Literature DB >> 27642543

Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease.

Matthew G Sampson1, Harald Jüppner2.   

Abstract

The influence of genetic variation on the pathogenesis of pediatric kidney disease extends from the earliest stages of kidney development in utero to conditions arising throughout a child's life. Major advances in genomic technologies, computing power, and bioinformatics analyses have resulted in the accelerated discovery of novel genes and risk loci associated with both inherited and sporadic forms of pediatric kidney disease. In this review, we will highlight studies over the past year that used diverse approaches to discover novel genes and loci associated with pediatric renal disease. We will also discuss reports that investigate the association with disease of previously discovered risk variants in novel populations, different phenotypes, or in model systems. Finally, we will discuss how we believe genomic inquiry will evolve in pediatric kidney disease in the future. Together, these studies illustrate that almost every child with a kidney condition could participate in some form of genomic investigation.

Entities:  

Keywords:  CNV; Chronic kidney disease; Exome; Family studies; GWAS; Genes; Genome; Genomics; Nephrotic syndrome; Next-generation sequencing; Pediatric nephrology; Phenotyping; Single nucleotide variant; Transcriptome

Year:  2012        PMID: 27642543      PMCID: PMC5022771          DOI: 10.1007/s40124-012-0001-5

Source DB:  PubMed          Journal:  Curr Pediatr Rep


  54 in total

1.  Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Authors:  Pawaree Saisawat; Velibor Tasic; Virginia Vega-Warner; Elijah O Kehinde; Barbara Günther; Rannar Airik; Jeffrey W Innis; Bethan E Hoskins; Julia Hoefele; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2011-09-07       Impact factor: 10.612

2.  The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival.

Authors:  B T Lee; V Kumar; T A Williams; R Abdi; A Bernhardy; C Dyer; S Conte; G Genovese; M D Ross; D J Friedman; R Gaston; E Milford; M R Pollak; A Chandraker
Journal:  Am J Transplant       Date:  2012-04-04       Impact factor: 8.086

3.  Validated SNPs for eGFR and their associations with albuminuria.

Authors:  Jaclyn W Ellis; Ming-Huei Chen; Meredith C Foster; Ching-Ti Liu; Martin G Larson; Ian de Boer; Anna Köttgen; Afshin Parsa; Murielle Bochud; Carsten A Böger; Linda Kao; Caroline S Fox; Conall M O'Seaghdha
Journal:  Hum Mol Genet       Date:  2012-04-05       Impact factor: 6.150

4.  APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy.

Authors:  Jeffrey B Kopp; George W Nelson; Karmini Sampath; Randall C Johnson; Giulio Genovese; Ping An; David Friedman; William Briggs; Richard Dart; Stephen Korbet; Michele H Mokrzycki; Paul L Kimmel; Sophie Limou; Tejinder S Ahuja; Jeffrey S Berns; Justyna Fryc; Eric E Simon; Michael C Smith; Howard Trachtman; Donna M Michel; Jeffrey R Schelling; David Vlahov; Martin Pollak; Cheryl A Winkler
Journal:  J Am Soc Nephrol       Date:  2011-10-13       Impact factor: 10.121

5.  Performance of a genetic risk score for CKD stage 3 in the general population.

Authors:  Conall M O'Seaghdha; Qiong Yang; Hongsheng Wu; Shih-Jen Hwang; Caroline S Fox
Journal:  Am J Kidney Dis       Date:  2011-10-13       Impact factor: 8.860

Review 6.  APOL1 and kidney disease.

Authors:  Martin R Pollak; Giulio Genovese; David J Friedman
Journal:  Curr Opin Nephrol Hypertens       Date:  2012-03       Impact factor: 2.894

Review 7.  Branchio-oto-renal syndrome.

Authors:  Amit Kochhar; Stephanie M Fischer; William J Kimberling; Richard J H Smith
Journal:  Am J Med Genet A       Date:  2007-07-15       Impact factor: 2.802

8.  Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

Authors:  Murat Bastepe; Leopold F Fröhlich; Geoffrey N Hendy; Olafur S Indridason; Robert G Josse; Hiroyuki Koshiyama; Jarmo Körkkö; Jon M Nakamoto; Arlan L Rosenbloom; Arnold H Slyper; Toshitsugu Sugimoto; Agathocles Tsatsoulis; John D Crawford; Harald Jüppner
Journal:  J Clin Invest       Date:  2003-10       Impact factor: 14.808

9.  Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

Authors:  M A Pook; O Wrong; C Wooding; A G Norden; T G Feest; R V Thakker
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

10.  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

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  1 in total

Review 1.  Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN).

Authors:  Claire E Fishman; Maede Mohebnasab; Jessica van Setten; Francesca Zanoni; Chen Wang; Silvia Deaglio; Antonio Amoroso; Lauren Callans; Teun van Gelder; Sangho Lee; Krzysztof Kiryluk; Matthew B Lanktree; Brendan J Keating
Journal:  Front Genet       Date:  2019-11-15       Impact factor: 4.599

  1 in total

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