Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis.

Warren, Mikako; Takeda, Moe; Partikian, Arthur; Opas, Lawrence; Fine, Richard; Yano, Shoji

Warren, Mikako; Takeda, Moe; Partikian, Arthur; Opas, Lawrence; Fine, Richard; Yano, Shoji.

Afiliación

Warren M; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Takeda M; Department of Pathology, Keck School of Medicine, LAC+USC Medical Center, University of Southern California, Los Angeles, CA, USA.
Partikian A; Departments of Pediatrics and Neurology, LAC+USC Medical Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Opas L; Pediatric Nephrology Division, LAC+USC Medical Center, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Fine R; Pediatric Nephrology Division, LAC+USC Medical Center, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Yano S; Genetics Division, LAC+USC Medical Center, Department of Pediatrics, Keck School of Medicine, University of Southern California, 1801 Marengo Street General Laboratory Building Rm1G24, Los Angeles, CA, 90033, USA. syano@usc.edu.

Pediatr Nephrol ; 35(6): 1129-1132, 2020 06.

Article en En | MEDLINE | ID: mdl-32193649

Asunto(s)

Codón sin Sentido/genética; Glomeruloesclerosis Focal y Segmentaria/genética; Proteínas Portadoras; Niño; Epilepsia Refractaria/complicaciones; Glomeruloesclerosis Focal y Segmentaria/diagnóstico; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Masculino; Proteínas del Tejido Nervioso; Podocitos/metabolismo; Proteína 1 Supresora de la Señalización de Citocinas

Palabras clave

Immunohistochemistry; Intellectual disability; Nephrotic syndrome; Nonsense mutation; Seizure; Suppressor of cytokine signaling 1 (SOCS1); Tripartite motif protein (TRIM)

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Glomeruloesclerosis Focal y Segmentaria / Codón sin Sentido Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

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