Literature DB >> 17973957

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation.

A Connor1, P W Lunt, C Dolling, Y Patel, A L Meredith, A Gardner, N K Hamilton, C R K Dudley.   

Abstract

Patients with end-stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney disease (ADPKD) receive fewer living-related kidney (LRK) transplants than other groups with ESRD. This relates to the difficulties in excluding the disease in potential donors. We report a case which highlights these difficulties and, by discovery of mosaicism for a new mutation, illustrates the role of clinical and molecular genetic resources in assessing young related kidney donors for patients with ADPKD.

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Year:  2007        PMID： 17973957     DOI： 10.1111/j.1600-6143.2007.02030.x

Source DB:  PubMed          Journal:  Am J Transplant        ISSN： 1600-6135            Impact factor:   8.086


  19 in total

Review 1.  Autosomal dominant polycystic kidney disease: the last 3 years.

Authors:  Vicente E Torres; Peter C Harris
Journal:  Kidney Int       Date:  2009-05-20       Impact factor: 10.612

2.  Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Authors:  Katharina Hopp; Emilie Cornec-Le Gall; Sarah R Senum; Iris B A W Te Paske; Sonam Raj; Sravanthi Lavu; Saurabh Baheti; Marie E Edwards; Charles D Madsen; Christina M Heyer; Albert C M Ong; Kyongtae T Bae; Richard Fatica; Theodore I Steinman; Arlene B Chapman; Berenice Gitomer; Ronald D Perrone; Frederic F Rahbari-Oskoui; Vicente E Torres; Peter C Harris
Journal:  Kidney Int       Date:  2019-10-09       Impact factor: 10.612

Review 3.  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 4.  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

5.  Inhibition of Comt with tolcapone slows progression of polycystic kidney disease in the more severely affected PKD/Mhm (cy/+) substrain of the Hannover Sprague-Dawley rat.

Authors:  Susanne N E Boehn; Sonja Spahn; Sabine Neudecker; Andrea Keppler; Marie-Thérèse Bihoreau; Bettina Kränzlin; Priyanka Pandey; Sigrid C Hoffmann; Li Li; Vicente E Torres; Hermann-Josef Gröne; Norbert Gretz
Journal:  Nephrol Dial Transplant       Date:  2013-03-29       Impact factor: 5.992

Review 6.  Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Authors:  Emilie Cornec-Le Gall; Vicente E Torres; Peter C Harris
Journal:  J Am Soc Nephrol       Date:  2017-10-16       Impact factor: 10.121

7.  Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.

Authors:  María V Irazabal; Laureano J Rangel; Eric J Bergstralh; Sara L Osborn; Amber J Harmon; Jamie L Sundsbak; Kyongtae T Bae; Arlene B Chapman; Jared J Grantham; Michal Mrug; Marie C Hogan; Ziad M El-Zoghby; Peter C Harris; Bradley J Erickson; Bernard F King; Vicente E Torres
Journal:  J Am Soc Nephrol       Date:  2014-06-05       Impact factor: 10.121

8.  Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Authors:  Mark B Consugar; Wai C Wong; Patrick A Lundquist; Sandro Rossetti; Vickie J Kubly; Denise L Walker; Laureano J Rangel; Richard Aspinwall; W Patrick Niaudet; Seza Ozen; Albert David; Milen Velinov; Eric J Bergstralh; Kyongtae T Bae; Arlene B Chapman; Lisa M Guay-Woodford; Jared J Grantham; Vicente E Torres; Julian R Sampson; Brian D Dawson; Peter C Harris
Journal:  Kidney Int       Date:  2008-09-24       Impact factor: 10.612

9.  Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

Authors:  Katharina Hopp; Christopher J Ward; Cynthia J Hommerding; Samih H Nasr; Han-Fang Tuan; Vladimir G Gainullin; Sandro Rossetti; Vicente E Torres; Peter C Harris
Journal:  J Clin Invest       Date:  2012-10-15       Impact factor: 14.808

Review 10.  Polycystic kidney disease.

Authors:  Peter C Harris; Vicente E Torres
Journal:  Annu Rev Med       Date:  2009       Impact factor: 13.739
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