Evidence map›Paper›PMID 40141433›Full record

ArticleInternational journal of molecular sciences2025

A Novel Homozygous Missense Variant of

Jeerawan Klangjorhor, Natrujee Wiwattanadittakul, Thanapak Jaimalai, Patcharawadee Thongkumkoon, Pitiporn Noisagul, Ratchadaporn Khiaomai, Nutnicha Sirikaew, Nonthanan Moonsan, Arnat Pasena, Pathacha Suksakit and 3 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2025. 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

13 authors.

Jeerawan KlangjorhorCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-4992-5296
Natrujee WiwattanadittakulDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-3368-2330
Thanapak JaimalaiCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Patcharawadee ThongkumkoonCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-5392-9062
Pitiporn NoisagulCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0001-5351-9998
Ratchadaporn KhiaomaiCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Nutnicha SirikaewCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Nonthanan MoonsanDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Arnat PasenaCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0002-3595-8003
Pathacha SuksakitCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Pimpisa TeeyakasemMusculoskeletal Science and Translational Research (MSTR), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Parunya ChaiyawatCenter of Multidisciplinary Technology for Advanced Medicine (CMUTEAM), Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0003-0047-5578
Maliwan TengsujaritkulDepartment of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

Funding

Faculty of Medicine, Chiang Mai University 76-2565NSRF via the Program Management Unit for Human Resources & Institutional Development, Research and Innovation B13F660074the Genomic Thailand Project of the Health Systems Research Institute, Thailand HSRI64-130
6 · The paper itself

Abstract

Phosphatidylinositol glycan class T (PIGT) is part of the glycosylphosphatidylinositol transamidase (GPI-TA) complex, crucial for various cell functions. Biallelic pathogenic variants in

Indexed as

Abnormalities, MultipleAcyltransferasesAlkaline PhosphataseMuscle HypotoniaMutation, MissenseSeizuresExome SequencingHomozygoteHumansInfant, NewbornSoutheast Asian PeopleThailandAcyltransferasesAlkaline PhosphataseCOOH-terminal signal transamidasemultiple congenital anomalies-hypotonia seizures syndrome 3 (MCAHS3)neonatal hypotoniaPIGTwhole exome sequencing

Identifiers

PMID40141433
PMCPMC11943126

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.