In one paragraphArticle in International journal of molecular sciences, 2024. 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
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
16 authors.
Luca Lo PiccoloCentre of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0003-0558-356X Wasinee WongkummoolCentre of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-7478-240X Phatcharida JantareeCentre of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-7420-5135 Teerada DaroontumDepartment of Pathology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0001-5968-218X Suteeraporn ChaowattanapanitDivision of Dermatology, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.
Charoen ChoonhakarnDivision of Dermatology, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.ORCID 0000-0002-3417-6210 Warayuwadee AmornpinyoDivision of Dermatology, Department of Internal Medicine, Khon Kaen Hospital, Ministry of Public Health, Khon Kaen 40002, Thailand.
Romanee ChaiwarithDivision of Infectious Diseases and Tropical Medicine, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-1241-5954 Salin KiratikanonDivision of Dermatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-1597-7290 Rujira RujiwetpongstornDivision of Dermatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-0256-9343 Napatra TovanabutraDivision of Dermatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Siri ChiewchanvitDivision of Dermatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Chumpol NgamphiwNational Biobank of Thailand, National Center for Genetic Engineering and Biotechnology (BIOTEC), Pathum Thani 12120, Thailand.ORCID 0000-0002-8581-397X Worrachet IntachaiCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0003-3543-8136 Piranit KantaputraCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0001-9841-0881 Mati ChuamanochanDivision of Dermatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-6654-3409 Funding
Chiang Mai University TGCMU2566P011/2566Chiang Mai University Faculty of Medicine Research Fund 001/2565Health System Research Institute
6 · The paper itselfAbstract
Reactive pustular eruptions (RPEs) can manifest in a variety of conditions, including pustular psoriasis (PP) and adult-onset immunodeficiency syndrome due to anti-interferon-γ autoantibody (AOID). These RPEs can be attributed to different causes, one of which is genetic factors. However, the genetic basis for pustular skin diseases remains poorly understood. In our study, we conducted whole-exome sequencing on a cohort of 17 AOID patients with pustular reactions (AOID-PR) and 24 PP patients. We found that 76% and 58% of the AOID-PR and PP patients, respectively, carried rare genetic variations within the filaggrin (FLG) gene family. A total of 12 out of 21 SNPs on FLG had previously received clinical classifications, with only p.Ser2706Ter classified as pathogenic. In contrast, none of the FLG3 SNPs identified in this study had prior clinical classifications. Overall, these variations had not been previously documented in cases of pustular disorders, and two of them were entirely novel discoveries. Immunohistochemical analysis of skin biopsies revealed that FLG variants like p.Ser860Trp, p.Gly3903Ter, p.Gly2440Glu, and p.Glu2133Asp caused reductions in FLG levels similar to the pathogenic FLG p.Ser2706Ter. These results highlight rare FLG variants as potential novel genetic risk factors contributing to pustule formation in both AOID and PP.
Indexed as
Asian PeopleFilaggrin ProteinsIntermediate Filament ProteinsPolymorphism, Single NucleotideAdultAgedAutoantibodiesExome SequencingFemaleGenetic Predisposition to DiseaseHumansInterferon-gammaMaleMiddle AgedPsoriasisSkinAutoantibodiesFilaggrin ProteinsFLG protein, humanInterferon-gammaIntermediate Filament ProteinsAOIDfilaggrinpustular psoriasisreactive pustular eruptionswhole-exome sequencing
Identifiers
PMID38928170
PMCPMC11203790
What OpenQuestion holds
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