Polycystic kidney disease, autosomal recessive. 2001 Jul 19. In: Pagon RA, Adam MP, Bird TD, et al, eds. Gene Reviews [online]. Seattle, WA: University of Washington, 1993–2013. http://www.ncbi.nlm. nih.gov/books/NBK1326/. http://www.geneclinics.org. doi (Accessed 22 September ...
Childhood polycystic kidney disease. In: Li X, ed. Polycystic Kidney Disease [Internet]. Brisbane, Australia: Codon Publications; 2015. Chap 2. https:// www.ncbi.nlm.nih.gov/books/NBK373381/. Accessed March 7, 2017. doi:10.15586/codon.pkd.2015.ch2.Patil A, Sweeney WE, Avner ED, Pan ...
The most common form, autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed in adults and caused by mutation in PKD1 or PKD2. The PKD1 protein, polycystin-1, is a large receptor-like protein, whereas polycystin-2 is a transient receptor potential channel. ...
Sweeney W, Avner ED. Polycystic kidney disease, autosomal recessive. Seattle: University of Washington; 2001 [updated 6 Mar 2014].http://www.ncbi.clm.nih.gov/books/NBK1326]. Google Scholar Dell KM. The spectrum of polycystic kidney disease in children. Adv Chronic Kidney Dis. 2011;18(5):...
The Autosomal Dominant Polycystic Kidney Disease Data Base, public genomic browsers (Ensembl, NCBI, 1000Genomes) and data published in the literature were searched to look for already described variants and for variant classification. All of the sequence changes identi- fied have been confirmed on a...
Prediction of Likelihood of Polycystic Kidney Disease in the Fetus When a Parent has Autosomal Dominant Polycystic Kidney Disease As a genetic disorder, autosomal dominant polycystic kidney disease (ADPKD) is present from conception. Yet, as is often the case with such disorders, the phenotypic prese...
BMJ 万方医学 NCBI NCBI Europe PMC 查看更多 相似文献 参考文献 引证文献Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Discusses the candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Bilateral polycystic kidneys and...
Biology of polycystic kidney disease 来自 NCBI 喜欢 0 阅读量: 23 作者:FA Carone,R Bacallao,YS Kanwar 摘要: Author information: (1)Department of Pathology, Northwestern University Medical School, Chicago, Illinois.关键词:DRUGS OF ABUSE LARVAE PUTREFACTION OPIATES ENTOMOLOGY ...
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cyst formation throughout the kidney parenchyma. It is caused by mutations in either of two genes, PKD1 and PKD2. Mice that lack functional Pkd1 (Pkd1 -/- ), develop rapidly progres
Fenofibrate use is associated with an elevation in serum creatinine and BUN levels41; therefore, whether this drug can be used over the long term in kidney disease patients is unclear. In conclusion, miR-17B92 promotes ADPKD progression through a new mechanism involving the inhibition of mitochon...