Literature DB >> 28784653

A Patient with a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease.

Bharathi V Reddy1, Arlene B Chapman2.   

Abstract

Entities:  

Keywords:  Autosomal Dominant; Humans; Mutation; Polycystic Kidney; kidney

Mesh：

Substances：

Year:  2017        PMID： 28784653      PMCID： PMC5628713          DOI： 10.2215/CJN.02830317

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


× No keyword cloud information.
  10 in total

1.  Progression of autosomal-dominant polycystic kidney disease in children.

Authors:  G M Fick-Brosnahan; Z V Tran; A M Johnson; J D Strain; P A Gabow
Journal:  Kidney Int       Date:  2001-05       Impact factor: 10.612

2.  A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.

Authors:  Sorin V Fedeles; Xin Tian; Anna-Rachel Gallagher; Michihiro Mitobe; Saori Nishio; Seung Hun Lee; Yiqiang Cai; Lin Geng; Craig M Crews; Stefan Somlo
Journal:  Nat Genet       Date:  2011-06-19       Impact factor: 38.330

3.  Magnetic resonance imaging of kidney and cyst volume in children with ADPKD.

Authors:  Melissa A Cadnapaphornchai; Amirali Masoumi; John D Strain; Kim McFann; Robert W Schrier
Journal:  Clin J Am Soc Nephrol       Date:  2010-11-29       Impact factor: 8.237

4.  Volume progression in polycystic kidney disease.

Authors:  Jared J Grantham; Vicente E Torres; Arlene B Chapman; Lisa M Guay-Woodford; Kyongtae T Bae; Bernard F King; Louis H Wetzel; Deborah A Baumgarten; Phillip J Kenney; Peter C Harris; Saulo Klahr; William M Bennett; Gladys N Hirschman; Catherine M Meyers; Xiaoling Zhang; Fang Zhu; John P Miller
Journal:  N Engl J Med       Date:  2006-05-18       Impact factor: 91.245

5.  Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome.

Authors:  Alireza Abdollah Shamshirsaz; Abdollah Shamshirsaz; Mir Reza Bekheirnia; Reza M Bekheirnia; Mohammad Kamgar; Ann M Johnson; K McFann; Melissa Cadnapaphornchai; Niloofar Nobakhthaghighi; N N Haghighi; Robert W Schrier
Journal:  Kidney Int       Date:  2005-11       Impact factor: 10.612

Review 6.  Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease.

Authors:  Manoe J Janssen; Esmé Waanders; Jannes Woudenberg; Dirk J Lefeber; Joost P H Drenth
Journal:  J Hepatol       Date:  2009-12-24       Impact factor: 25.083

7.  Magnetic resonance measurements of renal blood flow as a marker of disease severity in autosomal-dominant polycystic kidney disease.

Authors:  Bernard F King; Vicente E Torres; Marijn E Brummer; Arlene B Chapman; Kyongtae T Bae; James F Glockner; Kraisthith Arya; Joel P Felmlee; Jared J Grantham; Lisa M Guay-Woodford; William M Bennett; Saulo Klahr; Gladys H Hirschman; Paul L Kimmel; Paul A Thompson; J Phillip Miller
Journal:  Kidney Int       Date:  2003-12       Impact factor: 10.612

8.  Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

Authors:  Binu Porath; Vladimir G Gainullin; Emilie Cornec-Le Gall; Elizabeth K Dillinger; Christina M Heyer; Katharina Hopp; Marie E Edwards; Charles D Madsen; Sarah R Mauritz; Carly J Banks; Saurabh Baheti; Bharathi Reddy; José Ignacio Herrero; Jesús M Bañales; Marie C Hogan; Velibor Tasic; Terry J Watnick; Arlene B Chapman; Cécile Vigneau; Frédéric Lavainne; Marie-Pierre Audrézet; Claude Ferec; Yannick Le Meur; Vicente E Torres; Peter C Harris
Journal:  Am J Hum Genet       Date:  2016-06-02       Impact factor: 11.025

9.  Clinical profiles of gross hematuria in autosomal dominant polycystic kidney disease.

Authors:  P A Gabow; I Duley; A M Johnson
Journal:  Am J Kidney Dis       Date:  1992-08       Impact factor: 8.860

10.  Evaluation of nephrolithiasis in autosomal dominant polycystic kidney disease patients.

Authors:  José L Nishiura; Rodrigo F C A Neves; Samara R M Eloi; Susan M L F Cintra; Sergio A Ajzen; Ita P Heilberg
Journal:  Clin J Am Soc Nephrol       Date:  2009-04-01       Impact factor: 8.237
  10 in total
  4 in total

1.  Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice.

Authors:  Guangrui Geng; Yunming Xiao; Yingjie Zhang; Wanjun Shen; Jiaona Liu; Fei Zhu; Xu Wang; Jie Wu; Ran Liu; Guangyan Cai; Xueyuan Bai; Qinggang Li; Xiangmei Chen
Journal:  Biomed Res Int       Date:  2020-05-19       Impact factor: 3.411

2.  Clinical Features of 167 Inpatients with Autosomal Dominant Polycystic Kidney Disease at a Single Center in China.

Authors:  Jialin Meng; Yuchen Xu; Ao Li; Song Fan; Xufeng Shen; Dongyue Ma; Li Zhang; Zongyao Hao; Xiansheng Zhang; Chaozhao Liang
Journal:  Med Sci Monit       Date:  2018-09-16

Review 3.  Autosomal dominant polycystic kidney disease and pioglitazone for its therapy: a comprehensive review with an emphasis on the molecular pathogenesis and pharmacological aspects.

Authors:  Aryendu Kumar Saini; Rakesh Saini; Shubham Singh
Journal:  Mol Med       Date:  2020-12-11       Impact factor: 6.354

4.  Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease.

Authors:  Steven Soroka; Ahsan Alam; Micheli Bevilacqua; Louis-Philippe Girard; Paul Komenda; Rolf Loertscher; Philip McFarlane; Sanjaya Pandeya; Paul Tam; Daniel G Bichet
Journal:  Can J Kidney Health Dis       Date:  2018-10-12
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.