دورية أكاديمية
أعرض في EDS

Nephronophthisis: disease mechanisms of a ciliopathy.

التفاصيل البيبلوغرافية
العنوان: Nephronophthisis: disease mechanisms of a ciliopathy.
المؤلفون: Hildebrandt F; Department of Pediatrics, Howard Hughes Medical Institute, University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-5646, USA. fhilde@umich.edu, Attanasio M, Otto E
المصدر: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2009 Jan; Vol. 20 (1), pp. 23-35. Date of Electronic Publication: 2008 Dec 31.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
اللغة: English
بيانات الدورية: Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE
أسماء مطبوعة: Publication: 2023- : Hagerstown, MD : Wolters Kluwer Health, on behalf of the American Society of Nephrology
Original Publication: Baltimore, MD : Williams & Wilkins, c1990-
مواضيع طبية MeSH: Cilia/*pathology , Kidney Diseases, Cystic/*etiology, Adaptor Proteins, Signal Transducing/genetics ; Calmodulin-Binding Proteins/genetics ; Cell Polarity ; Cytoskeletal Proteins ; Humans ; Kidney Diseases, Cystic/pathology ; Kinesins/genetics ; Kruppel-Like Transcription Factors/physiology ; Liver Cirrhosis/etiology ; Liver Cirrhosis/genetics ; Membrane Proteins/genetics ; Proteins/genetics ; Retinal Degeneration/etiology ; Retinal Degeneration/genetics ; Situs Inversus/etiology ; Situs Inversus/genetics ; Transcription Factors/physiology
مستخلص: Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." The theory is based on the finding that all proteins mutated in cystic kidney diseases of humans or animal models are expressed in primary cilia or centrosomes of renal epithelial cells. Primary cilia are sensory organelles that connect mechanosensory, visual, and other stimuli to mechanisms of epithelial cell polarity and cell-cycle control. Mutations in NPHP genes cause defects in signaling mechanisms that involve the noncanonical Wnt signaling pathway and the sonic hedgehog signaling pathway, resulting in defects of planar cell polarity and tissue maintenance. The ciliary theory explains the multiple organ involvement in NPHP, which includes retinal degeneration, cerebellar hypoplasia, liver fibrosis, situs inversus, and mental retardation. Positional cloning of dozens of unknown genes that cause NPHP will elucidate further signaling mechanisms involved. Nephrocystins are highly conserved in evolution, thereby allowing the use of animal models to develop future therapeutic approaches.
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معلومات مُعتمدة: R01-DK064614 United States DK NIDDK NIH HHS; R01-DK68306 United States DK NIDDK NIH HHS; R01 DK068306 United States DK NIDDK NIH HHS; R01 DK064614 United States DK NIDDK NIH HHS; United States HHMI Howard Hughes Medical Institute; R01-DK69274 United States DK NIDDK NIH HHS; R01 DK069274 United States DK NIDDK NIH HHS
فهرسة مساهمة: Indexing Agency: NLM Local ID #: HHMIMS166563.
المشرفين على المادة: 0 (Adaptor Proteins, Signal Transducing)
0 (Calmodulin-Binding Proteins)
0 (Cytoskeletal Proteins)
0 (GLIS2 protein, human)
0 (INVS protein, human)
0 (IQCB1 protein, human)
0 (Kruppel-Like Transcription Factors)
0 (Membrane Proteins)
0 (NPHP1 protein, human)
0 (NPHP4 protein, human)
0 (Proteins)
0 (Transcription Factors)
EC 3.6.1.- (nephrocystin-3, human)
EC 3.6.4.4 (Kinesins)
تواريخ الأحداث: Date Created: 20090102 Date Completed: 20090123 Latest Revision: 20240312
رمز التحديث: 20240312
مُعرف محوري في PubMed: PMC2807379
DOI: 10.1681/ASN.2008050456
PMID: 19118152
قاعدة البيانات: MEDLINE
الوصف
تدمد:1533-3450
DOI:10.1681/ASN.2008050456