Literature DB >> 25296720

The search for monogenic causes of kidney stones.

David S Goldfarb1.   

Abstract

Entities:  

Keywords:  genetic renal disease; kidney stones; molecular genetics

Mesh：

Year:  2014        PMID： 25296720      PMCID： PMC4341491          DOI： 10.1681/ASN.2014090847

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


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  13 in total

1.  Diagnosis of medullary sponge kidney by computed tomographic urography.

Authors:  Anna M Maw; Alec J Megibow; Michael Grasso; David S Goldfarb
Journal:  Am J Kidney Dis       Date:  2007-07       Impact factor: 8.860

2.  Calcium kidney stones are associated with a haplotype of the calcium-sensing receptor gene regulatory region.

Authors:  Giuseppe Vezzoli; Annalisa Terranegra; Teresa Arcidiacono; Giovanni Gambaro; Luciano Milanesi; Ettore Mosca; Laura Soldati
Journal:  Nephrol Dial Transplant       Date:  2010-01-12       Impact factor: 5.992

3.  Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.

Authors:  Gudmar Thorleifsson; Hilma Holm; Vidar Edvardsson; G Bragi Walters; Unnur Styrkarsdottir; Daniel F Gudbjartsson; Patrick Sulem; Bjarni V Halldorsson; Femmie de Vegt; Frank C H d'Ancona; Martin den Heijer; Leifur Franzson; Claus Christiansen; Peter Alexandersen; Thorunn Rafnar; Kristleifur Kristjansson; Gunnar Sigurdsson; Lambertus A Kiemeney; Magnus Bodvarsson; Olafur S Indridason; Runolfur Palsson; Augustine Kong; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nat Genet       Date:  2009-06-28       Impact factor: 38.330

4.  Cystine: a promoter of the growth and aggregation of calcium oxalate crystals in normal undiluted human urine.

Authors:  Maria C Martins; Anthony A Meyers; Natalie A Whalley; Allen L Rodgers
Journal:  J Urol       Date:  2002-01       Impact factor: 7.450

5.  Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Authors:  Jan Halbritter; Michelle Baum; Ann Marie Hynes; Sarah J Rice; David T Thwaites; Zoran S Gucev; Brittany Fisher; Leslie Spaneas; Jonathan D Porath; Daniela A Braun; Ari J Wassner; Caleb P Nelson; Velibor Tasic; John A Sayer; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2014-10-08       Impact factor: 10.121

6.  SLC7A9 mutations in all three cystinuria subtypes.

Authors:  Daniel Leclerc; Marylise Boutros; Daniel Suh; Qing Wu; Manuel Palacin; James R Ellis; Paul Goodyer; Rima Rozen
Journal:  Kidney Int       Date:  2002-11       Impact factor: 10.612

Review 7.  Genetics and calcium nephrolithiasis.

Authors:  Giuseppe Vezzoli; Annalisa Terranegra; Teresa Arcidiacono; Laura Soldati
Journal:  Kidney Int       Date:  2010-10-20       Impact factor: 10.612

8.  Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.

Authors:  Berenice Y Reed; William L Gitomer; Howard J Heller; Ming Chue Hsu; Martha Lemke; Paulette Padalino; Charles Y C Pak
Journal:  J Clin Endocrinol Metab       Date:  2002-04       Impact factor: 5.958

Review 9.  Legacies of Garrod's brilliance. One hundred years--and counting.

Authors:  L E Rosenberg
Journal:  J Inherit Metab Dis       Date:  2008-10-05       Impact factor: 4.982

10.  Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Authors:  Debayan Dasgupta; Mark J Wee; Monica Reyes; Yuwen Li; Peter J Simm; Amita Sharma; Karl-Peter Schlingmann; Marco Janner; Andrew Biggin; Joanna Lazier; Michaela Gessner; Dionisios Chrysis; Shamir Tuchman; H Jorge Baluarte; Michael A Levine; Dov Tiosano; Karl Insogna; David A Hanley; Thomas O Carpenter; Shoji Ichikawa; Bernd Hoppe; Martin Konrad; Lars Sävendahl; Craig F Munns; Hang Lee; Harald Jüppner; Clemens Bergwitz
Journal:  J Am Soc Nephrol       Date:  2014-04-03       Impact factor: 10.121
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  5 in total

Review 1.  Exploring the genetic basis of early-onset chronic kidney disease.

Authors:  Asaf Vivante; Friedhelm Hildebrandt
Journal:  Nat Rev Nephrol       Date:  2016-01-11       Impact factor: 28.314

2.  Targeted renal knockdown of Na+/H+ exchanger regulatory factor Sip1 produces uric acid nephrolithiasis in Drosophila.

Authors:  Saurav Ghimire; Selim Terhzaz; Pablo Cabrero; Michael F Romero; Shireen A Davies; Julian A T Dow
Journal:  Am J Physiol Renal Physiol       Date:  2019-07-31

3.  Medical evaluation of living kidney donors with nephrolithiasis: a survey of practices in the United States.

Authors:  V S Tatapudi; F Modersitzki; S Marineci; M A Josephson; D S Goldfarb
Journal:  Clin Exp Nephrol       Date:  2019-11-06       Impact factor: 2.801

4.  Derivation and validation of genome-wide polygenic score for urinary tract stone diagnosis.

Authors:  Ishan Paranjpe; Noah Tsao; Renae Judy; Manish Paranjpe; Kumardeep Chaudhary; Derek Klarin; Iain Forrest; Ross O'Hagan; Arjun Kapoor; John Pfail; Suraj Jaladanki; Fayzan Chaudhry; Akhil Vaid; Phan Q Duy; John Cijiang He; Benjamin S Glicksberg; Steven G Coca; Mantu Gupta; Ron Do; Scott M Damrauer; Girish N Nadkarni
Journal:  Kidney Int       Date:  2020-06-12       Impact factor: 10.612

Review 5.  Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis.

Authors:  John A Sayer
Journal:  J Am Soc Nephrol       Date:  2016-12-08       Impact factor: 10.121
  5 in total

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