CILIOPATHIES: CURRENT CONCEPTS
- Authors: - -1
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- Issue: No 1 (2011)
- Pages: 23-29
- Section: Articles
- URL: https://journals.eco-vector.com/2075-3594/article/view/245926
- ID: 245926
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Abstract
State-of-art data about ciliopathies with special emphasis on renal disease (cysts) are presented
References
- Badano J.L., Mitsuma N., Beale P., Katsan S. The ciliopathies: An Emerging Class of Human Genetic Disorders. Annu. Rev. Genomics, Human Genet. 2006, 7:125-148.
- Ostrowski I.F., Blackborn K.,Radde K.M. et al.Proteomic analysis of human cilia: identification of novel components. Mol Cell Proteomics, 2002: 1; 451-465.
- Cordit K., Acanstad P., Singla V. et al. Vertebrate smoothened functions at the primary cilium. Nature 2005; 437: 1018-1021
- Teilmann S., ByscovA, Pedersen P. et al. Localization of transient receptor potential ion channels in primary and motile cilia of the female murine reproductive organs. Mol Reprod Dev 2005; 71: 444-452.
- Maycraft C, Banizs B,Aydin-Son Y. et al. Gli 2 и Gli 3 localize tocilia and require the intraflagellar transport proteins polaris for processing and function. Plos Genet 2005; 1: e53.
- Розинова Н.Н., Богорад А.Е. Синдром Картагенера у детей. М. «Династия»,2007, 78 с.
- Tobin J.L., Beales P.L. The nonmotile ciliopathies. Gen Med 2009; 11(6): 386-402
- Avni F.,E.,Hall M. Renal cystic diseases in children: new concept. Pediatr Radiol 2010; 40(6), 936-946.
- Ausley S, BadanoJ., Blacque О. et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003; 425: 628-633.
- Eley I., Yates L.M., Goodship J.A. Cilia and disease. Curr Opin Genet Dev., 2005;15: 308-314
- D'Angelol A., Franco B. The dynamic cilium in human diseases. PathoGenetics, 2009; 2: 3-23
- Scholey J.M.Intraflagellar transport Annu Rev Cell Dev Biol 2003; 19: 423-443
- Geremek M., Witt M.,2004. Primary ciliary dyskinesis: genes, andidate genes and chromosomal regions. J Appl Genet, 2004; 45(3):347-361
- Mahjoub M.R., Trapp M.L., Quarmby I.M. NIMA-related kinases defective in murine models of polycystic kidney disease localize to primary cilia and centrosomes. J Am Soc Nephrol. 2005:16; 3485-3489
- McGrath J., Somlo S., Makovo S. et al. Two populations of node monocilia iniciate left-right assimmetry in the mouse. Cell 2003: 114: 61-73
- Nonaka S., Shiretony H., Sanjoh Y. et al. Determination of left-right patterning of the mouse embrion by artificial modal flow. Nature 2002; 418: 96-99
- Pazour C., Witman G.B. The vertebrale primary cilium is a sensory organelle. Curr Op.Cell Biol. 2003; 15: 105-110
- Singa V., Reiter J.F., The primary cilium as a cells antenna: signaling as a sensory organelle. Science. 2006; 313(5797): 629-633
- Rodat-Despoi I., Delmas P. Ciliar functions in the nephron., Pflugers Arch 2009; 458(1): 179-187.
- Bisgrove B, Yost H., The roles of cilia in developmental disorders and disease. Development 2006; 133: 4131-4149
- Siroky B.J., Guay-Woodford L.M., Renal cystic disease : the role of the primary cilium/centrosome complex in pathogenesis. Adv.Chronic Kidney Dis 2006; 13(2): 131-137
- Watnick T., Germino G. From cilia to cyst. Nat Genet 2003; 34: 355-356
- Hildebrandt F., Attanasio M., Otto E., Nephronophthisis: disease mechanisms of Ciliopathy. J Am Soc Nephrol 2009; 20(1): 23-35
- Salomon R., Sonier S., Niaudet P., Nephronophthisis. Pediatr Nephrol 2009; 24(12): 2333-2344
- Hildebrandt F., Otto E. Cilia and centrosomes, a unifying concept for cystic kidney disease? Nat Rev Genet 2005; 6: 928-940.
- Deltas C., Papagregoriou G. Cystic diseases of the kidney: molecular biology and genetic. Arch Path Lab Med, 2010(Apr); 134(4):569-582.
- Fliegauf M., Benzing T., Omran H., When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol. 2007; 8: 880-893
- Kleiknecht C. The inheritance of nephronophthisis. I:n Spitzer A., Avner ED (ed.) Inheritance of Kidney and Urinary Tract diseases. Vol 9. Boston. Kluwer Academic Publishers. 1989, 464p.
- Avner E.D. Medullary cystic disease and medullary sponge kidney. In Greenberg A. ed. Primer on kidney diseases. Boston . Academic Press 1994.
- Otto E., Trapp M., Schultheiss U. et al. NEK 8 Mutations affect ciliary and centrasomal localization and may cause nephronophthisis. J. Am. Soc. Nephrol. 2008; 19(3): 587-592
- Bergmann C., Fliegauf M., Bruchle N. et al. Loss of nephrocystin-3 function can cause embryonic lethality, meckel-gubler-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 2008; 82(4): 959-970
- Pazour G.J. Intraflagellar transport and cilia-dependent renal diseases: The Ciliary hypothesis of polycystic kidney diseases. J Am Soc Nephrol 2004; 15: 2528-2536.
- Voder B.K. Role of primary Cilia in the pathogenesis of Polycystic Kidney disease. J Am Soc Nephrol 2007; 18: 1381-1388.
- Кутырина И.М. Поликистоз почек. В: Тареев И.Е. (ред.) 2000, М. Медицина, 437-443
- Fisher E., Legue E., Doyen A. et al. Defective planar cell polarity in polycystic kidney disease. Nat Genet 2006; 38: 21-23
- Grimm D., Cai Y, Chanvet V. et al. Polycystin-1 distribution is modulated by polycystin-2 expression in mammalion cells. J Biol Chem 2003; 278: 36786-36793
- Patel V., Chowdhury R., Igarashi P. Advances in the Pathogenesis and treatment of polycystic kidney diseases. Curr Opin Nephrol Hypertens. 2009; 18(2): 99-109
- Roitbak T., Ward G., Harris P.A. Polycystin 1 multiprotein complex is disrupted in polycystic kidney disease cells. Mol Biol Cell 2004; 15: 1134-1146
- Igarashi P., Somlo S. Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol 2002; 13: 2384-2398.
- Chapman A Autosomal dominant polycystic kidney disease: time for a change? J Am Soc Nephrol 2007; 18: 1399-1407.
- Конькова Н.С., Длин В.В., Игнатова М.С. и др. Влияние терапии эналаприлом на динамику кист у детей с ацтосомно-доминантным вариантом поликистозной болезни в зависимости от возраста. Материалы IX Российского конгресса «Инновационные технологии в педиатрии и детской хирургии» 19-21 октября 2010, 232-233.