Literature DB >> 34626580

The risks of using unapproved gene symbols.

Bryony Braschi1, Ruth L Seal2, Susan Tweedie1, Tamsin E M Jones1, Elspeth A Bruford3.   

Abstract

The use of approved nomenclature in publications is vital to enable effective scientific communication and is particularly crucial when discussing genes of clinical relevance. Here, we discuss several examples of cases where the failure of researchers to use a HUGO Gene Nomenclature Committee (HGNC)-approved symbol in publications has led to confusion between unrelated human genes in the literature. We also inform authors of the steps they can take to ensure that they use approved nomenclature in their manuscripts and discuss how referencing HGNC IDs can remove ambiguity when referring to genes that have previously been published with confusing alias symbols.
Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2021        PMID: 34626580      PMCID: PMC8546045          DOI: 10.1016/j.ajhg.2021.09.004

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  24 in total

1.  The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene.

Authors:  L Lin; J Faraco; R Li; H Kadotani; W Rogers; X Lin; X Qiu; P J de Jong; S Nishino; E Mignot
Journal:  Cell       Date:  1999-08-06       Impact factor: 41.582

Review 2.  Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.

Authors:  Hana M Zegallai; Grant M Hatch
Journal:  Mol Cell Biochem       Date:  2021-01-07       Impact factor: 3.396

3.  Hypocretin (orexin) deficiency in human narcolepsy.

Authors:  S Nishino; B Ripley; S Overeem; G J Lammers; E Mignot
Journal:  Lancet       Date:  2000-01-01       Impact factor: 79.321

4.  Spliceosome-Associated Protein 130 Exacerbates Alcohol-Induced Liver Injury by Inducing NLRP3 Inflammasome-Mediated IL-1β in Mice.

Authors:  Jong-Won Kim; Yoon-Seok Roh; Hyeneui Jeong; Ho-Keun Yi; Min-Ho Lee; Chae-Woong Lim; Bumseok Kim
Journal:  Am J Pathol       Date:  2018-01-31       Impact factor: 4.307

5.  Monoclonal antibodies against recombinant parts of the Ki-67 antigen (MIB 1 and MIB 3) detect proliferating cells in microwave-processed formalin-fixed paraffin sections.

Authors:  G Cattoretti; M H Becker; G Key; M Duchrow; C Schlüter; J Galle; J Gerdes
Journal:  J Pathol       Date:  1992-12       Impact factor: 7.996

6.  Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

Authors:  Julia Wang; Justine Rousseau; Emily Kim; Sophie Ehresmann; Yi-Ting Cheng; Lita Duraine; Zhongyuan Zuo; Ye-Jin Park; David Li-Kroeger; Weimin Bi; Lee-Jun Wong; Jill Rosenfeld; Joseph Gleeson; Eissa Faqeih; Fowzan S Alkuraya; Klaas J Wierenga; Jiani Chen; Alexandra Afenjar; Caroline Nava; Diane Doummar; Boris Keren; Jane Juusola; Markus Grompe; Hugo J Bellen; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2019-11-27       Impact factor: 11.025

7.  Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations.

Authors:  Mattéa J Finelli; Kevin X Liu; Yixing Wu; Peter L Oliver; Kay E Davies
Journal:  Hum Mol Genet       Date:  2015-03-19       Impact factor: 6.150

8.  Regulation of Cullin-RING ubiquitin ligase 1 by Spliceosome-associated protein 130 (SAP130).

Authors:  Lucia Cordero-Espinoza; Thilo Hagen
Journal:  Biol Open       Date:  2013-06-26       Impact factor: 2.422

9.  Kinetic properties of "dual" orexin receptor antagonists at OX1R and OX2R orexin receptors.

Authors:  Gabrielle E Callander; Morenike Olorunda; Dominique Monna; Edi Schuepbach; Daniel Langenegger; Claudia Betschart; Samuel Hintermann; Dirk Behnke; Simona Cotesta; Markus Fendt; Grit Laue; Silvio Ofner; Emmanuelle Briard; Christine E Gee; Laura H Jacobson; Daniel Hoyer
Journal:  Front Neurosci       Date:  2013-12-03       Impact factor: 4.677

Review 10.  Barth syndrome cardiomyopathy: targeting the mitochondria with elamipretide.

Authors:  Hani N Sabbah
Journal:  Heart Fail Rev       Date:  2020-10-01       Impact factor: 4.214

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  2 in total

1.  An Integrated Bioinformatics Analysis towards the Identification of Diagnostic, Prognostic, and Predictive Key Biomarkers for Urinary Bladder Cancer.

Authors:  Michail Sarafidis; George I Lambrou; Vassilis Zoumpourlis; Dimitrios Koutsouris
Journal:  Cancers (Basel)       Date:  2022-07-10       Impact factor: 6.575

2.  Comment on Herring et al. The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations. Cells 2022, 11, 1044.

Authors:  Elspeth Bruford
Journal:  Cells       Date:  2022-06-16       Impact factor: 7.666

  2 in total

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