Literature DB >> 7607660

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family.

S de Almeida1, E de Almeida, D Peters, J R Pinto, I Távora, J Lavinha, M Breuning, M M Prata.   

Abstract

Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 and chromosome 4 markers in a large Portuguese family, indicating that a third PKD locus is involved in the development of the disease.

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Year:  1995        PMID： 7607660     DOI： 10.1007/BF00214191

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  26 in total

Review 1.  Autosomal dominant polycystic kidney disease--more than a renal disease.

Authors:  P A Gabow
Journal:  Am J Kidney Dis       Date:  1990-11       Impact factor: 8.860

2.  Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.

Authors:  S Somlo; B Wirth; G G Germino; D Weinstat-Saslow; G A Gillespie; H Himmelbauer; L Steevens; P Coucke; P Willems; L Bachner
Journal:  Genomics       Date:  1992-05       Impact factor: 5.736

3.  Genetic and physical maps of human chromosome 4 based on dinucleotide repeats.

Authors:  K A Mills; K H Buetow; Y Xu; J L Weber; M R Altherr; J J Wasmuth; J C Murray
Journal:  Genomics       Date:  1992-10       Impact factor: 5.736

4.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

5.  Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 pseudo-gene (HBAP1).

Authors:  F Fougerousse; R Meloni; C Roudaut; J S Beckmann
Journal:  Nucleic Acids Res       Date:  1992-03-11       Impact factor: 16.971

6.  Genetic heterogeneity of polycystic kidney disease in Europe.

Authors:  D J Peters; L A Sandkuijl
Journal:  Contrib Nephrol       Date:  1992       Impact factor: 1.580

7.  Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16.

Authors:  A D Thompson; Y Shen; K Holman; G R Sutherland; D F Callen; R I Richards
Journal:  Genomics       Date:  1992-06       Impact factor: 5.736

8.  Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling.

Authors:  J C Bear; P McManamon; J Morgan; R H Payne; H Lewis; M H Gault; D N Churchill
Journal:  Am J Med Genet       Date:  1984-05

9.  Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family.

Authors:  M C Vinet; C Dodé; O Pascal; N Monnier; J Rochette; L Bachner
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

10.  Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers.

Authors:  M H Breuning; S T Reeders; H Brunner; J W Ijdo; J J Saris; A Verwest; G J van Ommen; P L Pearson
Journal:  Lancet       Date:  1987-12-12       Impact factor: 79.321
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  21 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.  A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

Authors:  B Veldhuisen; J J Saris; S de Haij; T Hayashi; D M Reynolds; T Mochizuki; R Elles; R Fossdal; N Bogdanova; M A van Dijk; E Coto; D Ravine; S Nørby; C Verellen-Dumoulin; M H Breuning; S Somlo; D J Peters
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

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

Review 4.  Molecular diagnostics for autosomal dominant polycystic kidney disease.

Authors:  Peter C Harris; Sandro Rossetti
Journal:  Nat Rev Nephrol       Date:  2010-02-23       Impact factor: 28.314

Review 5.  An approach to cystic kidney diseases: the clinician's view.

Authors:  Christine E Kurschat; Roman-Ulrich Müller; Mareike Franke; David Maintz; Bernhard Schermer; Thomas Benzing
Journal:  Nat Rev Nephrol       Date:  2014-09-30       Impact factor: 28.314

6.  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

7.  Differential rescue of the renal and hepatic disease in an autosomal recessive polycystic kidney disease mouse mutant. A new model to study the liver lesion.

Authors:  B K Yoder; W G Richards; C Sommardahl; W E Sweeney; E J Michaud; J E Wilkinson; E D Avner; R P Woychik
Journal:  Am J Pathol       Date:  1997-06       Impact factor: 4.307

8.  Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

Authors:  B Peral; V Gamble; C Strong; A C Ong; J Sloane-Stanley; K Zerres; C G Winearls; P C Harris
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

Review 9.  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 10.  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
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