ArticleJournal of the American Society of Nephrology : JASN2017
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations
Open access · bronzeAbstract read
In one paragraph
Article in Journal of the American Society of Nephrology : JASN, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
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.
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.
Who cites it
35 citing papers in PubMed, 50 citations in OpenAlex.
- Review
- Multi-organ single-cell analysis of preferential expression of CAKUT genes.BMC nephrology · 2026Article
- Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).European journal of human genetics : EJHG · 2025Article
- Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.Orphanet journal of rare diseases · 2025Article
- Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.Pediatric research · 2025Article
- Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.Nature genetics · 2024Article
- Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).Kidney international · 2024Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Vitamin A and retinoid signaling in the kidneys.Pharmacology & therapeutics · 2023Review
- Model organisms for functional validation in genetic renal disease.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- The term CAKUT has outlived its usefulness: the case for the defense.Pediatric nephrology (Berlin, Germany) · 2022Review
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- The retinoic acid receptor co-factor NRIP1 is uniquely upregulated and represents a therapeutic target in acute myeloid leukemia with chromosome 3q rearrangements.Haematologica · 2022Article
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
- A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.American journal of medical genetics. Part A · 2022Article
- Congenital anomalies of the kidney and urinary tract in a cohort of 280 consecutive patients with Hirschsprung disease.Pediatric nephrology (Berlin, Germany) · 2021Article
- Article
- Article
- Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT).Molecular and cellular pediatrics · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 12 institutions in 5 countries.
Asaf VivanteDepartments of Medicine and.
Nina MannDepartments of Medicine and.
Hagith YonathDepartment of Internal Medicine A and Genetics Institute, Sheba Medical Center and Sackler Faculty of Medicine Tel Aviv University, Tel Aviv, Israel.
Anna-Carina WeissInstitut für Molekularbiologie, Medizinische Hochschule Hannover, Hannover, Germany.
Maike GetwanDepartment of Medicine, Renal Division, University Medical Center, Faculty of Medicine, and.
Michael M KaminskiDepartment of Medicine, Renal Division, University Medical Center, Faculty of Medicine, and.
Tobias BohnenpollInstitut für Molekularbiologie, Medizinische Hochschule Hannover, Hannover, Germany.
Catherine TeyssierInstitut de Recherche en Cancérologie de Montpellier (IRCM), Montpellier, France; Institut National de la Santé et de la Recherche Médicale (INSERM), Montpellier, France; Université Montpellier, Montpellier, France; Institut régional du Cancer de Montpellier, Montpellier, France.
Jing ChenDepartments of Medicine and.
Shirlee ShrilDepartments of Medicine and.
Amelie T van der VenDepartments of Medicine and.
Hadas ItyelDepartments of Medicine and.
Johanna Magdalena SchmidtDepartments of Medicine and.
Eugen WidmeierDepartments of Medicine and.
Stuart B BauerUrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Simone Sanna-CherchiDivision of Nephrology, Columbia University, New York, New York.
Ali G GharaviDivision of Nephrology, Columbia University, New York, New York.
Weining LuRenal Section, Department of Medicine, Boston University Medical Center, Boston, Massachusetts.
Daniella MagenPediatric Nephrology Institute, Rambam Health Care Campus, and Technion-Israel Institute of Technology, Haifa, Israel.
Rachel ShukrunDepartment of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Richard P LiftonDepartment of Human Genetics, Yale University School of Medicine, New Haven, Connecticut.
Velibor TasicDepartment of Pediatric Nephrology, Medical Faculty Skopje, University Children's Hospital, Skopje, Macedonia; and.
Horia C StanescuCentre for Nephrology, University College London, London, United Kingdom.
Vincent CavaillèsInstitut de Recherche en Cancérologie de Montpellier (IRCM), Montpellier, France; Institut National de la Santé et de la Recherche Médicale (INSERM), Montpellier, France; Université Montpellier, Montpellier, France; Institut régional du Cancer de Montpellier, Montpellier, France.
Robert KletaCentre for Nephrology, University College London, London, United Kingdom.
Yair AniksterDepartment of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Benjamin DekelDepartment of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Andreas KispertInstitut für Molekularbiologie, Medizinische Hochschule Hannover, Hannover, Germany.
Soeren S LienkampDepartment of Medicine, Renal Division, University Medical Center, Faculty of Medicine, and.
Friedhelm HildebrandtDepartments of Medicine and Friedhelm.Hildebrandt@childrens.harvard.edu.
Sheba Medical Center · ILUniversity Medical Center · USMedizinische Hochschule Hannover · DEColumbia University · USUniversity College London · GBBoston Children's Hospital · USBoston University · USEdmond and Lily Safra Children's Hospital · ILInstitut de Recherche en Cancérologie de Montpellier · FRTechnion – Israel Institute of Technology · ILUniversité de Montpellier · FRYale University · US
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MRenal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MRESEARCH TRAINING IN PEDIATRIC NEPHROLOGYT32DK007726 · NIDDK · CHILDREN'S HOSPITAL BOSTON · PI BRISCOE, DAVID M. · 1994 to 2023
$5.9MNew genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)R01DK088767 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2010 to 2019
$3.4MMolecular Pathogenesis of Vesicoureteral RefluxR01DK078226 · NIDDK · BOSTON MEDICAL CENTER · PI LU, WEINING · 2008 to 2018
$2.5MGenetics of Congenital Obstructive UropathyR01DK103184 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SANNA-CHERCHI, SIMONE · 2014 to 2018
$2.3MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kNCATS NIH HHS UL1 TR001863NHGRI NIH HHS U54 HG006504NIDDK NIH HHS P30 DK079310NIDDK NIH HHS R01 DK078226NIDDK NIH HHS R01 DK088767NIDDK NIH HHS R01 DK103184NIDDK NIH HHS T32 DK007726NIH HHS S10 OD018521
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of CKD in the first three decades of life. However, for most patients with CAKUT, the causative mutation remains unknown. We identified a kindred with an autosomal dominant form of CAKUT. By whole-exome sequencing, we identified a heterozygous truncating mutation (c.279delG, p.Trp93fs*) of the nuclear receptor interacting protein 1 gene (
Indexed as
MutationAdaptor Proteins, Signal TransducingAnimalsMiceNuclear ProteinsNuclear Receptor Interacting Protein 1Signal TransductionTretinoinUrinary TractAdaptor Proteins, Signal TransducingNRIP1 protein, humanNrip1 protein, mouseNuclear ProteinsNuclear Receptor Interacting Protein 1TretinoinCAKUTNRIP1retinoic acid
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
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.