The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Girisha, Katta M; von Elsner, Leonie; Neethukrishna, Kausthubham; Muranjan, Mamta; Shukla, Anju; Bhavani, Gandham SriLakshmi; Nishimura, Gen; Kutsche, Kerstin; Mortier, Geert

Girisha, Katta M; von Elsner, Leonie; Neethukrishna, Kausthubham; Muranjan, Mamta; Shukla, Anju; Bhavani, Gandham SriLakshmi; Nishimura, Gen; Kutsche, Kerstin; Mortier, Geert.

Afiliação

Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Neethukrishna K; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Muranjan M; Department of Clinical Genetics, Seth GS Medical College and KEM Hospital, Mumbai, India.
Shukla A; Consultant in Clinical Genetics, P.D. Hinduja National Hospital & MRC, Mumbai, India.
Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Nishimura G; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Kutsche K; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan.
Mortier G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Hum Mutat ; 40(3): 299-309, 2019 03.

Article em En | MEDLINE | ID: mdl-30488656

Assuntos

Carboxiliases/genética; Epífises/anormalidades; Estudos de Associação Genética; Predisposição Genética para Doença; Mitocôndrias/metabolismo; Mutação/genética; Osteocondrodisplasias/genética; Apoptose; Caspase 3/metabolismo; Caspase 7/metabolismo; Sobrevivência Celular; Células Cultivadas; Criança; Pré-Escolar; Etanolamina/farmacologia; Feminino; Fibroblastos/patologia; Homozigoto; Humanos; Lactente; Recém-Nascido; Leupeptinas/farmacologia; Masculino; Mutação de Sentido Incorreto/genética; Linhagem; Sequenciamento do Exoma

Palavras-chave

hypomorphic mutation; mitochondrial dysfunction; phosphatidylethanolamine; phosphatidylserine decarboxylase; spondyloepimetaphyseal dysplasia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Carboxiliases / Predisposição Genética para Doença / Epífises / Estudos de Associação Genética / Mitocôndrias / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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