WT1 pathogenic variants are associated with a broad spectrum of differences in sex development phenotypes and heterogeneous progression of renal disease (2023)
- Authors:
- USP affiliated authors: ONUCHIC, LUIZ FERNANDO - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- DOI: 10.1159/000517373
- Subjects: NEOPLASIAS RENAIS; GENES SUPRESSORES DE TUMOR
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Sexual development
- ISSN: 1661-5425
- Volume/Número/Paginação/Ano: v. 16, n. 1, p. 46-54, 2022
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
FERRARI, M. T. M et al. WT1 pathogenic variants are associated with a broad spectrum of differences in sex development phenotypes and heterogeneous progression of renal disease. Sexual development, v. 16, n. 1, p. 46-54, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/58605. Acesso em: 28 jan. 2026. -
APA
Ferrari, M. T. M., Watanabe, A., Silva, T. E. D., Gomes, N. L., Batista, R. L., Nishi, M. Y., et al. (2023). WT1 pathogenic variants are associated with a broad spectrum of differences in sex development phenotypes and heterogeneous progression of renal disease. Sexual development, 16( 1), 46-54. doi:10.1159/000517373 -
NLM
Ferrari MTM, Watanabe A, Silva TED, Gomes NL, Batista RL, Nishi MY, Paula LCPD, COSTA EC, Onuchic LF, Mendonca BB de. WT1 pathogenic variants are associated with a broad spectrum of differences in sex development phenotypes and heterogeneous progression of renal disease [Internet]. Sexual development. 2023 ; 16( 1): 46-54.[citado 2026 jan. 28 ] Available from: https://observatorio.fm.usp.br/handle/OPI/58605 -
Vancouver
Ferrari MTM, Watanabe A, Silva TED, Gomes NL, Batista RL, Nishi MY, Paula LCPD, COSTA EC, Onuchic LF, Mendonca BB de. WT1 pathogenic variants are associated with a broad spectrum of differences in sex development phenotypes and heterogeneous progression of renal disease [Internet]. Sexual development. 2023 ; 16( 1): 46-54.[citado 2026 jan. 28 ] Available from: https://observatorio.fm.usp.br/handle/OPI/58605 - PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
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- Cyst infection in hospital-admitted autosomal dominant polycystic kidney disease patients is predominantly multifocal and associated with kidney and liver volume
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- PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
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- Inbred PKD+/- male mice have lower GFRs but non-significant differences in renal concentrating capacity than age-matched wild type controls
- Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
Informações sobre o DOI: 10.1159/000517373 (Fonte: oaDOI API)
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