A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.

Li, Yongyun; Yang, Liu; Yang, Jie; Shi, Jiahao; Chai, Peiwei; Ge, Shengfang; Wang, Yefei; Fan, Xianqun; Jia, Renbing

Li, Yongyun; Yang, Liu; Yang, Jie; Shi, Jiahao; Chai, Peiwei; Ge, Shengfang; Wang, Yefei; Fan, Xianqun; Jia, Renbing.

Afiliação

Li Y; Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 639, Zhizaoju Road, Huangpu District, Shanghai, 200001, China.
Yang L; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.
Yang J; The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Shi J; Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 639, Zhizaoju Road, Huangpu District, Shanghai, 200001, China.
Chai P; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.
Ge S; Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 639, Zhizaoju Road, Huangpu District, Shanghai, 200001, China.
Wang Y; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.
Fan X; Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 639, Zhizaoju Road, Huangpu District, Shanghai, 200001, China.
Jia R; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.

Hum Genet ; 139(12): 1499-1511, 2020 Dec.

Article em En | MEDLINE | ID: mdl-32533362

Assuntos

Exoftalmia/genética; Glicoproteínas de Membrana/genética; Complexos Multiproteicos/genética; Malformações Vasculares/genética; Aciltransferases/genética; Adulto; Animais; Sistemas CRISPR-Cas/genética; Movimento Celular/genética; Proliferação de Células/genética; Células Endoteliais/metabolismo; Células Endoteliais/patologia; Éxons/genética; Exoftalmia/patologia; Feminino; Humanos; Masculino; Pessoa de Meia-Idade; Linhagem; Fenótipo; Malformações Vasculares/patologia; Sequenciamento do Exoma; Peixe-Zebra/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Exoftalmia / Complexos Multiproteicos / Malformações Vasculares Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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