Evidence map›Paper›PMID 38141607›Full record

ArticleAmerican journal of human genetics2024

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.

Erica L Harris, Vincent Roy, Martin Montagne, Ailsa M S Rose, Helen Livesey, Margot R F Reijnders, Emma Hobson, Francis H Sansbury, Marjolein H Willemsen, Rolph Pfundt and 8 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 24% of its field
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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Multiple Endocrine Neoplasia Type 5 due to Germline MAX Mutations: A Systematic Review of Tumor Spectrum and Clinical Features.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026
    Pooled it
  2. Article
  3. Article
  4. MYCN in human development and diseases.Frontiers in oncology · 2024
    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

18 authors at 7 institutions in 3 countries.

Erica L HarrisDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Vincent RoyDépartement de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada.
Martin MontagneDépartement de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada.
Ailsa M S RoseDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Helen LiveseyLeeds Teaching Hospitals NHS Trust, Leeds, UK; All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK.
Margot R F ReijndersDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Emma HobsonLeeds Teaching Hospitals NHS Trust, Leeds, UK.
Francis H SansburyAll Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Cardiff, UK.
Marjolein H WillemsenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Rolph PfundtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Daniel WarrenLeeds Teaching Hospitals NHS Trust, Leeds, UK.
Vernon LongLeeds Teaching Hospitals NHS Trust, Leeds, UK.
Ian M CarrDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Eamonn G SheridanDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK; Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Helen V FirthAddenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK; Wellcome Sanger Institute, Hinxton, Cambridge, UK.
Pierre LavigneDépartement de Biochimie et Génomique Fonctionnelle, PROTÉO et Institut de Pharmacologie de Sherbrooke. University of Sherbrooke, Sherbrooke, QC, Canada. Electronic address: pierre.lavigne@usherbrooke.ca.
James A PoulterDivision of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Electronic address: j.a.poulter@leeds.ac.uk.
University of Leeds · GBLeeds Teaching Hospitals NHS Trust · GBRadboud University Nijmegen · NLUniversité de Sherbrooke · CACardiff and Vale University Health Board · GBErasmus MC · NLUniversity of Cambridge · GB

Funding

Medical Research Council MR/T02044X/1Wellcome Trust
6 · The paper itself

Abstract

Cyclin D2 (CCND2) stabilization underpins a range of macrocephaly-associated disorders through mutation of CCND2 or activating mutations in upstream genes encoding PI3K-AKT pathway components. Here, we describe three individuals with overlapping macrocephaly-associated phenotypes who carry the same recurrent de novo c.179G>A (p.Arg60Gln) variant in Myc-associated factor X (MAX). The mutation, located in the b-HLH-LZ domain, causes increased intracellular CCND2 through increased transcription but it does not cause stabilization of CCND2. We show that the purified b-HLH-LZ domain of MAX

Indexed as

MegalencephalyProto-Oncogene Proteins c-mycBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsDimerizationHumansPhosphatidylinositol 3-KinasesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsMAX protein, humanPhosphatidylinositol 3-KinasesProto-Oncogene Proteins c-mycb-HLH-LZCCND2macrocephalyMAXMYCpolydactyly

Identifiers

PMID38141607
PMCPMC10806738
OpenAlexW4390116446

What OpenQuestion 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 OpenQuestion graph.