Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts (2005)
- Authors:
- Autor USP: ONUCHIC, LUIZ FERNANDO - FM
- Unidade: FM
- DOI: 10.1136/jmg.2004.024489
- Subjects: GENOMAS (ANÁLISE); NEFROPATIAS (GENÉTICA); MUTAÇÃO GENÉTICA; POLIMORFISMO
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 42, p. 336-349, 2005
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
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ABNT
SHARP, A. M. et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. Journal of Medical Genetics, v. 42, p. 336-349, 2005Tradução . . Disponível em: https://doi.org/10.1136/jmg.2004.024489. Acesso em: 09 jan. 2026. -
APA
Sharp, A. M., Messiaen, L. M., Page, G., Gubler, M. -C., Antignac, C., Onuchic, L. F., et al. (2005). Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. Journal of Medical Genetics, 42, 336-349. doi:10.1136/jmg.2004.024489 -
NLM
Sharp AM, Messiaen LM, Page G, Gubler M-C, Antignac C, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [Internet]. Journal of Medical Genetics. 2005 ; 42 336-349.[citado 2026 jan. 09 ] Available from: https://doi.org/10.1136/jmg.2004.024489 -
Vancouver
Sharp AM, Messiaen LM, Page G, Gubler M-C, Antignac C, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [Internet]. Journal of Medical Genetics. 2005 ; 42 336-349.[citado 2026 jan. 09 ] Available from: https://doi.org/10.1136/jmg.2004.024489 - Expression of polyductin, the PKHD1 gene product, during normal and abnormal fetal development of the intrahepatic billiary sytem, billiary atresia, paucity of the intrahepatic biliary system and liver tumors
- Polyductin undergoes notch-like processing and regulated release from primary cilia
- Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease
- Haploinsufficiency for PKD1 results in increased tubularization of the bowman´s capsule and overexpression of COX-2
- Development of in vitro espression system of autosomal ressive polycystic kidney disease responsible gene (PKIID1) product, polydutin
- Inactivation of PKHD1 results in a liver phenotype characteristic of autosomal recessive polycystic kidney disease (ARPKD)
- Dendrogram Analyses of Relative Expression Between Bladder Cancers and Controls Identify PTEN-HIF1α Association as an Alteration Characteristic of Malignancy
- Infundibular stenosis in Bardet–Biedl syndrome
- Clinical aspects of autosomal recessive polycystic kidney disease
- Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1
Informações sobre o DOI: 10.1136/jmg.2004.024489 (Fonte: oaDOI API)
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