Evidence map›Paper›PMID 28099461›Full record

ArticlePloS one2017

Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1.

Daniel L Faden, Saurabh Asthana, Tarik Tihan, Joseph DeRisi, Michel Kliot

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.9field-weighted citation impact, top 15% 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

15 citing papers in PubMed, 18 citations in OpenAlex.

  1. Biomarker Landscape in RASopathies.International journal of molecular sciences · 2024
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  10. Spatiotemporal Loss ofCancer discovery · 2019
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Daniel L FadenDepartment of Otolaryngology-Head and Neck Surgery, University of California San Francisco, San Francisco, California, United States of America.
Saurabh AsthanaHelen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, United States of America.
Tarik TihanDepartment of Pathology, University of California San Francisco, San Francisco, California, United States of America.
Joseph DeRisiDepartment of Biochemistry and Biophysics, University of California San Francisco, San Francisco, California, United States of America.
Michel KliotDepartment of Neurosurgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
University of California, San Francisco · USNorthwestern University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying loci, are poorly understood. We performed whole exome sequencing of three growing and three non-growing neurofibromas from a single individual to assess the role of acquired somatic mutations in neurofibroma growth behavior. 1-11 mutations were identified in each sample, including two deleterious NF1 mutations. No trends were present between the types of somatic mutations identified and growth behavior. Mutations in the HIPPO signaling pathway appeared to be overrepresented.

Indexed as

Genes, Neurofibromatosis 1AdultBase SequenceExomeHippo Signaling PathwayHumansNeurofibromaNeurofibromatosis 1Neurofibromin 1Protein Serine-Threonine KinasesSequence Analysis, DNANeurofibromin 1Protein Serine-Threonine Kinases

Identifiers

PMID28099461
PMCPMC5242532
OpenAlexW2573908510

What Socratic 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 Socratic graph.