Evidence map›Paper›PMID 36267363›Full record

ArticleInternational journal of endocrinology2022

Identification and Functional Characterization of a Novel Variant in the

Meng Shu, Huixiao Wu, Shuoshuo Wei, Yingzhou Shi, Zongyue Li, Yiping Cheng, Li Fang, Chao Xu

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

Article in International journal of endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 46% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Article
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

8 authors at 2 institutions in 1 country.

Meng ShuDepartment of Endocrinology and Metabolism, Shandong Provincial Hospital, Shandong University, Jinan, Shandong 250021, China.ORCID https://orcid.org/0000-0002-6725-3497
Huixiao WuDepartment of Endocrinology and Metabolism, Shandong Provincial Hospital, Shandong University, Jinan, Shandong 250021, China.ORCID https://orcid.org/0000-0002-6839-1648
Shuoshuo WeiDepartment of Endocrinology and Metabolism, Shandong Provincial Hospital, Shandong University, Jinan, Shandong 250021, China.ORCID https://orcid.org/0000-0003-3474-3075
Yingzhou ShiDepartment of Endocrinology and Metabolism, Shandong Provincial Hospital, Shandong University, Jinan, Shandong 250021, China.ORCID https://orcid.org/0000-0002-0523-0943
Zongyue LiDepartment of Endocrinology and Metabolism, Shandong Provincial Hospital, Shandong University, Jinan, Shandong 250021, China.ORCID https://orcid.org/0000-0002-8989-0999
Yiping ChengDepartment of Endocrinology and Metabolism, Shandong Provincial Hospital, Shandong University, Jinan, Shandong 250021, China.ORCID https://orcid.org/0000-0002-7092-508X
Li FangShandong Provincial Key Laboratory of Endocrinology and Lipid Metabolism, Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, Jinan, Shandong 250021, China.ORCID https://orcid.org/0000-0002-8921-2143
Chao XuDepartment of Endocrinology and Metabolism, Shandong Provincial Hospital, Shandong University, Jinan, Shandong 250021, China.ORCID https://orcid.org/0000-0001-6743-8881
Shandong University · CNShandong Academy of Chinese Medicine · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Kallmann syndrome (KS) is a rare genetic disease characterized by the reproductive system and olfactory dysplasia due to the defective migration of gonadotropin-releasing hormone (GnRH) neurons. However, this disorder is clinically heterogeneous and the genotype-phenotype relationship has not been determined. Objective: The present study aimed to identify the variant causing KS in a Chinese family and evaluate the functional consequences and phenotypes associated with the novel variant. Methods: A Chinese family with KS was screened for pathogenic variants by whole-exome sequencing (WES). Bioinformatic analysis was performed to predict the consequences of the identified variant. The expression of the mutant protein was examined Results: A novel heterozygous variant (NM_006080.2 : c.814G > Conclusion: Identification and functional characterization of this novel variant in the

Identifiers

PMID36267363
PMCPMC9578889
OpenAlexW4304474600

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.