Literature DB >> 24509295

Variable presentations of rare genetic renal interstitial diseases.

Howard Trachtman1.   

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Year:  2014        PMID: 24509295      PMCID: PMC3944748          DOI: 10.2215/CJN.00180114

Source DB:  PubMed          Journal:  Clin J Am Soc Nephrol        ISSN: 1555-9041            Impact factor:   8.237


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  11 in total

1.  Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

Authors:  Anthony J Bleyer; Stanislav Kmoch; Corinne Antignac; Vicki Robins; Kendrah Kidd; John R Kelsoe; Gerald Hladik; Philip Klemmer; Stephen J Knohl; Steven J Scheinman; Nam Vo; Ann Santi; Alese Harris; Omar Canaday; Nelson Weller; Peter J Hulick; Kristen Vogel; Frederick F Rahbari-Oskoui; Jennifer Tuazon; Constantinos Deltas; Douglas Somers; Andre Megarbane; Paul L Kimmel; C John Sperati; Avi Orr-Urtreger; Shay Ben-Shachar; David A Waugh; Stella McGinn; Anthony J Bleyer; Katerina Hodanová; Petr Vylet'al; Martina Živná; Thomas C Hart; P Suzanne Hart
Journal:  Clin J Am Soc Nephrol       Date:  2014-02-07       Impact factor: 8.237

Review 2.  Strategies targeting cAMP signaling in the treatment of polycystic kidney disease.

Authors:  Vicente E Torres; Peter C Harris
Journal:  J Am Soc Nephrol       Date:  2013-12-12       Impact factor: 10.121

Review 3.  Chronic kidney disease 10 years on: what have we learned?

Authors:  Maarten W Taal
Journal:  Curr Opin Nephrol Hypertens       Date:  2012-11       Impact factor: 2.894

Review 4.  Hereditary interstitial kidney disease.

Authors:  Anthony J Bleyer; P Suzanne Hart; Stanislav Kmoch
Journal:  Semin Nephrol       Date:  2010-07       Impact factor: 5.299

5.  Uromodulin levels associate with a common UMOD variant and risk for incident CKD.

Authors:  Anna Köttgen; Shih-Jen Hwang; Martin G Larson; Jennifer E Van Eyk; Qin Fu; Emelia J Benjamin; Abbas Dehghan; Nicole L Glazer; W H Linda Kao; Tamara B Harris; Vilmundur Gudnason; Michael G Shlipak; Qiong Yang; Josef Coresh; Daniel Levy; Caroline S Fox
Journal:  J Am Soc Nephrol       Date:  2009-12-03       Impact factor: 10.121

6.  Trends in the prevalence of reduced GFR in the United States: a comparison of creatinine- and cystatin C-based estimates.

Authors:  Morgan E Grams; Stephen P Juraschek; Elizabeth Selvin; Meredith C Foster; Lesley A Inker; John H Eckfeldt; Andrew S Levey; Josef Coresh
Journal:  Am J Kidney Dis       Date:  2013-04-22       Impact factor: 8.860

7.  Multiple loci associated with indices of renal function and chronic kidney disease.

Authors:  Anna Köttgen; Nicole L Glazer; Abbas Dehghan; Shih-Jen Hwang; Ronit Katz; Man Li; Qiong Yang; Vilmundur Gudnason; Lenore J Launer; Tamara B Harris; Albert V Smith; Dan E Arking; Brad C Astor; Eric Boerwinkle; Georg B Ehret; Ingo Ruczinski; Robert B Scharpf; Yii-Der Ida Chen; Ian H de Boer; Talin Haritunians; Thomas Lumley; Mark Sarnak; David Siscovick; Emelia J Benjamin; Daniel Levy; Ashish Upadhyay; Yurii S Aulchenko; Albert Hofman; Fernando Rivadeneira; André G Uitterlinden; Cornelia M van Duijn; Daniel I Chasman; Guillaume Paré; Paul M Ridker; W H Linda Kao; Jacqueline C Witteman; Josef Coresh; Michael G Shlipak; Caroline S Fox
Journal:  Nat Genet       Date:  2009-05-10       Impact factor: 38.330

8.  Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

Authors:  Véronique Fremeaux-Bacchi; Fadi Fakhouri; Arnaud Garnier; Frank Bienaimé; Marie-Agnès Dragon-Durey; Stéphanie Ngo; Bruno Moulin; Aude Servais; François Provot; Lionel Rostaing; Stéphane Burtey; Patrick Niaudet; Georges Deschênes; Yvon Lebranchu; Julien Zuber; Chantal Loirat
Journal:  Clin J Am Soc Nephrol       Date:  2013-01-10       Impact factor: 8.237

9.  Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

Authors:  Carsten A Böger; Mathias Gorski; Man Li; Michael M Hoffmann; Chunmei Huang; Qiong Yang; Alexander Teumer; Vera Krane; Conall M O'Seaghdha; Zoltán Kutalik; H-Erich Wichmann; Thomas Haak; Eva Boes; Stefan Coassin; Josef Coresh; Barbara Kollerits; Margot Haun; Bernhard Paulweber; Anna Köttgen; Guo Li; Michael G Shlipak; Neil Powe; Shih-Jen Hwang; Abbas Dehghan; Fernando Rivadeneira; André Uitterlinden; Albert Hofman; Jacques S Beckmann; Bernhard K Krämer; Jacqueline Witteman; Murielle Bochud; David Siscovick; Rainer Rettig; Florian Kronenberg; Christoph Wanner; Ravi I Thadhani; Iris M Heid; Caroline S Fox; W H Kao
Journal:  PLoS Genet       Date:  2011-09-29       Impact factor: 5.917

10.  Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Authors:  Andrew Kirby; Andreas Gnirke; David B Jaffe; Veronika Barešová; Nathalie Pochet; Brendan Blumenstiel; Chun Ye; Daniel Aird; Christine Stevens; James T Robinson; Moran N Cabili; Irit Gat-Viks; Edward Kelliher; Riza Daza; Matthew DeFelice; Helena Hůlková; Jana Sovová; Petr Vylet'al; Corinne Antignac; Mitchell Guttman; Robert E Handsaker; Danielle Perrin; Scott Steelman; Snaevar Sigurdsson; Steven J Scheinman; Carrie Sougnez; Kristian Cibulskis; Melissa Parkin; Todd Green; Elizabeth Rossin; Michael C Zody; Ramnik J Xavier; Martin R Pollak; Seth L Alper; Kerstin Lindblad-Toh; Stacey Gabriel; P Suzanne Hart; Aviv Regev; Chad Nusbaum; Stanislav Kmoch; Anthony J Bleyer; Eric S Lander; Mark J Daly
Journal:  Nat Genet       Date:  2013-02-10       Impact factor: 38.330

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