Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene (2002)
- Authors:
- Autor USP: ONUCHIC, LUIZ FERNANDO - FM
- Unidade: FM
- Assunto: NEFROLOGIA
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of the American Society of Nephrology
- Volume/Número/Paginação/Ano: v. 13, n 9, p. 2239-2245, september, 2002
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ABNT
NAGASAWA, Yasuyuki et al. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology, v. 13, p. 2239-2245, 2002Tradução . . Acesso em: 23 jan. 2026. -
APA
Nagasawa, Y., Matthiesen, S., Onuchic, L. F., Hou, X., Bergmann, C., Esquivel, E., et al. (2002). Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology, 13, 2239-2245. -
NLM
Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Woodford LG, Büttner R, Zerres K, Germino GG. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology. 2002 ; 13 2239-2245.[citado 2026 jan. 23 ] -
Vancouver
Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Woodford LG, Büttner R, Zerres K, Germino GG. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. Journal of the American Society of Nephrology. 2002 ; 13 2239-2245.[citado 2026 jan. 23 ] - 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
- NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology
- Doenças císticas renais em pediatria
- Cyst infection in hospital-admitted autosomal dominant polycystic kidney disease patients is predominantly multifocal and associated with kidney and liver volume
- Genomic organization and expression of a calmodulin-related gene on chromossome 6p12 and its exclusion as a PKHD1 candidate gene
- PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
- Ausência de redução da capacidade de concentração urinária em camundongo heterozigoto para mutação nula no gene
- 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
- Molecular cloning of a novel cytokine-like gene
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