Evidence map›Paper›PMID 41309577›Full record

ArticleNature communications2025

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Florian Buerger, Daanya Salmanullah, Lorrin Liang, Victoria Gauntner, Kavita Krueger, Jiansong Qi, Josee Normand, Vineeta Sharma, Arathi Ranga, Alexander Rubin and 26 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

36 authors.

Florian BuergerDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-2655-387X
Daanya SalmanullahDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Lorrin LiangDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-8365-9833
Victoria GauntnerDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Kavita KruegerDepartment of Pharmacology, Dalhousie University, Halifax, NS, Canada.
Jiansong QiDepartment of Pharmacology, Dalhousie University, Halifax, NS, Canada.
Josee NormandDepartment of Pharmacology, Dalhousie University, Halifax, NS, Canada.
Vineeta SharmaDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Arathi RangaDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Alexander RubinDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
David BallDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Sunwoo HongDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Katharina LembergDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0009-0005-1725-9152
Ken SaidaDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4686-6147
Lea Maria MerzDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Sanja SeverDepartment of Medicine, Harvard Medical School, Boston, MA, USA.
Biju IssacResearch Informatics, Information Technology, Boston Children's Hospital, Boston, MA, USA.
Qianyi MaResearch Informatics, Information Technology, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-6555-7446
Liang SunResearch Informatics, Information Technology, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0321-9222
Anja M BillingDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-5770-5496
Fatih DemirDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-5744-0205
Markus M RinschenHamburg Center for Kidney Health (HCKH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID http://orcid.org/0000-0002-9252-1342
Björn ReuschInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.
Bodo B BeckInstitute of Human Genetics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany.
Sergio Guerrero-CastilloUniversity Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Nephrotic Syndrome Study Network (NEPTUNE)
Alexis C GomezDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Michelle T McNultyDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-2080-0940
Matthew G SampsonDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-9560-076X
Mohamed H Al-HamedClinical Genomics Department, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.ORCID http://orcid.org/0000-0002-7207-6122
Mohammed M SalehSection of Medical Genetics, Children Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Mohamed A ShalabyPediatric Nephrology Centre of Excellence, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
Jameela A KariPediatric Nephrology Centre of Excellence, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
James P FawcettDepartment of Pharmacology, Dalhousie University, Halifax, NS, Canada.ORCID http://orcid.org/0000-0003-0043-2164
Friedhelm HildebrandtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. friedhelm.hildebrandt@childrens.harvard.edu.ORCID http://orcid.org/0000-0002-7130-0030
Amar J MajmundarDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. amar.majmundar@childrens.harvard.edu.ORCID http://orcid.org/0000-0002-9891-178X

Funding

Engagement and Dissemination CoreU2CTR002818 · CINCINNATI CHILDRENS HOSP MED CTR · 2025 to 2025
$5.6M
RESEARCH TRAINING IN PEDIATRIC NEPHROLOGYT32DK007726 · CHILDREN'S HOSPITAL BOSTON · 1994 to 2005
$1.2M
Child Health ResearcH Career Development Award (CHRCDA) Program (K12)K12HD052896 · NICHD · BOSTON CHILDREN'S HOSPITAL · 2022 to 2025
$927k
Role of proteolytic suPAR fragment in insulin dependent diabetes and kidney diseaseR01DK133364 · UNIVERSITY OF TEXAS MED BR GALVESTON · 2025 to 2025
$662k
Delineation of pathogenic mechanisms of NOS1AP and TRIM8 mutations in monogenic SRNS/FSGS.K08DK125768 · BOSTON CHILDREN'S HOSPITAL · 2025 to 2025
$168k
NCATS NIH HHS U2C TR002818NICHD NIH HHS K12 HD052896NIDDK NIH HHS K08 DK125768NIDDK NIH HHS R01 DK076683NIDDK NIH HHS R01 DK119380NIDDK NIH HHS R01 DK133364NIDDK NIH HHS RC2 DK122397NIDDK NIH HHS T32 DK007726NIDDK NIH HHS U54 DK083912
6 · The paper itself

Abstract

In genetic disease, an accurate expression landscape of disease genes and faithful animal models can facilitate genetic diagnoses and therapeutic advances respectively. Previously, we found that variants in NOS1AP, the gene that encodes nitric oxide synthase 1 adaptor protein, cause monogenic nephrotic syndrome. Here, we determine that an intergenic splice product of NOS1AP/Nos1ap and neighboring C1orf226/Gm7694, which prevents NOS1AP from binding to nitric oxide synthase 1, is the predominant isoform in mammalian kidney transcriptional and proteomic data. Gm7694

Indexed as

Nephrotic SyndromeProteinuriaAdaptor Proteins, Signal TransducingAnimalsDisease Models, AnimalFemaleHumansKidneyMaleMiceMice, KnockoutNitric Oxide Synthase Type IAdaptor Proteins, Signal TransducingNitric Oxide Synthase Type INOS1AP protein, human

Identifiers

PMID41309577
PMCPMC12660744

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.