نتایج جستجو برای: pkd1 gene

تعداد نتایج: 1141754  

Journal: :Pharmacophore 2022

Autosomal dominant polycystic kidney disease (ADPKD) is caused by a mutation in the disease1 (PKD1) gene, which responsible for 85% of ADPKD cases. The PKD1 gene encodes polycystin-1 (PC1) protein that has large extracellular area containing many polypeptide motifs. region PC1 includes several well-defined peptide domains show it been involved cell-cell and/or cell-matrix interactions. One regi...

Journal: :Laboratory animals 1997
J Nauta M A Goedbloed T M Luider A T Hoogeveen A M van den Ouweland D J Halley

Human autosomal dominant polycystic kidney disease (ADPKD) is a high incidence disorder leading to renal failure in many patients. The majority of cases results from a mutation in the PKD1 gene. The only well documented animal model of ADPKD is the Han:SPRD-Pkd strain. Its genetic basis is unknown as yet. In the current study we determined whether the disease in these rats is genetically linked...

2012
Luis F. Menezes Fang Zhou Andrew D. Patterson Klaus B. Piontek Kristopher W. Krausz Frank J. Gonzalez Gregory G. Germino

Autosomal Dominant Polycystic Kidney Disease (ADPKD; MIM ID's 173900, 601313, 613095) leads to end-stage kidney disease, caused by mutations in PKD1 or PKD2. Inactivation of Pkd1 before or after P13 in mice results in distinct early- or late-onset disease. Using a mouse model of ADPKD carrying floxed Pkd1 alleles and an inducible Cre recombinase, we intensively analyzed the relationship between...

Asghar Hajibeigi, Hossein Najmabadi, Mahdi M. Haghighi, Mina Rezaee, Mina Ohadi, Ramin Radpour,

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic nephropathy, which is characterized by replacement of renal parenchyma with multiple cysts. In Iran, the disease prevalence within the chronic hemodialysis patient population is approximately 8-10%. So far, three genetic loci have been identified to be responsible for ADPKD. Little information is available concernin...

2017
Liyong Zhang Zhenlong Zhao Shuping Xu Manuj Tandon Courtney R. LaValle Fan Deng Q. Jane Wang

In prostate cancer, androgen/androgen receptor (AR) and their downstream targets play key roles in all stages of disease progression. The protein kinase D (PKD) family, particularly PKD1, has been implicated in prostate cancer biology. Here, we examined the cross-regulation of PKD1 by androgen signaling in prostate cancer cells. Our data showed that the transcription of PKD1 was repressed by an...

Journal: :Human molecular genetics 1998
T J Watnick M A Gandolph H Weber H P Neumann G G Germino

Approximately 70% of the gene responsible for the most common form of autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in several highly homologous copies located more proximally on chromosome 16. We recently have described a novel technique for mutation detection in the duplicated region of PKD1 that circumvents the difficulties posed by these homologs. We have used this met...

2014
Isaline Rowe Marco Chiaravalli Klaus B. Piontek Gregory G. Germino Alessandra Boletta

The PKD1 gene is essential for a number of biological functions, and its loss-of-function causes autosomal dominant polycystic kidney disease (ADPKD). The gene is developmentally regulated and believed to play an essential role in renal development. Previous studies have shown that manipulating murine renal organ cultures with dominant-negative forms of the Pkd1 gene impaired ureteric bud (UB) ...

2012
Ni Qiu Zhousheng Xiao Li Cao Valentin David Leigh Darryl Quarles

Conditional deletion of Pkd1 in osteoblasts using either Osteocalcin(Oc)-Cre or Dmp1-Cre results in defective osteoblast-mediated postnatal bone formation and osteopenia. Pkd1 is also expressed in undifferentiated mesenchyme that gives rise to the osteoblast lineage. To examine the effects of Pkd1 on prenatal osteoblast development, we crossed Pkd1(flox/flox) and Col1a1(3.6)-Cre mice, which has...

Journal: :American journal of physiology. Renal physiology 2008
Thomas A Natoli Tiffany C Gareski William R Dackowski Laurie Smith Nikolay O Bukanov Ryan J Russo Hervé Husson Douglas Matthews Peter Piepenhagen Oxana Ibraghimov-Beskrovnaya

Development of novel therapies for polycystic kidney disease (PKD) requires assays that adequately reflect disease biology and are adaptable to high-throughput screening. Here we describe an embryonic cystic kidney organ culture model and demonstrate that a new mutant allele of the Pkd1 gene (Pkd1(tm1Bdgz)) modulates cystogenesis in this model. Cyst formation induced by cAMP is influenced by th...

Journal: :Nature Medicine 1995

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید