Evidence map›Paper›PMID 40854126›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2025

SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

Sravan Perla, Amy L Stiegler, Jae-Sung Yi, Liz Enyenihi, Lei Zhang, Muhammad Riaz, Elvira An, Yibing Qyang, Titus J Boggon, Anton M Bennett

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. The 9th International RASopathies Symposium.American journal of medical genetics. Part A · 2026
    Article
  3. Article
  4. Article
  5. 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

10 authors.

Sravan PerlaDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.ORCID 0000-0003-4925-6720
Amy L StieglerDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.
Jae-Sung YiDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.
Liz EnyenihiDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.
Lei ZhangDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.
Muhammad RiazYale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06511.
Elvira AnDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.ORCID 0000-0001-8024-7975
Yibing QyangYale Cardiovascular Research Center, Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06511.ORCID 0000-0002-0332-2449
Titus J BoggonDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.
Anton M BennettDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06520.ORCID 0000-0001-5187-7599

Funding

Medical Scientist Training ProgramT32GM144273 · NIGMS · HARVARD MEDICAL SCHOOL · PI David Shumway Jones, Jacqueline A. Lees · 2022 to 2026
$14.7M
NIGMS NIH HHS T32 GM144273
6 · The paper itself

Abstract

Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder caused by mutations in

Indexed as

Homeodomain ProteinsLEOPARD SyndromeProtein Tyrosine Phosphatase, Non-Receptor Type 11Transcription FactorsAnimalsHumansMiceMutationPhosphorylationras ProteinsSignal TransductionHomeodomain ProteinsProtein Tyrosine Phosphatase, Non-Receptor Type 11PTPN11 protein, humanPtpn11 protein, mouseras ProteinsTranscription Factorshypertrophic cardiomyopathyNoonan syndrome with multiple lentigenesprotein tyrosine phosphatasesSH2 domaintranscription factors

Identifiers

PMID40854126
PMCPMC12415285

What OpenQuestion 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 OpenQuestion graph.