Evidence map›Paper›PMID 40970474›Full record

ArticleClinical genetics2026

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.

Zachary T Sentell, Anthony C T Cheung, Felicia Russo, Chantal Bernard, Rita Suri, Andrey V Cybulsky, Daniela Buhas, Thomas M Kitzler

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

8 authors.

Zachary T SentellDepartment of Human Genetics, McGill University, Montreal, Canada.ORCID 0000-0001-6005-7111
Anthony C T CheungDepartment of Human Genetics, McGill University, Montreal, Canada.
Felicia RussoDepartment of Human Genetics, McGill University, Montreal, Canada.ORCID 0000-0001-6489-5817
Chantal BernardDepartment of Pathology, McGill University Health Centre, Montreal, Canada.
Rita SuriDivision of Nephrology, Department of Medicine, McGill University Health Centre, Montreal, Canada.
Andrey V CybulskyDivision of Nephrology, Department of Medicine, McGill University Health Centre, Montreal, Canada.
Daniela BuhasDepartment of Human Genetics, McGill University, Montreal, Canada.
Thomas M KitzlerDepartment of Human Genetics, McGill University, Montreal, Canada.ORCID 0009-0006-1537-5237

Funding

CIHR 187668Fonds de Recherche du Québec - Santé 298636Sick Kids Foundation NI21-1159
6 · The paper itself

Abstract

An adult with kidney failure had compound-heterozygous TMEM126B variants causing mitochondrial complex I deficiency. This expands TMEM126B to mitochondrial nephropathy and supports including mitochondrial genes in renal genetic testing.

Indexed as

Genetic Predisposition to DiseaseMembrane ProteinsMitochondrial DiseasesRenal InsufficiencyAdultAllelesFemaleGenetic TestingHumansMaleMitochondriaMutationMembrane Proteinsgenetic testingkidney failuremitochondrial complex I deficiencymitochondrial nephropathyTMEM126B

Identifiers

PMID40970474
PMCPMC12674972

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.