Evidence map›Paper›PMID 35368949›Full record

ArticleJournal of healthcare engineering2022

A Novel NCSTN Mutation in a Three-Generation Chinese Family with Hidradenitis Suppurative.

Chengling Liu, Xingchen Liu, Rui Wang, Lang Chen, Hua Zhao, Yong Zhou

RetractedOpen access · hybridAbstract readRetracted Publication
In one paragraph

Article in Journal of healthcare engineering, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.5field-weighted citation impact, top 19% 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, 7 citations in OpenAlex.

  1. Article
  2. Genetic factors associated with hidradenitis suppurativa, a literature review.International journal of women's dermatology · 2024
    Review
  3. Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Chengling LiuDepartment of Dermatology, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China.ORCID 0000-0001-9592-7017
Xingchen LiuDepartment of Pathology, Changhai Hospital, Navy Medical University, Shanghai 200433, China.ORCID 0000-0002-3761-3519
Rui WangDepartment of Dermatology, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China.ORCID 0000-0001-8838-7673
Lang ChenBeijing Mygenostics Co, LTD., Beijing 101318, China.ORCID 0000-0002-3536-1004
Hua ZhaoDepartment of Dermatology, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China.ORCID 0000-0001-7139-1844
Yong ZhouDepartment of Dermatology, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China.ORCID 0000-0002-9435-6766
Chinese PLA General Hospital · CNSecond Military Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Hidradenitis suppurativa (HS) is a rare autosomal dominant condition characterized by inflamed nodules, cysts, deep abscesses, draining sinuses in the axillae, inguinal, and anogenital regions. Mutations in the NCSTN gene have been perceived to be responsible for the major underlying changes in the disorder. The purpose of this study is to identify a novel gene mutation in a Chinese family with HS. Methods: A Chinese family with HS present was investigated. The proband had manifested with multiple draining sinuses on the posterior neck, chest, bilateral axillae, and perineal regions. DNA was isolated from the peripheral blood of the family members. The encoding exons with introns of the NCSTN gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. Sanger sequencing was performed to confirm the next-generation sequencing results and to analyze each mutation's familial segregation. Furthermore, the identified mutation was localized onto a 3D structure model using the DeepView Swiss-PdbViewer 4.1 software. Results: In this family comprising 10 HS patients, one novel mutation of the NCSTN gene was identified, involving a deletion mutation (c.447delC(p.N150Ifs Conclusion: Our study reports the identification of a novel mutation that causes familial HS and could expand the spectrum of mutations in the

Indexed as

Hidradenitis SuppurativaAmyloid Precursor Protein SecretasesAsian PeopleChinaHumansMembrane GlycoproteinsMutationAmyloid Precursor Protein SecretasesMembrane Glycoproteinsnicastrin protein

Identifiers

PMID35368949
PMCPMC8970804
OpenAlexW4220821565

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.