Literature DB >> 24296626

Genetics in kidney disease in 2013: Susceptibility genes for renal and urological disorders.

Jasmin Divers1, Barry I Freedman2.   

Abstract

In 2013, substantial progress was made in uncovering the genetic basis of a variety of kidney and urological disorders, including congenital and developmental diseases. The new findings will lead to an increased understanding of the pathophysiology of these diseases, improved risk prediction and the development of novel therapies.

Entities:  

Mesh：

Year:  2013        PMID： 24296626      PMCID： PMC4003456          DOI： 10.1038/nrneph.2013.259

Source DB:  PubMed          Journal:  Nat Rev Nephrol        ISSN： 1759-5061            Impact factor:   28.314


  9 in total

1.  Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

Authors:  Giulio Genovese; David J Friedman; Michael D Ross; Laurence Lecordier; Pierrick Uzureau; Barry I Freedman; Donald W Bowden; Carl D Langefeld; Taras K Oleksyk; Andrea L Uscinski Knob; Andrea J Bernhardy; Pamela J Hicks; George W Nelson; Benoit Vanhollebeke; Cheryl A Winkler; Jeffrey B Kopp; Etienne Pays; Martin R Pollak
Journal:  Science       Date:  2010-07-15       Impact factor: 47.728

2.  Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

Authors:  T C Hart; M C Gorry; P S Hart; A S Woodard; Z Shihabi; J Sandhu; B Shirts; L Xu; H Zhu; M M Barmada; A J Bleyer
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

3.  Hypertension-misattributed kidney disease in African Americans.

Authors:  Karl L Skorecki; Walter G Wasser
Journal:  Kidney Int       Date:  2013-01       Impact factor: 10.612

4.  Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.

Authors:  Shay Tzur; Saharon Rosset; Revital Shemer; Guennady Yudkovsky; Sara Selig; Ayele Tarekegn; Endashaw Bekele; Neil Bradman; Walter G Wasser; Doron M Behar; Karl Skorecki
Journal:  Hum Genet       Date:  2010-07-16       Impact factor: 4.132

5.  From single nucleotide polymorphism to transcriptional mechanism: a model for FRMD3 in diabetic nephropathy.

Authors:  Sebastian Martini; Viji Nair; Sanjeevkumar R Patel; Felix Eichinger; Robert G Nelson; E Jennifer Weil; Marcus G Pezzolesi; Andrzej S Krolewski; Ann Randolph; Benjamin J Keller; Thomas Werner; Matthias Kretzler
Journal:  Diabetes       Date:  2013-02-22       Impact factor: 9.461

6.  Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes.

Authors:  Marcus G Pezzolesi; G David Poznik; Josyf C Mychaleckyj; Andrew D Paterson; Michelle T Barati; Jon B Klein; Daniel P K Ng; Grzegorz Placha; Luis H Canani; Jacek Bochenski; Daryl Waggott; Michael L Merchant; Bozena Krolewski; Lucia Mirea; Krzysztof Wanic; Pisut Katavetin; Masahiko Kure; Pawel Wolkow; Jonathon S Dunn; Adam Smiles; William H Walker; Andrew P Boright; Shelley B Bull; Alessandro Doria; John J Rogus; Stephen S Rich; James H Warram; Andrzej S Krolewski
Journal:  Diabetes       Date:  2009-02-27       Impact factor: 9.461

7.  Mutations in DSTYK and dominant urinary tract malformations.

Authors:  Rosemary V Sampogna; Natalia Papeta; Katelyn E Burgess; Simone Sanna-Cherchi; Shannon N Nees; Brittany J Perry; Murim Choi; Monica Bodria; Yan Liu; Patricia L Weng; Vladimir J Lozanovski; Miguel Verbitsky; Francesca Lugani; Roel Sterken; Neal Paragas; Gianluca Caridi; Alba Carrea; Monica Dagnino; Anna Materna-Kiryluk; Giuseppe Santamaria; Corrado Murtas; Nadica Ristoska-Bojkovska; Claudia Izzi; Nilgun Kacak; Beatrice Bianco; Stefania Giberti; Maddalena Gigante; Giorgio Piaggio; Loreto Gesualdo; Durdica Kosuljandic Vukic; Katarina Vukojevic; Mirna Saraga-Babic; Marijan Saraga; Zoran Gucev; Landino Allegri; Anna Latos-Bielenska; Domenica Casu; Matthew State; Francesco Scolari; Roberto Ravazzolo; Krzysztof Kiryluk; Qais Al-Awqati; Vivette D D'Agati; Iain A Drummond; Velibor Tasic; Richard P Lifton; Gian Marco Ghiggeri; Ali G Gharavi
Journal:  N Engl J Med       Date:  2013-07-17       Impact factor: 91.245

8.  Apolipoprotein L1 gene variants associate with hypertension-attributed nephropathy and the rate of kidney function decline in African Americans.

Authors:  Michael S Lipkowitz; Barry I Freedman; Carl D Langefeld; Mary E Comeau; Donald W Bowden; W H Linda Kao; Brad C Astor; Erwin P Bottinger; Sudha K Iyengar; Paul E Klotman; Richard G Freedman; Weijia Zhang; Rulan S Parekh; Michael J Choi; George W Nelson; Cheryl A Winkler; Jeffrey B Kopp
Journal:  Kidney Int       Date:  2012-07-25       Impact factor: 10.612

9.  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
  9 in total
  2 in total

Review 1.  African origins and chronic kidney disease susceptibility in the human immunodeficiency virus era.

Authors:  Alex N Kasembeli; Raquel Duarte; Michèle Ramsay; Saraladevi Naicker
Journal:  World J Nephrol       Date:  2015-05-06

Review 2.  Mitochondria Damage and Kidney Disease.

Authors:  Pu Duann; Pei-Hui Lin
Journal:  Adv Exp Med Biol       Date:  2017       Impact factor: 2.622
  2 in total

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