Results 11 to 20 of about 145 (101)

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

Genenames.org: the HGNC and VGNC resources in 2017 [PDF]

Nucleic Acids Research, 2016
The HUGO Gene Nomenclature Committee (HGNC) based at the European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. Currently the HGNC database contains almost 40 000 approved gene symbols, over 19 000 of which represent protein-coding genes. In addition to naming genomic loci we manually curate genes into family sets
Bethan Yates, Bryony Braschi, Kristian A. Gray, Ruth L. Seal, Susan Tweedie, Elspeth A. Bruford   +5 more
openaire   +2 more sources

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

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

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

Naming 'junk': Human non-protein coding RNA (ncRNA) gene nomenclature

Human Genomics, 2011
Previously, the majority of the human genome was thought to be 'junk' DNA with no functional purpose. Over the past decade, the field of RNA research has rapidly expanded, with a concomitant increase in the number of non-protein coding RNA (ncRNA) genes ...
Wright Mathew W, Bruford Elspeth A
doaj   +1 more source

Análisis de la producción central y la entrega de hidrógeno, aplicado al Circuito Patagónico Austral

Informes Científicos y Técnicos (Universidad Nacional de la Patagonia Austral), 2016
El departamento Deseado de la Provincia de Santa Cruz, Argentina, presenta la mayor potencialidad de producción de hidrógeno electrolítico del país, a partir de las tres fuentes de energías primarias sustentables: eólica, solar, biomásica.
Maximiliano Fernando Medina, Abdelbassat Abdelbaki, Patricia Villarroel Sáez, Agustin Sigal, Carlos Ramiro Rodriguez, Eduardo Mac Donald   +5 more
doaj   +1 more source

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, 2022
Some spontaneous germline gain-of-function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the frequency and spatial distribution of de novo mutations we divided three testes into 192 pieces each and ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
openaire   +2 more sources

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

Molecular Genetics and Metabolism Reports, 2021
Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere, Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina   +14 more
doaj   +1 more source