Hu X; Department of Epidemiology and Biostatistics, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211166, China.
Zou Y; Department of Neurosurgery, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, 210029, People's Republic of China.
Xiao H; Department of Neurosurgery, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, 210029, People's Republic of China.
Liu H; Department of Neuro-Psychiatric Institute, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, 210029, China.

Neurol Sci ; 43(11): 6389-6397, 2022 Nov.

Article em En | MEDLINE | ID: mdl-35986120

Assuntos

Hemangioma Cavernoso do Sistema Nervoso Central; Humanos; Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem; Hemangioma Cavernoso do Sistema Nervoso Central/genética; Proteína KRIT1/genética; Células Endoteliais/patologia; Proteínas Serina-Treonina Quinases/genética; China; Linhagem

Palavras-chave

Angiogenesis; Familial cerebral cavernous malformations; Pathogenic variant; Sanger sequencing; VEGF; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemangioma Cavernoso do Sistema Nervoso Central Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Neurol Sci Ano de publicação: 2022 Tipo de documento: Article

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