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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene

Molecular Biology Reports(2013)10.1007/s11033-012-2333-1Source: DataRank Database

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene is a research paper published in Molecular Biology Reports (2013). On theSindex it has a DataRank of 1.4. It has been cited 15 times, with 14 citing works in its 1-hop citation network.

N/A

1.4DataRank · unranked

Scored on demand from live citation data

15 citations · 14 citing works in its network

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Linked data & code

omim refseq

DataRank reads this dataset's downstream impact straight off the citation graph — no black box, no proprietary weighting. How is this computed?

›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Impact (FWCI 0.52)OA: hybridTopics (53)IDs (PubMed, PMC, OpenAlex)Annotations (2)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (0/2)

Interoperable (0/2)

Reusable (0/3)

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DataRank Breakdown

Base Score 30%Citation Network 70%

Base Score Contribution

0.416

From this paper's citation signal

Citation Network Contribution

0.986

From 12 citing papers with measurable signal

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Authors (7)

Ikhlass Hadjsalem,Slaheddine Marrakchi,Fatma Trabelsi,Abderrahmen Masmoudi,Hamida Turki

Live enrichment

PubMed:23192619 PMC:PMC3563951 OpenAlex:https://openalex.org/W2024700946

FWCI

0.52

Citation Percentile

0.6%

Citation Trend

2014

2015

2016

2017

2018

2019

2020

2021

2022

2023

2024

hybridLicense: cc-by

journalhttps://link.springer.com/content/pdf/10.1007/s11033-012-2333-1.pdf

publisherhttps://link.springer.com/content/pdf/10.1007/s11033-012-2333-1.pdf

publisherhttp://link.springer.com/content/pdf/10.1007/s11033-012-2333-1

journalhttps://doi.org/10.1007/s11033-012-2333-1

repositoryhttps://pubmed.ncbi.nlm.nih.gov/23192619

Fields of Study

Skin and Cellular Biology ResearchWnt/β-catenin signaling in development and cancerDermatological and Skeletal DisordersAdolescentCodon, NonsenseConsanguinityFemaleFounder EffectGenetic Association StudiesGenotypeHaplotypesHumansIchthyosis, LamellarMaleMicrosatellite RepeatsPedigreePhenotypePolymorphism, Single NucleotideTransglutaminasesTunisiaYoung Adult

MeSH Terms

AdolescentConsanguinityFemaleGenotypeHaplotypesHumansMalePedigreePhenotypeTransglutaminasesTunisiaIchthyosis, LamellarCodon, NonsenseFounder EffectMicrosatellite RepeatsPolymorphism, Single NucleotideYoung AdultGenetic Association Studies

Keywords

GeneticsHaplotypeNonsense mutationLamellar ichthyosisIchthyosisBiologyFounder effectGenodermatosisPedigree chartMutationCompound heterozygosityGeneGenotypeMissense mutation

Sustainable Development Goals

SDG 0: Life below water

Related Papers (1)

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

N/A

1.6DataRank · unranked

Genetics in Medicine(2015)

co-cited

10.1038/gim.2015.30

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene

FAIR Checklist

DataRank Breakdown

Authors (7)

Impact

Open Access

Topics

Annotations (Europe PMC)

Related Papers (1)