Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Edvardson, Simon; Nicolae, Claudia M; Noh, Grace J; Burton, Jennifer E; Punzi, Giuseppe; Shaag, Avraham; Bischetsrieder, Jessica; De Grassi, Anna; Pierri, Ciro Leonardo; Elpeleg, Orly; Moldovan, George-Lucian

Edvardson, Simon; Nicolae, Claudia M; Noh, Grace J; Burton, Jennifer E; Punzi, Giuseppe; Shaag, Avraham; Bischetsrieder, Jessica; De Grassi, Anna; Pierri, Ciro Leonardo; Elpeleg, Orly; Moldovan, George-Lucian.

Afiliação

Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
Nicolae CM; Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA.
Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.
Burton JE; University of Illinois College of Medicine at Peoria, Illini Drive, Peoria, IL 61605, USA.
Punzi G; Laboratory of Biochemistry, Molecular and Computational Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari 70125, Italy.
Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
Bischetsrieder J; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.
De Grassi A; Laboratory of Biochemistry, Molecular and Computational Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari 70125, Italy.
Pierri CL; Laboratory of Biochemistry, Molecular and Computational Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari 70125, Italy.
Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. Electronic address: elpeleg@hadassah.org.il.
Moldovan GL; Department of Biochemistry and Molecular Biology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA. Electronic address: gmoldovan@pennstatehealth.psu.edu.

Am J Hum Genet ; 104(1): 179-185, 2019 01 03.

Article em En | MEDLINE | ID: mdl-30595371

Assuntos

Cegueira/congênito; Cegueira/genética; Insuficiência de Crescimento/genética; Mutação com Ganho de Função; Heterozigoto; Microcefalia/genética; Espasmos Infantis/genética; Ubiquitina-Proteína Ligases/genética; Sequência de Aminoácidos; Apoptose; Criança; Pré-Escolar; Deficiências do Desenvolvimento/genética; Estresse do Retículo Endoplasmático; Humanos; Lactente; Masculino; Modelos Moleculares; Espasmos Infantis/congênito; Ubiquitina-Proteína Ligases/química; Resposta a Proteínas não Dobradas

Palavras-chave

ER stress; RNF13; XBP1 splicing; epilepsy; microcephaly

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Cegueira / Ubiquitina-Proteína Ligases / Insuficiência de Crescimento / Mutação com Ganho de Função / Heterozigoto / Microcefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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