Evidence map›Paper›PMID 41844828›Full record

ArticleJournal of human genetics2026

Allelic variation in the ATP7B gene promoter. Implications for phenotype variability, neurodegeneration and Pt resistance in tumor diseases.

Simona Incollu, Isadora Asunis, Stefania Satta, Salvatore Savasta, Georgios Loudianos

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Article in Journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Simona IncolluInstitute of Genetic and Biomedical Research (IRGB), National Research Council (CNR), Monserrato, Italy.
Isadora AsunisInstitute of Genetic and Biomedical Research (IRGB), National Research Council (CNR), Monserrato, Italy.
Stefania SattaLaboratorio di Genetica e Genomica, Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, c/o Ospedale Pediatrico "A. Cao", Cagliari, Italy.
Salvatore SavastaClinica Pediatrica e Malattie Rare, Università degli Studi di Cagliari, Ospedale Pediatrico "A. Cao", Cagliari, Italy.
Georgios LoudianosClinica Pediatrica e Malattie Rare, Università degli Studi di Cagliari, Ospedale Pediatrico "A. Cao", Cagliari, Italy. gloudian@yahoo.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Wilson's disease (WD) is a rare genetic disorder of copper transport due to mutations in the ATP7B gene. This results in copper overload and tissue damage that is most evident in the liver and brain. Over 1000 pathogenic mutations have been found in WD patients, and of these, mutations within the ATP7B coding region predominate. In this study, we perform functional analyses of 7 rare sequence variations in the promoter region of the ATP7B gene. We performed dual luciferase reporter assays in HepG2 and SH-SY5Y cell lines under basal conditions and after the addition of 10 μM or 40 μM concentrations of CuSO

Indexed as

AllelesCopper-Transporting ATPasesHepatolenticular DegenerationPromoter Regions, GeneticCell Line, TumorCopperHaplotypesHep G2 CellsHumansMutationPhenotypeATP7B protein, humanCopperCopper-Transporting ATPases

Identifiers

PMID41844828

What OpenQuestion holds

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Registered trials

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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.