A homozygous NNT gene mutation identified by whole exoma sequencing (WES) in a boy with familial glucocorticoid deficiency (FGD) impairs mitochondrial oxidative stress (2015)
- Authors:
- USP affiliated authors: ANTONINI, SONIR ROBERTO RAUBER - FMRP ; CASTRO, MARGARET DE - FMRP ; MOREIRA, AYRTON CUSTODIO - FMRP ; ELIAS, LUCILA LEICO KAGOHARA - FMRP ; SILVA JUNIOR, WILSON ARAÚJO DA - FMRP ; LEOPOLDINO, ANDRÉIA MACHADO - FCFRP
- Unidades: FMRP; FCFRP
- Subjects: ESTRESSE OXIDATIVO; MUTAÇÃO GENÉTICA; MITOCÔNDRIAS
- Language: Inglês
- Imprenta:
- Source:
- Título: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 84, suppl. 2, p. 6, res. 001, 2015
- Conference titles: Congress of the Latin American Society of Pediatric Endocrinology
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ABNT
BODONI, A. et al. A homozygous NNT gene mutation identified by whole exoma sequencing (WES) in a boy with familial glucocorticoid deficiency (FGD) impairs mitochondrial oxidative stress. Hormone Research in Paediatrics. Basel: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 09 maio 2026. , 2015 -
APA
Bodoni, A., Coeli-Lacchini, F., Sobral, L., Moreira, A. C., Elias, L. L. K., Silva Júnior, W. A. da, et al. (2015). A homozygous NNT gene mutation identified by whole exoma sequencing (WES) in a boy with familial glucocorticoid deficiency (FGD) impairs mitochondrial oxidative stress. Hormone Research in Paediatrics. Basel: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. -
NLM
Bodoni A, Coeli-Lacchini F, Sobral L, Moreira AC, Elias LLK, Silva Júnior WA da, Leopoldino AM, Castro M de, Antonini SRR. A homozygous NNT gene mutation identified by whole exoma sequencing (WES) in a boy with familial glucocorticoid deficiency (FGD) impairs mitochondrial oxidative stress. Hormone Research in Paediatrics. 2015 ; 84 6.[citado 2026 maio 09 ] -
Vancouver
Bodoni A, Coeli-Lacchini F, Sobral L, Moreira AC, Elias LLK, Silva Júnior WA da, Leopoldino AM, Castro M de, Antonini SRR. A homozygous NNT gene mutation identified by whole exoma sequencing (WES) in a boy with familial glucocorticoid deficiency (FGD) impairs mitochondrial oxidative stress. Hormone Research in Paediatrics. 2015 ; 84 6.[citado 2026 maio 09 ] - Mitochondrial oxidative stress and glucocorticoid family deficiency: phenotypic and functional characterization of the new variant p.G866D in the gene Nicotinamide Nucleotide Transidrogenase (NNT)
- Novel mutation P.G866D in NNT gene found in family deficiency glucocorticoids change oxidative state of mononuclear cells
- Whole exome: análise exploratória do exoma de um paciente com deficiência familiar de glicocorticoide
- Whole exome sequencing identifies a homozygous mutation in nicotinamide nucleotide transidrogenase as the cause of familial glucocorticoid deficiency
- Loss-of-function NNT mutations impair antioxidantes mechanisms and decreases cortisol secretion in patients with famililar glucocorticoid deficiency
- Commom polymorphisms in GHRd3, IGFBP3 and IGF1 genes do not explain GH-IGF-I dissociation in treated acromegalic patients
- Time course of central precocious puberty development caused by an MKRN3 gene mutation: a prismatic care
- Mechanisms in endocrinology: a sense of time of the glucocorticoid circadian clock: from the ontogeny to the diagnosis of Cushing’s syndrome
- Sensibilidade aos glicocorticóides (GC) em indivíduos normais
- Insuficiência adrenal primária no adulto: 150 anos depois de Addison
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