Evidence map›Paper›PMID 40860288›Full record

ArticleHuman mutation2025

Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.

Tahir N Khan, Chunyu Liu, Kai Lee Yap, Humayoon Shafique Satti, Ayaz Khan, Muhammad Safeer, Sheraz Khan, Naveed Altaf Malik, Feng Zhang, Muhammad Tariq and 1 more

Abstract read
In one paragraph

Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

11 authors.

Tahir N KhanAdvanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.ORCID 0000-0003-3096-8795
Chunyu LiuInternational Peace Maternity and Child Health Hospital, Shanghai Key Laboratory of Embryo Original Diseases, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Kai Lee YapDepartment of Pathology & Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.ORCID 0000-0003-4496-5464
Humayoon Shafique SattiDepartment of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.ORCID 0000-0003-2139-6633
Ayaz KhanNational Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.ORCID 0000-0002-4743-7387
Muhammad SafeerDepartment of Biotechnology and Genetic Engineering, Hazara University, Mansehra, Pakistan.
Sheraz KhanAdvanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Naveed Altaf MalikNational Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.ORCID 0000-0002-7392-9449
Feng ZhangInternational Peace Maternity and Child Health Hospital, Shanghai Key Laboratory of Embryo Original Diseases, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.ORCID 0000-0003-4556-8276
Muhammad TariqNational Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.ORCID 0000-0002-5334-403X
Erica E DavisAdvanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.ORCID 0000-0002-2412-8397

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder hallmarked by mucocutaneous melanocytic macules and gastrointestinal hamartomatous polyposis associated with germline/somatic pathogenic variants in the tumor suppressor

Indexed as

Gene Expression ProfilingPeutz-Jeghers SyndromeProtein Serine-Threonine KinasesTranscriptomeAdultAMP-Activated Protein Kinase KinasesFemaleGerm-Line MutationHumansMalePedigreeAMP-Activated Protein Kinase KinasesProtein Serine-Threonine KinasesSTK11 protein, humancase reportdisease severityDNA repairp53 signaling

Identifiers

PMID40860288
PMCPMC12373473

What OpenQuestion holds

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LicenceCC BY
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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.