Evidence map›Paper›PMID 40476564›Full record

ArticleMolecular medicine reports2025

A novel variant in the

Yufu Lu, Sijia Wei, Shuang Wang, Jingzhi Zhang, Yongjie Xu, Changyudong Huang, Wei Pan, Zhengrong Wang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular medicine reports, 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

8 authors.

Yufu Lu *Guizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, P.R. China.
Sijia Wei *Guizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, P.R. China.
Shuang Wang *Guizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, P.R. China.
Jingzhi ZhangGuizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, P.R. China.
Yongjie XuGuizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, P.R. China.
Changyudong HuangGuizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, P.R. China.
Wei PanGuizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, P.R. China.
Zhengrong WangGuizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, P.R. China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Disorders of sex development (DSDs) are characterized by discrepancies among karyotype, the gonadal phenotype and gonadal anatomy following birth. Among these, 46, XY DSD is the most complex sub‑type and a major cause of birth defects associated with sexual development. However, due to the considerable heterogeneity in pathogenic genes, numerous cases remain genetically undiagnosed. In the present study, a novel gain‑of‑function variant was identified in the mitogen‑activated protein 3 kinase 1 (

Indexed as

ApoptosisDisorder of Sex Development, 46,XYGenetic LociMAP Kinase Kinase Kinase 1ChildHumansMalePedigreeSOX9 Transcription FactorMAP3K1 protein, humanMAP Kinase Kinase Kinase 1SOX9 Transcription Factorapoptosisbirth defectsdisorders of sex developmentmitogen‑activated protein 3 kinase 1variant

Identifiers

PMID40476564
PMCPMC12175139

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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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.