نتایج جستجو برای: polycystic kidney diseases pkd
تعداد نتایج: 1000149 فیلتر نتایج به سال:
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...
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 ...
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...
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...
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...
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...
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...
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...
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...
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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