نتایج جستجو برای: polycystic kidney diseases pkd

تعداد نتایج: 1000149  

2013
Fruzsina Kotsis Christopher Boehlke E. Wolfgang Kuehn

Since the discovery that proteins mutated in different forms of polycystic kidney disease (PKD) are tightly associated with primary cilia, strong efforts have been made to define the role of this organelle in the pathogenesis of cyst formation. Cilia are filiform microtubular structures, anchored in the basal body and extending from the apical membrane into the tubular lumen. Early work establi...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2008
Terrence Town Joshua J Breunig Matthew R Sarkisian Charalampos Spilianakis Albert E Ayoub Xiuxin Liu Anthony F Ferrandino A Rachel Gallagher Ming O Li Pasko Rakic Richard A Flavell

Cilia are present on nearly all cell types in mammals and perform remarkably diverse functions. However, the mechanisms underlying ciliogenesis are unclear. Here, we cloned a previously uncharacterized highly conserved gene, stumpy, located on mouse chromosome 7. Stumpy was ubiquitously expressed, and conditional loss in mouse resulted in complete penetrance of perinatal hydrocephalus (HC) and ...

2017
Sachin Hajarnis Ronak Lakhia Matanel Yheskel Darren Williams Mehran Sorourian Xueqing Liu Karam Aboudehen Shanrong Zhang Kara Kersjes Ryan Galasso Jian Li Vivek Kaimal Steven Lockton Scott Davis Andrea Flaten Joshua A Johnson William L Holland Christine M Kusminski Philipp E Scherer Peter C Harris Marie Trudel Darren P Wallace Peter Igarashi Edmund C Lee John R Androsavich Vishal Patel

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent genetic cause of renal failure. Here we identify miR-17 as a target for the treatment of ADPKD. We report that miR-17 is induced in kidney cysts of mouse and human ADPKD. Genetic deletion of the miR-17∼92 cluster inhibits cyst proliferation and PKD progression in four orthologous, including two long-lived, mouse models of...

Journal: :Jurnal Ilmiah Kedokteran Wijaya Kusuma 2021

The hereditary forms of polycystic kidney disease autosomal dominant PKD (ADPKD) and recessive (ARPKD) are the main forms. ADPKD is a multifactorial disorder characterized by bilateral renal cysts commonly affects adult patients. most common extrarenal manifestations liver often incidental findings clinically insignificant. A case report has been reported with in kidneys autoimmune hemolytic an...

Journal: :European Journal of Medical Genetics 2021

The development of a polycystic liver is characteristic the monogenic disorders: autosomal dominant kidney disease (ADPKD), recessive (ARPKD), and (ADPLD). Respectively two one genes mainly cause ADPKD ARPKD. In contrast, ADPLD caused by at least six different which combined do not even explain in over half population. Genetic testing performed to confirm likelihood developing PKD if renal ther...

Journal: :The EMBO journal 1999
M Bycroft A Bateman J Clarke S J Hamill R Sandford R L Thomas C Chothia

Most cases of autosomal dominant polycystic kidney disease (ADPKD) are the result of mutations in the PKD1 gene. The PKD1 gene codes for a large cell-surface glycoprotein, polycystin-1, of unknown function, which, based on its predicted domain structure, may be involved in protein-protein and protein-carbohydrate interactions. Approximately 30% of polycystin-1 consists of 16 copies of a novel p...

Journal: :Physiological genomics 1999
O Iakoubova H Dushkin L Pacella D R Beier

Using a cross between C57BL/6J and FVB/N mice, we have confirmed the localization on chromosome 1 of a modifying locus that affects the severity of polycystic kidney disease (PKD) in the juvenile cystic kidney (jck) mouse. Despite the highly significant contribution of this locus in F2 progeny of a cross between C57BL/6J and DBA/2J mice (4), a series of congenic strains carrying regions of chro...

Journal: :Birth defects research. Part C, Embryo today : reviews 2014
Liwei Huang Joshua H Lipschutz

In the past decade, cilia have been found to play important roles in renal cystogenesis. Many genes, such as PKD1 and PKD2 which, when mutated, cause autosomal dominant polycystic kidney disease (ADPKD), have been found to localize to primary cilia. The cilium functions as a sensor to transmit extracellular signals into the cell. Abnormal cilia structure and function are associated with the dev...

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...

Journal: :Developmental biology 2000
L Ostrom M J Tang P Gruss G R Dressler

The murine cpk mouse develops a rapid-onset polycystic kidney disease (PKD) with many similarities to human PKD. During kidney development, the transcription factor Pax2 is required for the specification and differentiation of the renal epithelium. In humans, Pax2 is also expressed in juvenile cystic kidneys where it correlates with cell proliferation. In this report, Pax2 expression is demonst...

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