标题
Cystic kidney diseases: many ways to form a cyst
作者
关键词
Renal cysts, Primary cilia, Centrosomes, Ciliopathies
出版物
PEDIATRIC NEPHROLOGY
Volume 28, Issue 1, Pages 33-49
出版商
Springer Nature
发表日期
2012-06-27
DOI
10.1007/s00467-012-2221-x
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone
- (2011) Lijia Huang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
- (2011) Liyun Sang et al. CELL
- Down-regulation of PKHD1 induces cell apoptosis through PI3K and NF-κB pathways
- (2011) Liping Sun et al. EXPERIMENTAL CELL RESEARCH
- MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
- (2011) Corey L. Williams et al. JOURNAL OF CELL BIOLOGY
- Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease
- (2011) C. Bergmann et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies
- (2011) Moumita Chaki et al. KIDNEY INTERNATIONAL
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
- (2011) Francesc R Garcia-Gonzalo et al. NATURE GENETICS
- Mechanism-Based Therapeutics for Autosomal Dominant Polycystic Kidney Disease: Recent Progress and Future Prospects
- (2011) Ming-Yang Chang et al. NEPHRON CLINICAL PRACTICE
- Ciliopathies
- (2011) Friedhelm Hildebrandt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases
- (2010) L. Heidet et al. Clinical Journal of the American Society of Nephrology
- A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes
- (2010) Aurélie Giamarchi et al. EMBO JOURNAL
- Novel targets for the treatment of autosomal dominant polycystic kidney disease
- (2010) Franck A Belibi et al. EXPERT OPINION ON INVESTIGATIONAL DRUGS
- Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
- (2010) Frank Zaucke et al. HUMAN MOLECULAR GENETICS
- The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence
- (2010) John A. Follit et al. JOURNAL OF CELL BIOLOGY
- Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
- (2010) E. A. Otto et al. JOURNAL OF MEDICAL GENETICS
- Aberrant Regulation of Planar Cell Polarity in Polycystic Kidney Disease
- (2010) A. Luyten et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- The mTOR Pathway Is Activated in Human Autosomal-Recessive Polycystic Kidney Disease
- (2010) Jan Ulrich Becker et al. KIDNEY & BLOOD PRESSURE RESEARCH
- Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- (2010) Edgar A Otto et al. NATURE GENETICS
- Practical Genetics for Autosomal Dominant Polycystic Kidney Disease
- (2010) York Pei NEPHRON CLINICAL PRACTICE
- Sirolimus and Kidney Growth in Autosomal Dominant Polycystic Kidney Disease
- (2010) Andreas L. Serra et al. NEW ENGLAND JOURNAL OF MEDICINE
- Everolimus in Patients with Autosomal Dominant Polycystic Kidney Disease
- (2010) Gerd Walz et al. NEW ENGLAND JOURNAL OF MEDICINE
- Glomerulocystic kidney disease
- (2010) John J. Bissler et al. PEDIATRIC NEPHROLOGY
- Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms
- (2010) Djalila Mekahli et al. PEDIATRIC NEPHROLOGY
- Nephrocystin-1 Forms a Complex with Polycystin-1 via a Polyproline Motif/SH3 Domain Interaction and Regulates the Apoptotic Response in Mammals
- (2010) Claas Wodarczyk et al. PLoS One
- Impact of Mammalian Target of Rapamycin Inhibition on Autosomal-Dominant Polycystic Kidney Disease
- (2010) R.P. Wüthrich et al. TRANSPLANTATION PROCEEDINGS
- Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
- (2009) Martina Živná et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Liver and kidney disease in ciliopathies
- (2009) Meral Gunay-Aygun AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6
- (2009) Marion Delous et al. HUMAN MOLECULAR GENETICS
- Loss of Oriented Cell Division Does not Initiate Cyst Formation
- (2009) S. Nishio et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting
- (2009) S. Adalat et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Mutations of NPHP2 and NPHP3 in infantile nephronophthisis
- (2009) Kálmán Tory et al. KIDNEY INTERNATIONAL
- Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
- (2009) Sandro Rossetti et al. KIDNEY INTERNATIONAL
- Autosomal dominant polycystic kidney disease: the last 3 years
- (2009) Vicente E. Torres et al. KIDNEY INTERNATIONAL
- Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
- (2009) Erick Denamur et al. KIDNEY INTERNATIONAL
- Wnt9b signaling regulates planar cell polarity and kidney tubule morphogenesis
- (2009) Courtney M Karner et al. NATURE GENETICS
- DNA Testing for Live Kidney Donors at Risk for Autosomal Dominant Polycystic Kidney Disease
- (2009) Edmund Huang et al. TRANSPLANTATION
- Nephronophthisis
- (2008) Roslyn J Simms et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia
- (2008) Vishal Patel et al. HUMAN MOLECULAR GENETICS
- The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway
- (2008) Tiffiney R. Hartman et al. HUMAN MOLECULAR GENETICS
- Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function
- (2008) I. Kim et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Unified Criteria for Ultrasonographic Diagnosis of ADPKD
- (2008) Y. Pei et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Increased left ventricular mass in children with autosomal dominant polycystic kidney disease and borderline hypertension
- (2008) Melissa A. Cadnapaphornchai et al. KIDNEY INTERNATIONAL
- Nephronophthisis
- (2008) Rémi Salomon et al. PEDIATRIC NEPHROLOGY
- Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease: Utility and Limitations
- (2007) X. Zhao et al. Clinical Journal of the American Society of Nephrology
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