Evidence map›Paper›PMID 40430072›Full record

ArticleInternational journal of molecular sciences2025

Rare Homozygous Variants in

Ambreen Kanwal, Rimsha Zulfiqar, Husnain Arshad Cheema, Nauman Jabbar, Amina Iftikhar, Amina Iftikhar Butt, Sohail A Sheikh, Jose V Pardo, Sadaf Naz

Abstract read
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. 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. 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

9 authors.

Ambreen KanwalSchool of Biological Sciences, University of the Punjab, Lahore 54000, Pakistan.
Rimsha ZulfiqarSchool of Biological Sciences, University of the Punjab, Lahore 54000, Pakistan.
Husnain Arshad CheemaPunjab Institute of Mental Health, Jail Road, Lahore 54000, Pakistan.
Nauman JabbarPunjab Institute of Mental Health, Jail Road, Lahore 54000, Pakistan.
Amina IftikharRainbow Obesity and Eating Disorders Centre, Shadman, Lahore 54000, Pakistan.
Amina Iftikhar ButtSchool of Biological Sciences, University of the Punjab, Lahore 54000, Pakistan.ORCID 0009-0004-5439-3011
Sohail A SheikhPsychiatry Department, Hawkes Bay DHB, Hastings 4156, New Zealand.
Jose V PardoDepartment of Psychiatry, University of Minnesota, Minneapolis, MN 55455, USA.
Sadaf NazSchool of Biological Sciences, University of the Punjab, Lahore 54000, Pakistan.ORCID 0000-0002-1912-0235

Funding

NIH HHS 1R21MH120692-01A1
6 · The paper itself

Abstract

Psychosis constitutes a cardinal component of schizophrenia and affects nearly fifty percent of those with bipolar disorder. We sought to molecularly characterize psychosis segregating in consanguineous families. Participants from eight multiplex families were evaluated using standardized testing tools. DNA was subjected to exome sequencing followed by Sanger sequencing. Effects of variants were modeled using in-silico tools, while cDNA from a patient's blood sample was analyzed to evaluate the effect of a splice-site variant. Twelve patients in six families were diagnosed with schizophrenia, whereas four patients from two families had psychotic bipolar disorder. Two homozygous rare deleterious variants in

Indexed as

Antigens, CDPsychotic DisordersReceptor, InsulinSchizophreniaAdolescentAdultBipolar DisorderFemaleGenetic Predisposition to DiseaseHomozygoteHumansMaleMutation, MissensePedigreeYoung AdultAntigens, CDINSR protein, humanReceptor, InsulinbipolarconsanguinityexomeINSRNFXL1PakistanRYR1schizophrenia

Identifiers

PMID40430072
PMCPMC12111829

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.