Literature DB >> 31992573

The Genetic Architecture of Kidney Disease.

Martin R Pollak1, David J Friedman2.   

Abstract

The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic drivers of Mendelian disease into focus at the base pair level, whereas inexpensive genotyping arrays have surveyed hundreds of thousands of individuals to identify common variants that predispose to kidney dysfunction. In this first article in a CJASN series on kidney genomics, we review how both rare and common variants contribute to kidney disease, explore how evolution may influence the genetic variants that affect kidney function, consider how genetic information is and will be used in the clinic, and identify some of the most important future directions for kidney disease research. Forthcoming articles in the series will elaborate on many of these themes.
Copyright © 2020 by the American Society of Nephrology.

Entities:  

Keywords:  Kidney Genomics Series; architecture; base pairing; genomics; genotype; high-throughput nucleotide sequencing; humans; kidney; kidney diseases; renal insufficiency; urinary tract physiological phenomena

Mesh:

Year:  2020        PMID: 31992573      PMCID: PMC7015082          DOI: 10.2215/CJN.09340819

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


  24 in total

Review 1.  The molecular basis of blood pressure variation.

Authors:  Hakan R Toka; Jacob M Koshy; Ali Hariri
Journal:  Pediatr Nephrol       Date:  2012-07-05       Impact factor: 3.714

2.  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

3.  Single-cell transcriptomics of the mouse kidney reveals potential cellular targets of kidney disease.

Authors:  Jihwan Park; Rojesh Shrestha; Chengxiang Qiu; Ayano Kondo; Shizheng Huang; Max Werth; Mingyao Li; Jonathan Barasch; Katalin Suszták
Journal:  Science       Date:  2018-04-05       Impact factor: 47.728

Review 4.  Kidney and organoid single-cell transcriptomics: the end of the beginning.

Authors:  Parker C Wilson; Benjamin D Humphreys
Journal:  Pediatr Nephrol       Date:  2019-01-04       Impact factor: 3.714

5.  Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

Authors:  Hanna Debiec; Claire Dossier; Eric Letouzé; Christopher E Gillies; Marina Vivarelli; Rosemary K Putler; Elisabet Ars; Evelyne Jacqz-Aigrain; Valery Elie; Manuela Colucci; Stéphanie Debette; Philippe Amouyel; Siham C Elalaoui; Abdelaziz Sefiani; Valérie Dubois; Tabassome Simon; Matthias Kretzler; Jose Ballarin; Francesco Emma; Matthew G Sampson; Georges Deschênes; Pierre Ronco
Journal:  J Am Soc Nephrol       Date:  2018-06-14       Impact factor: 10.121

6.  Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

Authors:  D B Simon; F E Karet; J M Hamdan; A DiPietro; S A Sanjad; R P Lifton
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

Review 7.  Apolipoprotein L1 and Kidney Disease in African Americans.

Authors:  David J Friedman; Martin R Pollak
Journal:  Trends Endocrinol Metab       Date:  2016-03-03       Impact factor: 12.015

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.  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

Review 10.  Genetics of type 2 diabetes-pitfalls and possibilities.

Authors:  Rashmi B Prasad; Leif Groop
Journal:  Genes (Basel)       Date:  2015-03-12       Impact factor: 4.096

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  5 in total

1.  From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting.

Authors:  Andrew L Lundquist; Renee C Pelletier; Courtney E Leonard; Winfred W Williams; Katrina A Armstrong; Heidi L Rehm; Eugene P Rhee
Journal:  Kidney360       Date:  2020-08-12

Review 2.  Machine learning for risk stratification in kidney disease.

Authors:  Faris F Gulamali; Ashwin S Sawant; Girish N Nadkarni
Journal:  Curr Opin Nephrol Hypertens       Date:  2022-08-10       Impact factor: 3.416

Review 3.  Inherited Kidney Complement Diseases.

Authors:  Mathieu Lemaire; Damien Noone; Anne-Laure Lapeyraque; Christoph Licht; Véronique Frémeaux-Bacchi
Journal:  Clin J Am Soc Nephrol       Date:  2021-02-03       Impact factor: 10.614

Review 4.  Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.

Authors:  Laura Nuñez-Gonzalez; Noa Carrera; Miguel A Garcia-Gonzalez
Journal:  Int J Mol Sci       Date:  2021-10-22       Impact factor: 5.923

Review 5.  Emerging Role of Clinical Genetics in CKD.

Authors:  Prasad Devarajan; Glenn M Chertow; Katalin Susztak; Adeera Levin; Rajiv Agarwal; Peter Stenvinkel; Arlene B Chapman; Bradley A Warady
Journal:  Kidney Med       Date:  2022-02-11
  5 in total

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