Evidence map›Paper›PMID 35242578›Full record

ArticleMolecular genetics and metabolism reports2022

Expression signature of the Leigh syndrome French-Canadian type.

Mbarka Bchetnia, Jessica Tardif, Charles Morin, Catherine Laprise

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

Article in Molecular genetics and metabolism reports, 2022. 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
0.8field-weighted citation impact, top 32% 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, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Review
  6. The Biological Role of LRPPRC in Human Cancers.Cancer control : journal of the Moffitt Cancer Center
    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

4 authors at 2 institutions in 1 country.

Mbarka BchetniaDépartement des sciences fondamentales, Université du Québec à Chicoutimi (UQAC), Saguenay, Canada.
Jessica TardifService de biologie moléculaire et génétique médicale, Centre intégré universitaire de santé et de services sociaux (CIUSSS) du Saguenay-Lac-Saint-Jean, Canada.
Charles MorinDépartement des sciences fondamentales, Université du Québec à Chicoutimi (UQAC), Saguenay, Canada.
Catherine LapriseDépartement des sciences fondamentales, Université du Québec à Chicoutimi (UQAC), Saguenay, Canada.
Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean · CAUniversité du Québec à Chicoutimi · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

As a result of a founder effect, a Leigh syndrome variant called Leigh syndrome, French-Canadian type (LSFC, MIM / 220,111) is more frequent in Saguenay-Lac-Saint-Jean (SLSJ), a geographically isolated region on northeastern Quebec, Canada. LSFC is a rare autosomal recessive mitochondrial neurodegenerative disorder due to damage in mitochondrial energy production. LSFC is caused by pathogenic variants in the nuclear gene leucine-rich pentatricopeptide repeat-containing (

Indexed as

ATP, adénosine-5'-triphosphateCOPD, chronic obstructive pulmonary diseaseCOX, cytochrome c-oxidaseCytochrome c oxidaseDMEM, Dubelcco’s Modified Essential MediumETC, electron transport chainFlc, fold changeGene expressionGO, gene ontologyHES1, hairy and enhancer of split 1HIF-1, hypoxia inducible factor-1Leigh syndromeLeigh syndrome French-Canadian type (LSFC)LRPPRCLRPPRC, leucine-rich pentatricopeptide repeat-containingLSFC, Leigh syndrome, French-Canadian typeMicroarraysMitochondrial chain respirationNAFLD, non-alcoholic fatty liver diseaseND6, NADH dehydrogenase, subunit 6NDUFA4L2NDUFA4L2, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex, 4-like 2OXPHOS, oxidative phosphorylationPFKFB4, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4PPI, protein‐protein interactionqRT-PCR, Real-time PCRrare diseasesRMA, robust multi-array analysisROS, reactive oxygen speciesRPL13A, ribosomal protein L13aSLIRP, stem-loop interacting proteinSLSJ, Saguenay–Lac-Saint-JeanSRA, steroid receptor RNA activator

Identifiers

PMID35242578
PMCPMC8856909
OpenAlexW4210404392

What OpenQuestion 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 OpenQuestion graph.