Evidence map›Paper›PMID 28096187›Full record

ArticleJournal of medical genetics2017

Guangqian Xing, Jun Yao, Chunyu Liu, Qinjun Wei, Xuli Qian, Lingxin Wu, Yajie Lu, Xin Cao

Open access · hybridAbstract read
In one paragraph

Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 34% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

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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.

Guangqian XingDepartment of Otolaryngology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Jun YaoDepartment of Biotechnology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China.
Chunyu LiuDepartment of Biotechnology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China.
Qinjun WeiDepartment of Biotechnology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China.
Xuli QianDepartment of Biotechnology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China.
Lingxin WuDepartment of Otolaryngology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Yajie LuDepartment of Biotechnology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China.
Xin CaoDepartment of Biotechnology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China.
Nanjing Medical University · CNJiangsu Province Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundA substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent.

objectiveTo identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL).

methodsTargeted X-chromosome exome sequencing was conducted, and cosegregation analysis was performed in the members of the affected family. The in silico and expression studies were also performed.

resultsA 2-bp missense mutation (c.1717_1718GC>AA, p.A573N) in the G protein-coupled receptor associated sorting protein 2 (

conclusionsThis study presented a novel X-linked SHL combined with unique and unrecognised clinical features, and a missense variation of

Indexed as

Amino Acid SequenceAsian PeopleCarrier ProteinsDeafnessExomeFemaleGenes, X-LinkedGenetic Predisposition to DiseaseHearing LossHumansIntracellular Signaling Peptides and ProteinsMaleMutation, MissensePedigreePhenotypeCarrier ProteinsGPRASP2 protein, humanIntracellular Signaling Peptides and ProteinsClinical geneticsGeneticsGenetic screening/counsellingMolecular genetics

Identifiers

PMID28096187
PMCPMC5502311
OpenAlexW2572365035

What OpenQuestion holds

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LicenceCC BY-NC
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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.