PubMed Latest Articles
This section contains a feed from PubMed with recent papers on 'ciliopathy', with hyperlinked titles.
When you are on the PubMed site, you can search using any cilia and ciliopathy-related keywords or terms.
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19 September 2019
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Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1.
Related Articles Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1.
Int J Mol Epidemiol Genet. 2019;10(4):53-58
Authors: Chen H, Lin H, Yue Z, Wang H, Yang J, Sun L
Abstract
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NPHP1 is the most prevalent genetic factor in the development of juvenile nephronophthisis (NPHP). In our previous study, NPHP1 homozygous point mutations were detected by Sanger sequencing in three cases from two -
Periostin overexpression in collecting ducts accelerates renal cyst growth and fibrosis in polycystic kidney disease.
Related Articles Periostin overexpression in collecting ducts accelerates renal cyst growth and fibrosis in polycystic kidney disease.
Am J Physiol Renal Physiol. 2018 12 01;315(6):F1695-F1707
Authors: Raman A, Parnell SC, Zhang Y, Reif GA, Dai Y, Khanna A, Daniel E, White C, Vivian JL, Wallace DP
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Arginine reprogramming in ADPKD results in arginine-dependent cystogenesis.
Related Articles Arginine reprogramming in ADPKD results in arginine-dependent cystogenesis.
Am J Physiol Renal Physiol. 2018 12 01;315(6):F1855-F1868
Authors: Trott JF, Hwang VJ, Ishimaru T, Chmiel KJ, Zhou JX, Shim K, Stewart BJ, Mahjoub MR, Jen KY, Barupal DK, Li X, Weiss RH
Abstract
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A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.
Related Articles A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan.
J Am Soc Nephrol. 2018 10;29(10):2458-2470
Authors: Chebib FT, Perrone RD, Chapman AB, Dahl NK, Harris PC, Mrug M, Mustafa RA, Rastogi A, Watnick T, Yu ASL, Torres VE
Abstract
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In the past, the treatment of autosomal dominant polycystic kidney disease (ADPKD) has -
Mcp1 Promotes Macrophage-Dependent Cyst Expansion in Autosomal Dominant Polycystic Kidney Disease.
Related Articles Mcp1 Promotes Macrophage-Dependent Cyst Expansion in Autosomal Dominant Polycystic Kidney Disease.
J Am Soc Nephrol. 2018 10;29(10):2471-2481
Authors: Cassini MF, Kakade VR, Kurtz E, Sulkowski P, Glazer P, Torres R, Somlo S, Cantley LG
Abstract
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BACKGROUND: In patients with autosomal dominant polycystic kidney disease (ADPKD), most of whom -
Hereditary Kidney Disease: All Family Members Are Affected.
Related Articles Hereditary Kidney Disease: All Family Members Are Affected.
J Am Soc Nephrol. 2018 10;29(10):2451-2452
Authors: Falke RM, Levey AS
PMID: 30206142 [PubMed - indexed for MEDLINE]
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Human-Specific Abnormal Alternative Splicing of Wild-Type PKD1 Induces Premature Termination of Polycystin-1.
Related Articles Human-Specific Abnormal Alternative Splicing of Wild-Type PKD1 Induces Premature Termination of Polycystin-1.
J Am Soc Nephrol. 2018 10;29(10):2482-2492
Authors: Lea WA, Parnell SC, Wallace DP, Calvet JP, Zelenchuk LV, Alvarez NS, Ward CJ
Abstract
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BACKGROUND: The major form of autosomal dominant polycystic kidney disease is caused by -
Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
Related Articles Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
J Am Soc Nephrol. 2018 10;29(10):2593-2600
Authors: Lanktree MB, Haghighi A, Guiard E, Iliuta IA, Song X, Harris PC, Paterson AD, Pei Y
Abstract
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BACKGROUND: Estimating the prevalence of autosomal dominant polycystic kidney disease (ADPKD) is challenging -
Early cardiovascular manifestations in children and adolescents with autosomal dominant polycystic kidney disease: a single center study.
Related Articles Early cardiovascular manifestations in children and adolescents with autosomal dominant polycystic kidney disease: a single center study.
Pediatr Nephrol. 2018 09;33(9):1513-1521
Authors: Karava V, Benzouid C, Hogan J, Dossier C, Denjean AP, Deschênes G
Abstract
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BACKGROUND: This study aims to describe the cardiovascular manifestations in children with autosomal -
Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease.
Related Articles Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease.
Sci Rep. 2018 02 20;8(1):3340
Authors: Idowu J, Home T, Patel N, Magenheimer B, Tran PV, Maser RL, Ward CJ, Calvet JP, Wallace DP, Sharma M
Abstract
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Polycystic kidney disease (PKD) is a genetic disorder characterized -
Evidence for genetic anticipation in vonHippel-Lindau syndrome.
Related Articles Evidence for genetic anticipation in vonHippel-Lindau syndrome.
J Med Genet. 2018 06;55(6):395-402
Authors: Aronoff L, Malkin D, van Engelen K, Gallinger B, Wasserman J, Kim RH, Villani A, Meyn MS, Druker H
Abstract
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BACKGROUND: von Hippel-Lindau (vHL) syndrome is a rare autosomal-dominant disorder that confers a lifelong risk for developing both