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 (2002)
- Authors:
- Autor USP: ONUCHIC, LUIZ FERNANDO - FM
- Unidade: FM
- Assunto: IMUNOGLOBULINAS
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Human Genetics
- Volume/Número/Paginação/Ano: v. 70, p. 1305-1317, 2002
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ABNT
ONUCHIC, Luiz F. et al. 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. American Journal of Human Genetics, v. 70, p. 1305-1317, 2002Tradução . . Acesso em: 23 jan. 2026. -
APA
Onuchic, L. F., Furu, L., Nagasawa, Y., Hou, X., Eggermann, T., Ren, Z., et al. (2002). 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. American Journal of Human Genetics, 70, 1305-1317. -
NLM
Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Schöneborn SR, Mrug M, Sweeney W, Avner ED, Zerres. Klaus, Woodford LMG, Somlo S, Germino GG. 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. American Journal of Human Genetics. 2002 ; 70 1305-1317.[citado 2026 jan. 23 ] -
Vancouver
Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Schöneborn SR, Mrug M, Sweeney W, Avner ED, Zerres. Klaus, Woodford LMG, Somlo S, Germino GG. 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. American Journal of Human Genetics. 2002 ; 70 1305-1317.[citado 2026 jan. 23 ] - NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology
- Doenças císticas renais em pediatria
- Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
- 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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