Literature DB >> 26324198

Decade in review--genetics of kidney diseases: Genetic dissection of kidney disorders.

Friedhelm Hildebrandt1.   

Abstract

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Year:  2015        PMID： 26324198      PMCID： PMC5198303          DOI： 10.1038/nrneph.2015.148

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


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  10 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.  Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Authors:  Moumita Chaki; Rannar Airik; Amiya K Ghosh; Rachel H Giles; Rui Chen; Gisela G Slaats; Hui Wang; Toby W Hurd; Weibin Zhou; Andrew Cluckey; Heon Yung Gee; Gokul Ramaswami; Chen-Jei Hong; Bruce A Hamilton; Igor Cervenka; Ranjani Sri Ganji; Vitezslav Bryja; Heleen H Arts; Jeroen van Reeuwijk; Machteld M Oud; Stef J F Letteboer; Ronald Roepman; Hervé Husson; Oxana Ibraghimov-Beskrovnaya; Takayuki Yasunaga; Gerd Walz; Lorraine Eley; John A Sayer; Bernhard Schermer; Max C Liebau; Thomas Benzing; Stephanie Le Corre; Iain Drummond; Sabine Janssen; Susan J Allen; Sivakumar Natarajan; John F O'Toole; Massimo Attanasio; Sophie Saunier; Corinne Antignac; Robert K Koenekoop; Huanan Ren; Irma Lopez; Ahmet Nayir; Corinne Stoetzel; Helene Dollfus; Rustin Massoudi; Joseph G Gleeson; Sharon P Andreoli; Dan G Doherty; Anna Lindstrad; Christelle Golzio; Nicholas Katsanis; Lars Pape; Emad B Abboud; Ali A Al-Rajhi; Richard A Lewis; Heymut Omran; Eva Y-H P Lee; Shaohui Wang; Joann M Sekiguchi; Rudel Saunders; Colin A Johnson; Elizabeth Garner; Katja Vanselow; Jens S Andersen; Joseph Shlomai; Gudrun Nurnberg; Peter Nurnberg; Shawn Levy; Agata Smogorzewska; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Cell       Date:  2012-08-03       Impact factor: 41.582

3.  Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

Authors:  Kálmán Tory; Dóra K Menyhárd; Stéphanie Woerner; Fabien Nevo; Olivier Gribouval; Andrea Kerti; Pál Stráner; Christelle Arrondel; Evelyne Huynh Cong; Tivadar Tulassay; Géraldine Mollet; András Perczel; Corinne Antignac
Journal:  Nat Genet       Date:  2014-02-09       Impact factor: 38.330

Review 4.  The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans.

Authors:  Barry I Freedman; Jeffrey B Kopp; Carl D Langefeld; Giulio Genovese; David J Friedman; George W Nelson; Cheryl A Winkler; Donald W Bowden; Martin R Pollak
Journal:  J Am Soc Nephrol       Date:  2010-08-05       Impact factor: 10.121

5.  COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Authors:  Saskia F Heeringa; Gil Chernin; Moumita Chaki; Weibin Zhou; Alexis J Sloan; Ziming Ji; Letian X Xie; Leonardo Salviati; Toby W Hurd; Virginia Vega-Warner; Paul D Killen; Yehoash Raphael; Shazia Ashraf; Bugsu Ovunc; Dominik S Schoeb; Heather M McLaughlin; Rannar Airik; Christopher N Vlangos; Rasheed Gbadegesin; Bernward Hinkes; Pawaree Saisawat; Eva Trevisson; Mara Doimo; Alberto Casarin; Vanessa Pertegato; Gianpietro Giorgi; Holger Prokisch; Agnès Rötig; Gudrun Nürnberg; Christian Becker; Su Wang; Fatih Ozaltin; Rezan Topaloglu; Aysin Bakkaloglu; Sevcan A Bakkaloglu; Dominik Müller; Antje Beissert; Sevgi Mir; Afig Berdeli; Seza Varpizen; Martin Zenker; Verena Matejas; Carlos Santos-Ocaña; Placido Navas; Takehiro Kusakabe; Andreas Kispert; Sema Akman; Neveen A Soliman; Stefanie Krick; Peter Mundel; Jochen Reiser; Peter Nürnberg; Catherine F Clarke; Roger C Wiggins; Christian Faul; Friedhelm Hildebrandt
Journal:  J Clin Invest       Date:  2011-04-11       Impact factor: 14.808

6.  Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.

Authors:  Nikolay O Bukanov; Laurie A Smith; Katherine W Klinger; Steven R Ledbetter; Oxana Ibraghimov-Beskrovnaya
Journal:  Nature       Date:  2006-11-22       Impact factor: 49.962

7.  ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

Authors:  Heon Yung Gee; Pawaree Saisawat; Shazia Ashraf; Toby W Hurd; Virginia Vega-Warner; Humphrey Fang; Bodo B Beck; Olivier Gribouval; Weibin Zhou; Katrina A Diaz; Sivakumar Natarajan; Roger C Wiggins; Svjetlana Lovric; Gil Chernin; Dominik S Schoeb; Bugsu Ovunc; Yaacov Frishberg; Neveen A Soliman; Hanan M Fathy; Heike Goebel; Julia Hoefele; Lutz T Weber; Jeffrey W Innis; Christian Faul; Zhe Han; Joseph Washburn; Corinne Antignac; Shawn Levy; Edgar A Otto; Friedhelm Hildebrandt
Journal:  J Clin Invest       Date:  2013-07-08       Impact factor: 14.808

8.  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

9.  A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Authors:  Carolin E Sadowski; Svjetlana Lovric; Shazia Ashraf; Werner L Pabst; Heon Yung Gee; Stefan Kohl; Susanne Engelmann; Virginia Vega-Warner; Humphrey Fang; Jan Halbritter; Michael J Somers; Weizhen Tan; Shirlee Shril; Inès Fessi; Richard P Lifton; Detlef Bockenhauer; Sherif El-Desoky; Jameela A Kari; Martin Zenker; Markus J Kemper; Dominik Mueller; Hanan M Fathy; Neveen A Soliman; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2014-10-27       Impact factor: 10.121

10.  FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.

Authors:  Weibin Zhou; Edgar A Otto; Andrew Cluckey; Rannar Airik; Toby W Hurd; Moumita Chaki; Katrina Diaz; Francis P Lach; Geoffrey R Bennett; Heon Yung Gee; Amiya K Ghosh; Sivakumar Natarajan; Supawat Thongthip; Uma Veturi; Susan J Allen; Sabine Janssen; Gokul Ramaswami; Joanne Dixon; Felix Burkhalter; Martin Spoendlin; Holger Moch; Michael J Mihatsch; Jerome Verine; Richard Reade; Hany Soliman; Michel Godin; Denes Kiss; Guido Monga; Gianna Mazzucco; Kerstin Amann; Ferruh Artunc; Ronald C Newland; Thorsten Wiech; Stefan Zschiedrich; Tobias B Huber; Andreas Friedl; Gisela G Slaats; Jaap A Joles; Roel Goldschmeding; Joseph Washburn; Rachel H Giles; Shawn Levy; Agata Smogorzewska; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2012-07-08       Impact factor: 38.330
  10 in total
  7 in total

1.  SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

Authors:  Jung-Hyun Kim; Eun Young Park; David Chitayat; David L Stachura; Jörg Schaper; Kristin Lindstrom; Tamison Jewett; Dagmar Wieczorek; Jos M Draaisma; Margje Sinnema; Christianne Hoeberigs; Maja Hempel; Kristine K Bachman; Andrea H Seeley; Joshua K Stone; Hyun Kyung Kong; Lana Vukadin; Alexander Richard; Deepali N Shinde; Kirsty McWalter; Yue Cindy Si; Ganka Douglas; Ssang-Taek Lim; Lisenka E L M Vissers; Mathieu Lemaire; Eun-Young Erin Ahn
Journal:  Kidney Int       Date:  2019-03-15       Impact factor: 10.612

Review 2.  Clinical Applications of Genetic Discoveries in Kidney Transplantation: a Review.

Authors:  Ethan P Marin; Elizabeth Cohen; Neera Dahl
Journal:  Kidney360       Date:  2020-03-11

Review 3.  Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.

Authors:  Kamal Khan; Dina F Ahram; Yangfan P Liu; Rik Westland; Rosemary V Sampogna; Nicholas Katsanis; Erica E Davis; Simone Sanna-Cherchi
Journal:  Kidney Int       Date:  2021-11-12       Impact factor: 10.612

4.  Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment.

Authors:  Yasar Caliskan; Brian Lee; Adrian Whelan; Fadee Abualrub; Krista L Lentine; Arksarapuk Jittirat
Journal:  Curr Transplant Rep       Date:  2022-03-16

5.  Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.

Authors:  Jia Rao; Shazia Ashraf; Weizhen Tan; Amelie T van der Ven; Heon Yung Gee; Daniela A Braun; Krisztina Fehér; Sudeep P George; Amin Esmaeilniakooshkghazi; Won-Il Choi; Tilman Jobst-Schwan; Ronen Schneider; Johanna Magdalena Schmidt; Eugen Widmeier; Jillian K Warejko; Tobias Hermle; David Schapiro; Svjetlana Lovric; Shirlee Shril; Ankana Daga; Ahmet Nayir; Mohan Shenoy; Yincent Tse; Martin Bald; Udo Helmchen; Sevgi Mir; Afig Berdeli; Jameela A Kari; Sherif El Desoky; Neveen A Soliman; Arvind Bagga; Shrikant Mane; Mohamad A Jairajpuri; Richard P Lifton; Seema Khurana; Jose C Martins; Friedhelm Hildebrandt
Journal:  J Clin Invest       Date:  2017-10-23       Impact factor: 14.808

Review 6.  Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.

Authors:  Rik Westland; Kirsten Y Renkema; Nine V A M Knoers
Journal:  Clin J Am Soc Nephrol       Date:  2020-04-20       Impact factor: 8.237

Review 7.  The Evolving Role of Diagnostic Genomics in Kidney Transplantation.

Authors:  Jacqueline Soraru; Aron Chakera; Nikky Isbel; Amali Mallawaarachichi; Natasha Rogers; Peter Trnka; Chirag Patel; Andrew J Mallett
Journal:  Kidney Int Rep       Date:  2022-05-25
  7 in total

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