Novel mutation P.G866D in NNT gene found in family deficiency glucocorticoids change oxidative state of mononuclear cells (2015)
- Authors:
- USP affiliated authors: SILVA JUNIOR, WILSON ARAÚJO DA - FMRP ; LEOPOLDINO, ANDRÉIA MACHADO - FCFRP ; MOREIRA, AYRTON CUSTODIO - FMRP ; ELIAS, LUCILA LEICO KAGOHARA - FMRP ; CASTRO, MARGARET DE - FMRP ; ANTONINI, SONIR ROBERTO RAUBER - FMRP
- Unidades: FMRP; FCFRP
- Subjects: HORMÔNIOS GLICOCORTICOIDES; FENÓTIPOS; GENÓTIPOS
- Language: Inglês
- Imprenta:
- Publisher: SBG
- Publisher place: Águas de Lindóia
- Date published: 2015
- Source:
- Título do periódico: Abstracts
- Conference titles: Congresso Brasileiro de Genética
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ABNT
BODONI, A. F. et al. Novel mutation P.G866D in NNT gene found in family deficiency glucocorticoids change oxidative state of mononuclear cells. 2015, Anais.. Águas de Lindóia: SBG, 2015. . Acesso em: 16 abr. 2024. -
APA
Bodoni, A. F., Coeli-Lacchini, F. B., Sobral, L. M., Leopoldino, A. M., Moreira, A. C., Elias, L. L. K., et al. (2015). Novel mutation P.G866D in NNT gene found in family deficiency glucocorticoids change oxidative state of mononuclear cells. In Abstracts. Águas de Lindóia: SBG. -
NLM
Bodoni AF, Coeli-Lacchini FB, Sobral LM, Leopoldino AM, Moreira AC, Elias LLK, Silva Júnior WA da, Castro M de, Antonini SRR. Novel mutation P.G866D in NNT gene found in family deficiency glucocorticoids change oxidative state of mononuclear cells. Abstracts. 2015 ;[citado 2024 abr. 16 ] -
Vancouver
Bodoni AF, Coeli-Lacchini FB, Sobral LM, Leopoldino AM, Moreira AC, Elias LLK, Silva Júnior WA da, Castro M de, Antonini SRR. Novel mutation P.G866D in NNT gene found in family deficiency glucocorticoids change oxidative state of mononuclear cells. Abstracts. 2015 ;[citado 2024 abr. 16 ] - A homozygous NNT gene mutation identified by whole exoma sequencing (WES) in a boy with familial glucocorticoid deficiency (FGD) impairs mitochondrial oxidative stress
- Mitochondrial oxidative stress and glucocorticoid family deficiency: phenotypic and functional characterization of the new variant p.G866D in the gene Nicotinamide Nucleotide Transidrogenase (NNT)
- 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
- Mechanisms in endocrinology: a sense of time of the glucocorticoid circadian clock: from the ontogeny to the diagnosis of Cushing’s syndrome
- 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
- Molecular analysis of the hot spot area of the HSD3B2 gene in patientswith 3'beta'HSD deficiency
- Insuficiência adrenal primária no adulto: 150 anos depois de Addison
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