Evidence map›Paper›PMID 26908769›Full record

ArticleNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2016

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.

Stefan Kohl, Jing Chen, Asaf Vivante, Daw-Yang Hwang, Shirlee Shril, Gabriel C Dworschak, Amelie Van Der Ven, Simone Sanna-Cherchi, Stuart B Bauer, Richard S Lee and 5 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.2field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Review
  3. Non-Coding RNAs in Hereditary Kidney Disorders.International journal of molecular sciences · 2021
    Review
  4. Article
  5. Review
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 9 institutions in 7 countries.

Stefan KohlDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA Department of Pediatrics, Cologne Children's Hospital, Cologne, Germany.
Jing ChenDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Asaf VivanteDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
Daw-Yang HwangDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA Division of Nephrology, Department of Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Shirlee ShrilDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Gabriel C DworschakDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA Institute of Human Genetics, University of Bonn, Bonn, Germany.
Amelie Van Der VenDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Simone Sanna-CherchiDepartment of Medicine, Columbia University, New York, NY, USA.
Stuart B BauerDepartment of Urology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Richard S LeeDepartment of Urology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Neveen A SolimanDepartment of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt Egyptian Group for Orphan Renal Diseases (EGORD), Cairo, Egypt.
Elijah O KehindeDivision of Urology, Department of Surgery, Kuwait University, Safat, Kuwait.
Heiko M ReutterInstitute of Human Genetics, University of Bonn, Bonn, Germany Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.
Velibor TasicMedical Faculty Skopje, University Children's Hospital, Skopje, Macedonia.
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA Howard Hughes Medical Institute, Chevy Chase, MD, USA.
Harvard University · USBoston Children's Hospital · USCairo University · EGChildren's Clinical University Hospital · LVColumbia University · USKaohsiung Medical University · TWKuwait University · KWUniversity Hospital Bonn · DEUniversity Hospital Cologne · DE

Funding

New genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)R01DK088767 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2010 to 2019
$3.4M
Genetics of Congenital Obstructive UropathyR01DK103184 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SANNA-CHERCHI, SIMONE · 2014 to 2018
$2.3M
Identifying new genes for branchio-oto-renal syndromeR01HD045345 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2005 to 2009
$1.6M
Early Validation of Urinary Biomarkers of Renal ObstructionR01DK096238 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI LEE, RICHARD SANG-YONG · 2013 to 2017
$1.3M
Howard Hughes Medical InstituteNICHD NIH HHS R01 HD045345NIDDK NIH HHS R01 DK088767NIDDK NIH HHS R01 DK096238NIDDK NIH HHS R01 DK103184
6 · The paper itself

Abstract

backgroundCongenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney diseases in children and young adults, accounting for ∼50% of cases. These anomalies represent maldevelopment of the genitourinary system and can be genetically explained in only 10-16% of cases by mutations or by copy number variations in protein coding sequences. Knock-out mouse models, lacking components of the microRNA (miRNA) processing machinery (i.e. Dicer, Drosha, Dgcr8), exhibit kidney malformations resembling human CAKUT.

methodsGiven the Dicer-null mouse phenotype, which implicates a central role for miRNAs gene regulation during kidney development, we hypothesized that miRNAs expressed during kidney development may cause CAKUT in humans if mutated. To evaluate this possibility we carried out Next-Generation sequencing of 96 stem-loop regions of 73 renal developmental miRNA genes in 1248 individuals with non-syndromic CAKUT from 980 families.

resultsWe sequenced 96 stem-loop regions encoded by 73 miRNA genes that are expressed during kidney development in humans, mice and rats. Overall, we identified in 31/1213 individuals from 26 families with 17 different single nucleotide variants. Two variants did not segregate with the disease and hence were not causative. Thirteen variants were likely benign variants because they occurred in control populations and/or they affected nucleotides of weak evolutionary conservation. Two out of 1213 unrelated individuals had potentially pathogenic variants with unknown biologic relevance affecting miRNAs MIR19B1 and MIR99A.

conclusionsOur results indicate that mutations affecting mature microRNAs in individuals with CAKUT are rare and thus most likely not a common cause of CAKUT in humans.

Indexed as

MutationAdolescentAnimalsChildDNA Copy Number VariationsHumansKidneyMiceMice, KnockoutMicroRNAsPhenotypeRatsUrinary TractUrogenital AbnormalitiesYoung AdultMicroRNAsCAKUTmicroRNAmiRNAstem-loop

Identifiers

PMID26908769
PMCPMC4967727
OpenAlexW2412238635

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.