Evidence map›Paper›PMID 34833108›Full record

ArticleLife (Basel, Switzerland)2021

Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding

Ching-Ming Lin, Jay-How Yang, Hwei-Jen Lee, Yu-Pang Lin, Li-Ping Tsai, Chih-Sin Hsu, G W Gant Luxton, Chih-Fen Hu

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

Article in Life (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-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

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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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
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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 6 institutions in 2 countries.

Ching-Ming LinDepartment of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei 11490, Taiwan.
Jay-How YangCenter for Applied Structural Discovery, Biodesign Institute, Arizona State University, Tempe, AZ 85281, USA.
Hwei-Jen LeeDepartment of Biochemistry, National Defense Medical Center, Taipei 11490, Taiwan.
Yu-Pang LinDepartment of Radiology, Tri-Service General Hospital, National Defense Medical Center, Taipei 11490, Taiwan.
Li-Ping TsaiDepartment of Pediatrics, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei 23142, Taiwan.
Chih-Sin HsuGenomics Center for Clinical and Biotechnological Applications of Cancer Progression Research Center, National Yang Ming Chiao Tung University, Taipei 11221, Taiwan.
G W Gant LuxtonDepartment of Molecular and Cellular Biology, University of California-Davis, Davis, CA 95616, USA.ORCID 0000-0002-6180-8906
Chih-Fen HuDepartment of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei 11490, Taiwan.ORCID 0000-0002-9208-0890
Tri-Service General Hospital · TWArizona State University · USNational Defense Medical Center · TWNational Yang Ming Chiao Tung University · TWTaipei Tzu Chi Hospital · TWUniversity of California, Davis · US

Funding

Medical Affairs Bureau, Ministry of National Defense MND-MAB-110-053Tri-Service General Hospital TSGH-D-110038; TSGH-D-110039
6 · The paper itself

Abstract

backgroundCockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. CS is typically caused by mutations in the excision repair cross-complementing protein group 6 (

methodsWe used iterative threading assembly refinement (I-TASSER) to generate a predictive 3D structure of CSB. We calculated the change of mutation energy after residues substitution on the protein stability using I-TASSER as well as the artificial intelligence program Alphafold.

resultsThe Asp532Gly variant destabilized both modeled structures, while the Leu536Trp variant showed no effect on I-TASSER's model but destabilized the Alphafold's modeled structure.

conclusionsWe propose here the first case of CS associated with a novel homozygous missense mutation (Leu536Trp) in CSB. Furthermore, we suggest that the Asp532Gly and Leu536Trp variants are both pathogenic after bioinformatic analysis of protein stability.

Indexed as

Cockayne syndrome BERCC6progeroidtranscription-coupled nucleotide excision repair (TC-NER)whole exome sequencing

Identifiers

PMID34833108
PMCPMC8618937
OpenAlexW3212889048

What OpenQuestion holds

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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.