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

Buerger F, Salmanullah D, Liang L, Gauntner V, Krueger K, Qi J, Normand J, Sharma V, Ranga A, Rubin A, Ball D, Hong S, Lemberg K, Saida K, Merz LM, Sever S, Issac B, Ma Q, Sun L, Billing AM, Demir F, Rinschen MM, Reusch B, Beck BB, Guerrero-Castillo S, Nephrotic Syndrome Study Network (NEPTUNE), Gomez AC, McNulty MT, Sampson MG, Al-Hamed MH, Saleh MM, Shalaby MA, Kari JA, Fawcett JP, Hildebrandt F, Majmundar AJ

Open source

DOI: 10.1038/s41467-025-65663-6
Published: 2025 Nov 27
Container: Nature communications
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1038/s41467-025-65663-6,
  title = {Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.},
  author = {Buerger F and Salmanullah D and Liang L and Gauntner V and Krueger K and Qi J and Normand J and Sharma V and Ranga A and Rubin A and Ball D and Hong S and Lemberg K and Saida K and Merz LM and Sever S and Issac B and Ma Q and Sun L and Billing AM and Demir F and Rinschen MM and Reusch B and Beck BB and Guerrero-Castillo S and Nephrotic Syndrome Study Network (NEPTUNE) and Gomez AC and McNulty MT and Sampson MG and Al-Hamed MH and Saleh MM and Shalaby MA and Kari JA and Fawcett JP and Hildebrandt F and Majmundar AJ},
  year = {2025},
  journal = {Nature communications},
  doi = {10.1038/s41467-025-65663-6},
  url = {https://doi.org/10.1038/s41467-025-65663-6}
}

RIS

TY  - JOUR
TI  - Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
AU  - Buerger F
AU  - Salmanullah D
AU  - Liang L
AU  - Gauntner V
AU  - Krueger K
AU  - Qi J
AU  - Normand J
AU  - Sharma V
AU  - Ranga A
AU  - Rubin A
AU  - Ball D
AU  - Hong S
AU  - Lemberg K
AU  - Saida K
AU  - Merz LM
AU  - Sever S
AU  - Issac B
AU  - Ma Q
AU  - Sun L
AU  - Billing AM
AU  - Demir F
AU  - Rinschen MM
AU  - Reusch B
AU  - Beck BB
AU  - Guerrero-Castillo S
AU  - Nephrotic Syndrome Study Network (NEPTUNE)
AU  - Gomez AC
AU  - McNulty MT
AU  - Sampson MG
AU  - Al-Hamed MH
AU  - Saleh MM
AU  - Shalaby MA
AU  - Kari JA
AU  - Fawcett JP
AU  - Hildebrandt F
AU  - Majmundar AJ
PY  - 2025
JO  - Nature communications
DO  - 10.1038/s41467-025-65663-6
UR  - https://doi.org/10.1038/s41467-025-65663-6
ER  -

APA

F, B., D, S., L, L., V, G., K, K., J, Q., J, N., V, S., A, R., A, R., D, B., S, H., K, L., K, S., LM, M., S, S., B, I., Q, M., L, S., AM, B., F, D., MM, R., B, R., BB, B., S, G., (NEPTUNE), N. S. S. N., AC, G., MT, M., MG, S., MH, A., MM, S., MA, S., JA, K., JP, F., F, H., & AJ, M. (2025). Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.. Nature communications. https://doi.org/10.1038/s41467-025-65663-6

Source records

pubmed · retrieved 2026-09-27T10:15:39.489Z