Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function
نویسندگان
چکیده
منابع مشابه
Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function
BACKGROUND Primary cilia are membrane-bound microtubule-based protuberances of the cell membrane projecting to the extracellular environment. While little attention was paid to this subcellular structure over a long time, recent research has highlighted multiple cellular functions of primary cilia and has brought cilia to the focus of medical and cell biological research. FINDINGS Cilia are n...
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Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (...
متن کاملORE CURRICULUM IN NEPHROLOGY Cystic and Inherited Kidney Diseases
● Mutations in the polycystic kidney disease (PKD)1 gene account for approximately 85% of affected families.3 ● The PKD1 gene is located on the short arm of chromosome 16 (16p.3.3). PKD1 codes for a 4,304-amino-acid protein (polycystin 1)2 with as yet undefined function but interacts with polycystin 2 and is involved in cell cycle regulation and intracellular calcium transport. Polycystin 1 loc...
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At least 10% of adults and nearly all children who receive renal-replacement therapy have an inherited kidney disease. These patients rarely die when their disease progresses and can remain alive for many years because of advances in organ-replacement therapy. However, these disorders substantially decrease their quality of life and have a large effect on health-care systems. Since the kidneys ...
متن کاملCystic kidney diseases: learning from animal models.
Renal tubular cysts arise in several inherited human disorders which include autosomal dominant polycystic kidney disease (ADPKD), as well as rarer disorders such as autosomal recessive polycystic kidney disease (ARPKD) nephronophthisis and medullary cystic kidney. Despite their genetic, clinical and histopathological heterogeneity, all these diseases involve a dilation of tubules leading to cy...
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ژورنال
عنوان ژورنال: Molecular and Cellular Pediatrics
سال: 2015
ISSN: 2194-7791
DOI: 10.1186/s40348-015-0019-1