Evidence map›Paper›PMID 39062695›Full record

ReviewGenes2024

Phenotypic Expansion of Autosomal Dominant

Vera Uliana, Enrico Ambrosini, Antonietta Taiani, Sofia Cesarini, Ilenia Rita Cannizzaro, Anna Negrotti, Walter Serra, Gabriele Quintavalle, Lucia Micale, Carmela Fusco and 7 more

Abstract readReview
In one paragraph

Review in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Hybrid schwannoma-neurofibroma of the upper cervical spine: illustrative case and systematic review of spinal hybrid nerve sheath tumors.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026
    Pooled it
  2. Article
  3. Article
  4. Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Article
  5. GH Therapy in Non-Growth Hormone-Deficient Children.Children (Basel, Switzerland) · 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

17 authors.

Vera UlianaMedical Genetics, University Hospital of Parma, 43126 Parma, Italy.
Enrico AmbrosiniMedical Genetics, University Hospital of Parma, 43126 Parma, Italy.
Antonietta TaianiMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0009-0004-4282-6801
Sofia CesariniMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Ilenia Rita CannizzaroMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Anna NegrottiNeurology Unit, University Hospital of Parma, 43126 Parma, Italy.
Walter SerraUnit of Cardiology, University Hospital of Parma, 43126 Parma, Italy.ORCID 0000-0002-3530-1239
Gabriele QuintavalleRegional Reference Centre for Inherited Bleeding Disorders, University Hospital of Parma, 43126 Parma, Italy.ORCID 0000-0002-1999-4485
Lucia MicaleDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, San Giovanni Rotondo, 71013 Foggia, Italy.ORCID 0000-0003-3604-194X
Carmela FuscoDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, San Giovanni Rotondo, 71013 Foggia, Italy.ORCID 0000-0001-7794-6046
Marco CastoriDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, San Giovanni Rotondo, 71013 Foggia, Italy.
Davide MartoranaMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0002-7572-7031
Beatrice BortesiMedical Oncology Unit, University Hospital of Parma, 43126 Parma, Italy.
Laura BelliNeurosurgery Unit, Head and Neck Department, University Hospital of Parma, 43126 Parma, Italy.
Antonio PercesepeMedical Genetics, University Hospital of Parma, 43126 Parma, Italy.ORCID 0000-0002-3268-6786
Francesco PisaniChild Neurology and Psychiatry Unit, Department of Human Neuroscience, Sapienza University, Via dei Sabelli 108, 00185 Rome, Italy.ORCID 0000-0002-1083-5576
Valeria BariliMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0001-7711-2156

Funding

European Union P2022M9SRW
6 · The paper itself

Abstract

Leucine zipper-like transcription regulator 1 (LZTR1) acts as a negative factor that suppresses RAS function and MAPK signaling; mutations in this protein may dysregulate RAS ubiquitination and lead to impaired degradation of RAS superfamily proteins. Germline

Indexed as

NeurilemmomaNoonan SyndromePhenotypeAdultAge of OnsetFemaleGenes, DominantHumansMaleMiddle AgedMutationNeurofibromatosesParkinson DiseaseSkin NeoplasmsTrans-ActivatorsTranscription FactorsLZTR1 protein, humanTrans-ActivatorsTranscription Factorsgeneralized joint hypermobilityLZTR1Noonan syndromeschwannomatosis

Identifiers

PMID39062695
PMCPMC11276570

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.