Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination (2023)
- Authors:
- USP affiliated authors: MONTENEGRO, LUCIANA RIBEIRO - FM ; XAVIER, ANA CLAUDIA LATRÔNICO - FM
- Unidade: FM
- DOI: 10.1210/clinem/dgad151
- Subjects: MUTAÇÃO GENÉTICA; PUBERDADE PRECOCE; WESTERN BLOTTING; CRIANÇAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Washington
- Date published: 2023
- Source:
- Título: Journal of clinical endocrinology & metabolism
- ISSN: 0021-972X
- Volume/Número/Paginação/Ano: v. 108, n. 7, p. 1646-1656, 2023
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
MAGNOTTO, John C et al. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination. Journal of clinical endocrinology & metabolism, v. 108, n. 7, p. 1646-1656, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/54585. Acesso em: 27 dez. 2025. -
APA
Magnotto, J. C., Mancini, A., Bird, K., Montenegro, L., Tutunculer, F., Pereira, S. A., et al. (2023). Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination. Journal of clinical endocrinology & metabolism, 108( 7), 1646-1656. doi:10.1210/clinem/dgad151 -
NLM
Magnotto JC, Mancini A, Bird K, Montenegro L, Tutunculer F, Pereira SA, Simas V, Garcia L, Roberts SA, Xavier ACL. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination [Internet]. Journal of clinical endocrinology & metabolism. 2023 ; 108( 7): 1646-1656.[citado 2025 dez. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54585 -
Vancouver
Magnotto JC, Mancini A, Bird K, Montenegro L, Tutunculer F, Pereira SA, Simas V, Garcia L, Roberts SA, Xavier ACL. Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination [Internet]. Journal of clinical endocrinology & metabolism. 2023 ; 108( 7): 1646-1656.[citado 2025 dez. 27 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54585 - Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
- Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels
- Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism
- Paternally inherited DLK1 deletion as novel cause of familial central precocious puberty
- High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic
- Loss-of-function mutations in a gene cause central precocius puberty
- Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region
- Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Clinical and Genetic Characterization of Familial Central Precocious Puberty
- Estudo in vitro da sensibilidade ao IGF-1 de fibroblastos de crianças nascidas pequenas para a idade gestacional sem recuperação estatural pós-natal
Informações sobre o DOI: 10.1210/clinem/dgad151 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
