Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.

Flores, Shahida K; Deng, Yilun; Cheng, Ziming; Zhang, Xingyu; Tao, Sifan; Saliba, Afaf; Chu, Irene; Burnichon, Nelly; Gimenez-Roqueplo, Anne-Paule; Wang, Exing; Aguiar, Ricardo C T; Dahia, Patricia L M

Flores, Shahida K; Deng, Yilun; Cheng, Ziming; Zhang, Xingyu; Tao, Sifan; Saliba, Afaf; Chu, Irene; Burnichon, Nelly; Gimenez-Roqueplo, Anne-Paule; Wang, Exing; Aguiar, Ricardo C T; Dahia, Patricia L M.

Afiliación

Flores SK; Division of Hematology and Medical Oncology, Department of Medicine, UT Health San Antonio.
Deng Y; Division of Hematology and Medical Oncology, Department of Medicine, UT Health San Antonio.
Cheng Z; Division of Hematology and Medical Oncology, Department of Medicine, UT Health San Antonio.
Zhang X; Division of Hematology and Medical Oncology, Department of Medicine, UT Health San Antonio.
Tao S; Central South University Xiangya School of Medicine, Changsha, Hunan, China.
Saliba A; Division of Hematology and Medical Oncology, Department of Medicine, UT Health San Antonio.
Chu I; Central South University Xiangya School of Medicine, Changsha, Hunan, China.
Burnichon N; Division of Hematology and Medical Oncology, Department of Medicine, UT Health San Antonio.
Gimenez-Roqueplo AP; Division of Hematology and Medical Oncology, Department of Medicine, UT Health San Antonio.
Wang E; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Genetics Department, Paris, France.
Aguiar RCT; Université de Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, Paris, France.
Dahia PLM; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Genetics Department, Paris, France.

J Clin Endocrinol Metab ; 105(9)2020 09 01.

Article en En | MEDLINE | ID: mdl-32575117

Asunto(s)

Membrana Celular/metabolismo; Proteínas de la Membrana/genética; Proteínas de la Membrana/metabolismo; Mutación; Neoplasias de las Glándulas Suprarrenales/genética; Neoplasias de las Glándulas Suprarrenales/metabolismo; Sustitución de Aminoácidos; Técnicas de Silenciamiento del Gen; Predisposición Genética a la Enfermedad; Mutación de Línea Germinal; Células HEK293; Humanos; Proteínas de la Membrana/química; Mutagénesis Sitio-Dirigida; Mutación/fisiología; Paraganglioma/genética; Paraganglioma/metabolismo; Feocromocitoma/genética; Feocromocitoma/metabolismo; Transporte de Proteínas/genética; Distribución Tisular

Palabras clave

TMEM127; endocytic motif; germline variant; paraganglioma; pheochromocytoma; transmembrane protein; tumor suppressor gene; variant classification

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Membrana Celular / Proteínas de la Membrana / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2020 Tipo del documento: Article

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