Literature DB >> 21881214

Genetics of kidney failure and the evolving story of APOL1.

David J Friedman1, Martin R Pollak.   

Abstract

Chronic kidney disease (CKD) results from a wide array of processes that impair the kidney's ability to perform its major functions. As many as 20 million Americans suffer from CKD and nearly a half million from end-stage renal disease, but there are also examples of centenarians with adequate renal function. Family-based and genome-wide studies suggest that genetic differences substantially influence an individual's lifetime risk for kidney disease. One emerging theme is that evolution of genes related to host defense against pathogens may limit kidney longevity. The identification of these genetic factors will be critical for expanding our understanding of renal development and function as well as for the design of novel therapeutics for kidney disease.

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Year:  2011        PMID: 21881214      PMCID: PMC3163957          DOI: 10.1172/JCI46263

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  66 in total

1.  Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy.

Authors:  Ali G Gharavi; Zina Moldoveanu; Robert J Wyatt; Catherine V Barker; Susan Y Woodford; Richard P Lifton; Jiri Mestecky; Jan Novak; Bruce A Julian
Journal:  J Am Soc Nephrol       Date:  2008-02-13       Impact factor: 10.121

Review 2.  Are we missing an epidemic of HIV-associated nephropathy?

Authors:  J A Winston; P E Klotman
Journal:  J Am Soc Nephrol       Date:  1996-01       Impact factor: 10.121

3.  NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Authors:  N Boute; O Gribouval; S Roselli; F Benessy; H Lee; A Fuchshuber; K Dahan; M C Gubler; P Niaudet; C Antignac
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

4.  Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy.

Authors:  E R Seaquist; F C Goetz; S Rich; J Barbosa
Journal:  N Engl J Med       Date:  1989-05-04       Impact factor: 91.245

Review 5.  HIV-associated nephropathy in African Americans.

Authors:  Jeffrey B Kopp; Cheryl Winkler
Journal:  Kidney Int Suppl       Date:  2003-02       Impact factor: 10.545

6.  Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Authors:  Rainer G Ruf; Anne Lichtenberger; Stephanie M Karle; Johannes P Haas; Franzisco E Anacleto; Michael Schultheiss; Isabella Zalewski; Anita Imm; Eva-Maria Ruf; Bettina Mucha; Arvind Bagga; Thomas Neuhaus; Arno Fuchshuber; Aysin Bakkaloglu; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2004-03       Impact factor: 10.121

7.  Mammalian phospholipase A2: phospholipase A2 receptor.

Authors:  Kohji Hanasaki
Journal:  Biol Pharm Bull       Date:  2004-08       Impact factor: 2.233

Review 8.  Human innate immunity against African trypanosomes.

Authors:  Etienne Pays; Benoit Vanhollebeke
Journal:  Curr Opin Immunol       Date:  2009-06-24       Impact factor: 7.486

9.  Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Authors:  Elizabeth J Brown; Johannes S Schlöndorff; Daniel J Becker; Hiroyasu Tsukaguchi; Stephen J Tonna; Andrea L Uscinski; Henry N Higgs; Joel M Henderson; Martin R Pollak
Journal:  Nat Genet       Date:  2009-12-20       Impact factor: 38.330

10.  Genome-wide and fine-resolution association analysis of malaria in West Africa.

Authors:  Muminatou Jallow; Yik Ying Teo; Kerrin S Small; Kirk A Rockett; Panos Deloukas; Taane G Clark; Katja Kivinen; Kalifa A Bojang; David J Conway; Margaret Pinder; Giorgio Sirugo; Fatou Sisay-Joof; Stanley Usen; Sarah Auburn; Suzannah J Bumpstead; Susana Campino; Alison Coffey; Andrew Dunham; Andrew E Fry; Angela Green; Rhian Gwilliam; Sarah E Hunt; Michael Inouye; Anna E Jeffreys; Alieu Mendy; Aarno Palotie; Simon Potter; Jiannis Ragoussis; Jane Rogers; Kate Rowlands; Elilan Somaskantharajah; Pamela Whittaker; Claire Widden; Peter Donnelly; Bryan Howie; Jonathan Marchini; Andrew Morris; Miguel SanJoaquin; Eric Akum Achidi; Tsiri Agbenyega; Angela Allen; Olukemi Amodu; Patrick Corran; Abdoulaye Djimde; Amagana Dolo; Ogobara K Doumbo; Chris Drakeley; Sarah Dunstan; Jennifer Evans; Jeremy Farrar; Deepika Fernando; Tran Tinh Hien; Rolf D Horstmann; Muntaser Ibrahim; Nadira Karunaweera; Gilbert Kokwaro; Kwadwo A Koram; Martha Lemnge; Julie Makani; Kevin Marsh; Pascal Michon; David Modiano; Malcolm E Molyneux; Ivo Mueller; Michael Parker; Norbert Peshu; Christopher V Plowe; Odile Puijalon; John Reeder; Hugh Reyburn; Eleanor M Riley; Anavaj Sakuntabhai; Pratap Singhasivanon; Sodiomon Sirima; Adama Tall; Terrie E Taylor; Mahamadou Thera; Marita Troye-Blomberg; Thomas N Williams; Michael Wilson; Dominic P Kwiatkowski
Journal:  Nat Genet       Date:  2009-05-24       Impact factor: 38.330

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  56 in total

1.  Risk factors: Race, renal disease and albuminuria.

Authors:  Barry I Freedman; Donald W Bowden
Journal:  Nat Rev Nephrol       Date:  2011-10-18       Impact factor: 28.314

2.  Apolipoprotein L1 Genetic Variants Are Associated with Chronic Kidney Disease but Not with Cardiovascular Disease in a Population Referred for Cardiac Catheterization.

Authors:  Hanghang Wang; Patrick H Pun; Lydia Kwee; Damian Craig; Carol Haynes; Megan Chryst-Ladd; Laura P Svetkey; Uptal D Patel; Elizabeth R Hauser; Martin R Pollak; William E Kraus; Svati H Shah
Journal:  Cardiorenal Med       Date:  2016-12-29       Impact factor: 2.041

Review 3.  APOL1: The Balance Imposed by Infection, Selection, and Kidney Disease.

Authors:  Pazit Beckerman; Katalin Susztak
Journal:  Trends Mol Med       Date:  2018-06-07       Impact factor: 11.951

4.  APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore.

Authors:  Shrijal S Shah; Herbert Lannon; Leny Dias; Jia-Yue Zhang; Seth L Alper; Martin R Pollak; David J Friedman
Journal:  J Am Soc Nephrol       Date:  2019-09-26       Impact factor: 10.121

5.  Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice.

Authors:  Pazit Beckerman; Jing Bi-Karchin; Ae Seo Deok Park; Chengxiang Qiu; Patrick D Dummer; Irfana Soomro; Carine M Boustany-Kari; Steven S Pullen; Jeffrey H Miner; Chien-An A Hu; Tibor Rohacs; Kazunori Inoue; Shuta Ishibe; Moin A Saleem; Matthew B Palmer; Ana Maria Cuervo; Jeffrey B Kopp; Katalin Susztak
Journal:  Nat Med       Date:  2017-02-20       Impact factor: 53.440

Review 6.  Genetic variation and adaptation in Africa: implications for human evolution and disease.

Authors:  Felicia Gomez; Jibril Hirbo; Sarah A Tishkoff
Journal:  Cold Spring Harb Perspect Biol       Date:  2014-07-01       Impact factor: 10.005

7.  Diversity and inclusion in genomic research: why the uneven progress?

Authors:  Amy R Bentley; Shawneequa Callier; Charles N Rotimi
Journal:  J Community Genet       Date:  2017-07-18

8.  APOL1 Risk Alleles Are Associated with Exaggerated Age-Related Changes in Glomerular Number and Volume in African-American Adults: An Autopsy Study.

Authors:  Wendy E Hoy; Michael D Hughson; Jeffrey B Kopp; Susan A Mott; John F Bertram; Cheryl A Winkler
Journal:  J Am Soc Nephrol       Date:  2015-06-02       Impact factor: 10.121

Review 9.  Genes and environment in chronic kidney disease hotspots.

Authors:  David J Friedman
Journal:  Curr Opin Nephrol Hypertens       Date:  2019-01       Impact factor: 2.894

10.  Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans.

Authors:  Jun Ma; Meijian Guan; Donald W Bowden; Maggie C Y Ng; Pamela J Hicks; Janice P Lea; Lijun Ma; Chuan Gao; Nicholette D Palmer; Barry I Freedman
Journal:  Clin J Am Soc Nephrol       Date:  2016-05-19       Impact factor: 8.237

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