Literature DB >> 9158217

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene.

A E Turco1, M Clementi, S Rossetti, R Tenconi, P F Pignatti.   

Abstract

We describe a family with autosomal dominant polycystic kidney disease in which molecular typing with closely linked markers for the PKD1 and PKD2 genes indicated absence of linkage. Thus, a third still unknown locus appears likely to be involved in disease development. This is the fourth "PKD3-linked" family described to date and the first from Italy.

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Year:  1996        PMID： 9158217     DOI： 10.1016/s0272-6386(96)90261-9

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN： 0272-6386            Impact factor:   8.860


  16 in total

1.  A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.

Authors:  M Ariza; V Alvarez; R Marín; S Aguado; C López-Larrea; J Alvarez; M J Menéndez; E Coto
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Polycystin-1 Assembles With Kv Channels to Govern Cardiomyocyte Repolarization and Contractility.

Authors:  Francisco Altamirano; Gabriele G Schiattarella; Kristin M French; Soo Young Kim; Felipe Engelberger; Sergii Kyrychenko; Elisa Villalobos; Dan Tong; Jay W Schneider; Cesar A Ramirez-Sarmiento; Sergio Lavandero; Thomas G Gillette; Joseph A Hill
Journal:  Circulation       Date:  2019-06-21       Impact factor: 29.690

Review 3.  Diagnosis and management of childhood polycystic kidney disease.

Authors:  William E Sweeney; Ellis D Avner
Journal:  Pediatr Nephrol       Date:  2010-10-29       Impact factor: 3.714

4.  Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

Authors:  Y Pei; A D Paterson; K R Wang; N He; D Hefferton; T Watnick; G G Germino; P Parfrey; S Somlo; P St George-Hyslop
Journal:  Am J Hum Genet       Date:  2001-01-10       Impact factor: 11.025

Review 5.  Determinants of renal disease variability in ADPKD.

Authors:  Peter C Harris; Sandro Rossetti
Journal:  Adv Chronic Kidney Dis       Date:  2010-03       Impact factor: 3.620

Review 6.  Diagnosis and screening of autosomal dominant polycystic kidney disease.

Authors:  York Pei; Terry Watnick
Journal:  Adv Chronic Kidney Dis       Date:  2010-03       Impact factor: 3.620

7.  Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins.

Authors:  Y Huan; J van Adelsberg
Journal:  J Clin Invest       Date:  1999-11       Impact factor: 14.808

Review 8.  Recent advances in understanding the pathogenesis of polycystic kidney disease: therapeutic implications.

Authors:  Benjamin D Cowley
Journal:  Drugs       Date:  2004       Impact factor: 9.546

9.  Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.

Authors:  Filip Fencl; Jan Janda; Kveta Bláhová; Zdenek Hríbal; Jitka Stekrová; Alena Puchmajerová; Tomás Seeman
Journal:  Pediatr Nephrol       Date:  2009-02-05       Impact factor: 3.714

Review 10.  Cystic kidney diseases: many ways to form a cyst.

Authors:  Hannah Loftus; Albert C M Ong
Journal:  Pediatr Nephrol       Date:  2012-06-27       Impact factor: 3.714
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