Evidence map›Paper›PMID 38983105›Full record

ArticleMolecular genetics and metabolism reports2024

Familial schwannomatosis carrying

Masaki Ibe, Shinobu Tamura, Hideki Kosako, Yusuke Yamashita, Masamichi Ishii, Masaoh Tanaka, Hiroyuki Mishima, Akira Kinoshita, Sadahiro Iwabuchi, Shuhei Morita and 4 more

Abstract readCase Reports
In one paragraph

Article in Molecular genetics and metabolism reports, 2024. 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

14 authors.

Masaki IbePostgraduate Clinical Training Center, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8509, Japan.
Shinobu TamuraDepartment of Emergency and Critical Care Medicine, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8509, Japan.
Hideki KosakoDepartment of Hematology/Oncology, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8509, Japan.
Yusuke YamashitaDepartment of Hematology/Oncology, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8509, Japan.
Masamichi IshiiDepartment of Neurosurgery, Wakayama Medical University, 811-1 Kimiidera, 641-8509 Wakayama, Japan.
Masaoh TanakaDepartment of Emergency and Critical Care Medicine, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8509, Japan.
Hiroyuki MishimaDepartment of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8521, Japan.
Akira KinoshitaDepartment of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8521, Japan.
Sadahiro IwabuchiDepartment of Molecular Pathophysiology, Wakayama Medical University, 811-1 Kimiidera, 641-8509 Wakayama, Japan.
Shuhei MoritaThe First Department of Internal Medicine, Wakayama Medical University, 811-1 Kimiidera, 641-8509 Wakayama, Japan.
Ko-Ichiro YoshiuraDepartment of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8521, Japan.
Shinichi HashimotoDepartment of Molecular Pathophysiology, Wakayama Medical University, 811-1 Kimiidera, 641-8509 Wakayama, Japan.
Naoyuki NakaoDepartment of Neurosurgery, Wakayama Medical University, 811-1 Kimiidera, 641-8509 Wakayama, Japan.
Shigeaki InoueDepartment of Emergency and Critical Care Medicine, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-8509, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Schwannomatosis (SWN) is a rare genetic condition characterized by the risk of developing multiple benign peripheral nerve sheath tumors; however, the risk of developing malignant tumors in patients with SWN remains unclear. This study described the case of a 57-year-old Japanese man diagnosed with SWN whose older brother also had SWN. Whole-exome sequencing identified a heterozygous mutation [c.1018C > T (p.Arg340X)] in the

Indexed as

Brain tumorFamilial schwannomatosisLZTR1Oxidative stressRAS/MAPK pathway

Identifiers

PMID38983105
PMCPMC11231591

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Registered trials

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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.