نتایج جستجو برای: pkd1 gene

تعداد نتایج: 1141754  

Journal: :Journal of medical genetics 1995
S E Pound S Thomas A Snarey A M Macnicol M L Watson P M Pignatelli A M Frischauf P C Harris A F Wright

Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. In addition, three unlinked (PKD2) families and two families with potential new mutation were identified.

Journal: :iranian biomedical journal 0
آتوسا حفیظی atousa hafizi سعیدرضا خاتمی saeid reza khatami حمید گله داری hamid galehdari غلامرضا شریعتی gholamreza shariati علی حسین صابری ali hossein saberi محمد حمید mohammad hamid

introduction: autosomal dominant polycystic kidney disease (adpkd) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. adpkd is genetically heterogeneous with two genes identified: pkd1 (16p13.3, 46 exons) and pkd2 (4q21, 15 exons). eighty five percent of the patients with adpkd have at least one mutation in the pkd1 gene. genetic studies have demonstrate...

2014
P. VEERAMUTHUMARI W. ISABEL

Autosomal dominant polycystic kidney disease (ADPKD) is a common disease among different population in worldwide. Mutations in the PKD1 gene on 16p13.3 are responsible for ~85% of cases of polycytic kidney disease. Until now, more than 1000 single nucleotide polymorphism (SNP) have been reported as genetic marker in different population. Hence, the study aimed to C/T polymorphism in PKD1 gene. ...

Journal: :Human molecular genetics 2013
Almira Kurbegovic Marie Trudel

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by slow progression of multiple cysts in both kidneys that lead to renal insufficiency in mid-life or later. ADPKD is associated with mutations mainly in the PKD1 gene (encoding polycystin-1 or PC1) and less frequently in the PKD2 gene (encoding polycystin-2 or PC2). To mimic naturally occurring human PKD1 mutations and gain ...

Journal: :Human molecular genetics 2009
Hester Happé Wouter N Leonhard Annemieke van der Wal Bob van de Water Irma S Lantinga-van Leeuwen Martijn H Breuning Emile de Heer Dorien J M Peters

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by large fluid-filled cysts and progressive deterioration of renal function necessitating renal replacement therapy. Previously, we generated a tamoxifen-inducible, kidney epithelium-specific Pkd1-deletion mouse model and showed that inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow o...

Journal: :Carcinogenesis 2008
Mirang Kim Hay-Ran Jang Jeong-Hwan Kim Seung-Moo Noh Kyu-Sang Song June-Sik Cho Hyun-Yong Jeong Jim C Norman Patrick T Caswell Gyeong Hoon Kang Seon-Young Kim Hyang-Sook Yoo Yong Sung Kim

Protein kinase D (PKD) 1 influences cell migration by mediating both trans-Golgi vesicle fission and integrin recycling to the cell surface. Using restriction landmark genomic scanning methods, we found that the promoter region of PKD1 was aberrantly methylated in gastric cancer cell lines. Silencing of PKD1 expression was detected in 72.7% of gastric cancer cell lines examined, and the silenci...

2015
Hamad Ali Naser Hussain Medhat Naim Mohamed Zayed Fahd Al-Mulla Elijah O Kehinde Lauren M Seaburg Jamie L Sundsbak Peter C Harris

BACKGROUND Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. He...

Journal: :Molecular and cellular biology 2006
Caroline Thivierge Almira Kurbegovic Martin Couillard Richard Guillaume Olivier Coté Marie Trudel

The pathogenetic mechanisms underlying autosomal dominant polycystic kidney disease (ADPKD) remain to be elucidated. While there is evidence that Pkd1 gene haploinsufficiency and loss of heterozygosity can cause cyst formation in mice, paradoxically high levels of Pkd1 expression have been detected in the kidneys of ADPKD patients. To determine whether Pkd1 gain of function can be a pathogeneti...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2008
Jens Fielitz Mi-Sung Kim John M Shelton Xiaoxia Qi Joseph A Hill James A Richardson Rhonda Bassel-Duby Eric N Olson

The adult heart responds to biomechanical stress and neurohormonal signaling by hypertrophic growth, accompanied by fibrosis, diminished pump function, and activation of a fetal gene program. Class II histone deacetylases (HDACs) suppress stress-dependent remodeling of the heart via their association with the MEF2 transcription factor, an activator of heart disease. Protein kinase D (PKD) is a ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید