Results 1 to 10 of about 123 (87)

The importance of being the HGNC

Human Genomics, 2022
The HUGO Gene Nomenclature Committee (HGNC) has been providing standardized symbols and names for human genes since the late 1970s. As funding agencies change their priorities, finding financial support for critical biomedical resources such as the HGNC ...
Tamsin E Jones, Bryony Braschi, Ruth L Seal   +2 more
exaly   +2 more sources

Gene family matters: expanding the HGNC resource

Human Genomics, 2012
The HUGO Gene Nomenclature Committee (HGNC) assigns approved gene symbols to human loci. There are currently over 33,000 approved gene symbols, the majority of which represent protein-coding genes, but we also name other locus types such as non-coding ...
Mathew W Wright, Ruth L Seal, Elspeth A Bruford   +2 more
exaly   +3 more sources

HGNChelper: identification and correction of invalid gene symbols for human and mouse [version 2; peer review: 3 approved]

F1000Research, 2022
Gene symbols are recognizable identifiers for gene names but are unstable and error-prone due to aliasing, manual entry, and unintentional conversion by spreadsheets to date format. Official gene symbol resources such as HUGO Gene Nomenclature Committee (
Marcel Ramos, Ragheed Al-Dulaimi, Ayush Aggarwal, Sean Davis, Levi Waldron, Sehyun Oh, Jasmine Abdelnabi, Markus Riester   +7 more
doaj   +1 more source

HIPERGLICINEMIA NONCETONICÅ [PDF]

Romanian Journal of Pediatrics, 2011
Hiperglicinemia noncetonică (HGNC) este o boală genetică a metabolismului glicinei, în care se acumulează cantităţi crescute de glicină în toate ţesuturile, inclusiv în creierul.
Ioan Oprea, Camelia Malancioiu, Adrian Martinescu, Ioana Grigore   +3 more
doaj   +1 more source

Caracterización clínica, bioquímica e imagenológica en una cohorte de pacientes diagnosticados con hiperglicinemia no cetósica clásica: estudio ambispectivo 2000-2014, Medellín, Colombia

Acta Neurológica Colombiana, 2023
Introducción: La hiperglicinemia no cetósica (HGNC) es un error innato del metabolismo del grupo de las aminoacidopatías, de carácter autosómico recesivo, causado por un defecto en el sistema de clivaje de la glicina.
Juliana Trujillo Gómez, Sandra Milena Tobón Carvajal , Blair Ortiz Giraldo, Sandra Catalina Mesa Restrepo, Gabriel Jaime Vélez Rengifo, José William Cornejo Ochoa   +5 more
doaj   +1 more source

Size distribution of function-based human gene sets and the split–merge model [PDF]

Royal Society Open Science, 2016
The sizes of paralogues—gene families produced by ancestral duplication—are known to follow a power-law distribution. We examine the size distribution of gene sets or gene families where genes are grouped by a similar function or share a common property.
Wentian Li, Oscar Fontanelli, Pedro Miramontes   +2 more
doaj   +1 more source

HGNChelper: identification and correction of invalid gene symbols for human and mouse [version 1; peer review: 2 approved, 1 approved with reservations]

F1000Research, 2020
Gene symbols are recognizable identifiers for gene names but are unstable and error-prone due to aliasing, manual entry, and unintentional conversion by spreadsheets to date format. Official gene symbol resources such as HUGO Gene Nomenclature Committee (
Sehyun Oh, Jasmine Abdelnabi, Ragheed Al-Dulaimi, Ayush Aggarwal, Marcel Ramos, Sean Davis, Markus Riester, Levi Waldron   +7 more
doaj   +1 more source

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

Cells, 2022
This commentary is written in response to the recent article from Herring et al., discussing the eradication of the offensive term “retardation” from gene nomenclature.
Elspeth Bruford, on behalf of the HUGO Gene Nomenclature Committee (HGNC)   +1 more
doaj   +1 more source

Polymorphisms in NQO1 and MPO genes and risk for bladder cancer in Tunisian population

Molecular Genetics & Genomic Medicine, 2021
Background NAD (P) H: quinone oxidoreductase (1) (NQO1‐HGNC: 2874) and myeloperoxidase (MPO‐HGNC: 7218) are two enzymes involved in phase II of the xenobiotic metabolism pathway. Methods In this study, a case–control analysis was conducted to investigate
Imen Hemissi, Haroun Ayed, Zeineb Naimi, Khedija Meddeb, Mouna Ayadi, Skander Zouari, Selim Zaghbib, Emna Talbi, Mohamed Chebil, Slah Ouerhani   +9 more
doaj   +1 more source

Gene Updater: a web tool that autocorrects and updates for Excel misidentified gene names

Scientific Reports, 2022
Opening and processing gene expression data files in Excel runs into the inadvertent risk of converting gene names to dates. As pathway analysis tools rely on gene symbols to query against pathway databases, the genes that are converted to dates will not
Clara W. T. Koh, Justin S. G. Ooi, Gabrielle L. C. Joly, Kuan Rong Chan   +3 more
doaj   +1 more source