Evidence map›Paper›PMID 26484179›Full record

ArticleGenomics data2015

Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing.

Jinxin Li, Qinghai Huang, Liang Ge, Jing Xu, Xingjuan Shi, Wei Xie, Xiang Liu, Xiangdong Liu

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

Article in Genomics data, 2015. 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
0.3field-weighted citation impact, top 38% 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. Article
  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 1 institution in 1 country.

Jinxin LiKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, China.
Qinghai HuangKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, China.
Liang GeKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, China.
Jing XuKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, China.
Xingjuan ShiKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, China.
Wei XieKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, China.
Xiang LiuHainan Medical University, Hainan 571199, China.
Xiangdong LiuKey Laboratory of Developmental Genes and Human Diseases, Institute of Life Sciences, Southeast University, Nanjing 210096, China.
Southeast University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, were selected for whole exome sequencing (WES) using the Illumina HiSeq platform. Sequence variations were identified using the SoftGenetics program. The mutation R1448C of SCN4A was found to be the only causative mutation. This study applied WES technology to sequence multiple members of a large PC family and was the first to systematically confirm that the genetic change in SCN4A is the only causative variation in this PC family and the SCN4A mutation is sufficient to lead to PC.

Indexed as

Neuromuscular disorderParamyotonia congenita (PC)Sodium channelVoltage-gated type IV alpha subunit (SCN4A)Whole exome sequencing (WES)

Identifiers

PMID26484179
PMCPMC4535863
OpenAlexW2067031257

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.