نتایج جستجو برای: pkd1 gene

تعداد نتایج: 1141754  

Journal: :Arteriosclerosis, thrombosis, and vascular biology 2007
Sabrine Hassane Nanna Claij Irma S Lantinga-van Leeuwen J Conny Van Munsteren Natascha Van Lent Roeland Hanemaaijer Martijn H Breuning Dorien J M Peters Marco C DeRuiter

OBJECTIVE Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a multi-system disorder characterized by progressive cyst formation in the kidneys. Serious complications of ADPKD are intracranial and aortic aneurysms. The condition is mainly caused by mutations in the PKD1 or PKD2 gene. We have carefully analyzed vascular remodeling in hypomorphic Pkd1(nl/nL) mouse model with dissecting aneur...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2011
Jiang Zhu Yong Yu Maximilian H Ulbrich Ming-hui Li Ehud Y Isacoff Barry Honig Jian Yang

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in TRPP2 and PKD1, which form an ion channel/receptor complex containing three TRPP2 and one PKD1. A TRPP2 C-terminal coiled-coil trimer, critical for the assembly of this complex, associates with a single PKD1 C-terminal coiled-coil. Many ADPKD pathogenic mutations result in the abolishment of the TRPP2/PKD1 coiled-coi...

2010
Du Chuanyou Zhang Sazzad Hassan Md. Helal Uddin

nloaded cer cells undergo epithelial-mesenchymal transition (EMT) as a program of increased invasion and tasis during cancer progression. Here, we report that a novel regulator of EMT in cancer cells is protein D1 (PKD1), which is downregulated in advanced prostate, breast, and gastric cancers. Ectopic reexpresf PKD1 in metastatic prostate cancer cells reversibly suppressed expression of mesenc...

Journal: :The American Journal of Human Genetics 1997

Journal: :Cell structure and function 2005
Dai Shiba Tetsuro Takamatsu Takahiko Yokoyama

Primary cilia are hypothesized to act as a mechanical sensor to detect renal tubular fluid flow. Anomalous structure of primary cilia and/or impairment of increases in intracellular Ca2+ concentration in response to fluid flow are thought to result in renal cyst formation in conditional kif3a knockout, Tg737 and pkd1/pkd2 mutant mice. The mutant inv/inv mouse develops multiple renal cysts like ...

Journal: :Journal of medical genetics 1993
B Peral J L San Millán C Hernández A Valero G M Lathrop J S Beckmann F Moreno

Although most mutations causing ADPKD in European populations have been mapped to the PKD1 locus on chromosome 16, some of them appear to be unlinked to this locus. To evaluate the incidence of unlinked mutations in Spain we have typed 31 Spanish families from different geographical sites for six closely linked DNA polymorphic marker loci flanking PKD1 detected by probes D16S85, D16S21, D16S259...

Journal: :Journal of medical genetics 1992
E Coto S Aguado J Alvarez M J Menéndez Díaz C López-Larrea

Thirteen Spanish families with autosomal dominant polycystic kidney disease were studied. In one family the disease did not segregate with polymorphic markers around the PKD1 locus. All subjects over the age of 30 years carrying a mutation at the PKD1 locus showed renal ultrasonographic cysts, but 40% of carriers of the PKD1 mutation younger than 30 years did not have renal cysts. Hypertension ...

Journal: :Pediatrics 2014
Benedicte Eneman Djalila Mekahli Marie-Pierre Audrezet Evelyne Lerut Rita Van Damme-Lombaerts Lambertus Van den Heuvel Elena Levtchenko

We report a case of Denys-Drash syndrome (DDS) in a 3-month-old girl presenting with bilateral renal cortical cysts mimicking polycystic kidney disease. Genetic analysis revealed a de novo heterozygous missense mutation c.1186G>A (p.Asp396Asn) in the WT1 gene, confirming the diagnosis of DDS. Because multiple renal cysts have never been reported in DDS, we explored several genes responsible for...

Journal: :Molecular biology and evolution 2003
Marianna Rodova M Rafiq Islam Kenneth R Peterson James P Calvet

The last intron of the PKD1 gene (intron 45) was found to have exceptionally high sequence conservation across four mammalian species: human, mouse, rat, and dog. This conservation did not extend to the comparable intron in pufferfish. Pairwise comparisons for intron 45 showed 91% identity (human vs. dog) to 100% identity (mouse vs. rat) for an average for all four species of 94% identity. In c...

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