Evidence mapPaperPMID 40806509Full record

ReviewInternational journal of molecular sciences2025

Understanding the Molecular Basis of Miller-Dieker Syndrome.

Gowthami Mahendran, Jessica A Brown

Abstract readReview
In one paragraph

Review 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. 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

2 authors.

Gowthami MahendranDepartment of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN 46556, USA.ORCID 0000-0002-6264-4501
Jessica A BrownDepartment of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN 46556, USA.ORCID 0000-0001-9055-5939

Funding

Henry Luce Foundation NoneNIGMS NIH HHS R35 GM133696NIH HHS 1R35GM133696-05University of Notre Dame Berthiaume Institute for Precision Health Discovery Fund Award
6 · The paper itself

Abstract

Miller-Dieker Syndrome (MDS) is a rare neurodevelopmental disorder caused by a heterozygous deletion of approximately 26 genes within the MDS locus of human chromosome 17. MDS, which affects 1 in 100,000 babies, can lead to a range of phenotypes, including lissencephaly, severe neurological defects, distinctive facial abnormalities, cognitive impairments, seizures, growth retardation, and congenital heart and liver abnormalities. One hallmark feature of MDS is an unusually smooth brain surface due to abnormal neuronal migration during early brain development. Several genes located within the MDS locus have been implicated in the pathogenesis of MDS, including

Indexed as

Classical Lissencephalies and Subcortical Band HeterotopiasAnimalsHumansSignal TransductionWnt Signaling Pathwaygene expressionlissencephalyMDSrare diseasetherapeutics

Identifiers

PMID40806509
PMCPMC12347932

What Socratic holds

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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 Socratic graph.