Literature DB >> 12750797

[Molecular diagnostics of renal diseases with underlying genetic predisposition].

K Junker1.   

Abstract

The genetic basis for dysplasia and tumors of the kidney has increasingly become the subject of cytogenetic and molecular genetic investigations over the last decade. For that reason, it is now possible to define the risk of disease recurrence more precisely in families with kidney diseases caused by genetic alterations. The relevant genes and the mutations have been identified for most of these diseases and genetic diagnostics are possible. However, it is necessary to evaluate in each individual case whether genetic diagnostics are reasonable. This will be discussed for polycystic renal diseases, agenesis and dysplasia of the kidney, and hereditary kidney tumors.

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Year:  2003        PMID: 12750797     DOI: 10.1007/s00120-003-0348-x

Source DB:  PubMed          Journal:  Urologe A        ISSN: 0340-2592            Impact factor:   0.639


  27 in total

1.  The Rbx1 subunit of SCF and VHL E3 ubiquitin ligase activates Rub1 modification of cullins Cdc53 and Cul2.

Authors:  T Kamura; M N Conrad; Q Yan; R C Conaway; J W Conaway
Journal:  Genes Dev       Date:  1999-11-15       Impact factor: 11.361

2.  The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.

Authors:  P H Maxwell; M S Wiesener; G W Chang; S C Clifford; E C Vaux; M E Cockman; C C Wykoff; C W Pugh; E R Maher; P J Ratcliffe
Journal:  Nature       Date:  1999-05-20       Impact factor: 49.962

3.  Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.

Authors:  L Schmidt; F M Duh; F Chen; T Kishida; G Glenn; P Choyke; S W Scherer; Z Zhuang; I Lubensky; M Dean; R Allikmets; A Chidambaram; U R Bergerheim; J T Feltis; C Casadevall; A Zamarron; M Bernues; S Richard; C J Lips; M M Walther; L C Tsui; L Geil; M L Orcutt; T Stackhouse; J Lipan; L Slife; H Brauch; J Decker; G Niehans; M D Hughson; H Moch; S Storkel; M I Lerman; W M Linehan; B Zbar
Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

4.  Involvement of band 3p14 in t(3;8) hereditary renal carcinoma.

Authors:  N Wang; K L Perkins
Journal:  Cancer Genet Cytogenet       Date:  1984-04

5.  The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal.

Authors:  A Pause; S Lee; K M Lonergan; R D Klausner
Journal:  Proc Natl Acad Sci U S A       Date:  1998-02-03       Impact factor: 11.205

6.  Contralateral renal abnormalities in multicystic-dysplastic kidney disease.

Authors:  B Atiyeh; D Husmann; M Baum
Journal:  J Pediatr       Date:  1992-07       Impact factor: 4.406

7.  Reversion of deregulated expression of vascular endothelial growth factor in human renal carcinoma cells by von Hippel-Lindau tumor suppressor protein.

Authors:  G Siemeister; K Weindel; K Mohrs; B Barleon; G Martiny-Baron; D Marmé
Journal:  Cancer Res       Date:  1996-05-15       Impact factor: 12.701

8.  Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.

Authors:  K Zerres; G Mücher; L Bachner; G Deschennes; T Eggermann; H Kääriäinen; M Knapp; T Lennert; J Misselwitz; K E von Mühlendahl
Journal:  Nat Genet       Date:  1994-07       Impact factor: 38.330

9.  Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.

Authors:  Luiz F Onuchic; Michal Mrug; Xiaoying Hou; Thomas Eggermann; Carsten Bergmann; Klaus Zerres; Ellis D Avner; Laszlo Furu; Stefan Somlo; Yasuyuki Nagasawa; Gregory G Germino; Lisa M Guay-Woodford
Journal:  Am J Med Genet       Date:  2002-07-15

10.  Familial renal oncocytoma: clinicopathological study of 5 families.

Authors:  G Weirich; G Glenn; K Junker; M Merino; S Störkel; I Lubensky; P Choyke; S Pack; M Amin; M M Walther; W M Linehan; B Zbar
Journal:  J Urol       Date:  1998-08       Impact factor: 7.450

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