Results 31 to 40 of about 13,128 (181)

Databases as Ontologies Part 2 - A Case Study with HGNC

This is the second of a two-part post about encoding databases as ontologies. In the first part, I gave a background on how I started working on this problem and the software stack I developed along the way. In this post, I explain the philosophy and design about how I encoded the HGNC (HUGO Gene Nomenclature Committee) database as an ontology using ...
Charles Tapley Hoyt
  +4 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

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

Pathway analysis and transcriptomics improve protein identification by shotgun proteomics from samples comprising small number of cells - a benchmarking study [PDF]

, 2014
BACKGROUND: Proteomics research is enabled with the high-throughput technologies, but our ability to identify expressed proteome is limited in small samples. The coverage and consistency of proteome expression are critical problems in proteomics.
Brusic, Vladimir, Fenyo, David, Ivanov, Alexander R., Karger, Barry L., Li, Siyang, Lisacek, Frederique, Murthy, Shashi K., Sun, Jing, Zhang, Guang Lan   +8 more
core   +8 more sources

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

Selenoprotein gene nomenclature [PDF]

, 2016
The human genome contains 25 genes coding for selenocysteine-containing proteins (selenoproteins). These proteins are involved in a variety of functions, most notably redox homeostasis.
Arn\ue9r, Elias S., Berry, Marla J., Bruford, Elspeth A., Burk, Raymond F., Carlson, Bradley A., Castellano, Sergi, Chavatte, Laurent, Conrad, Marcus, Copeland, Paul R., Diamond, Alan M., Driscoll, Donna M., Ferreiro, Ana, Floh\ue9, Leopold, Gladyshev, Vadim N, Green, Fiona R., Guig\uf3, Roderic, Handy, Diane E., Hatfield, Dolph L., Hesketh, John, Hoffmann, Peter R., Holmgren, Arne, Hondal, Robert J., Howard, Michael T., Huang, Kaixun, K\uf6hrle, Josef, Kim, Hwa Young, Kim, Ick Young, Krol, Alain, Kryukov, Gregory V., Lee, Byeong Jae, Lee, Byung Cheon, Lei, Xin Gen, Lescure, Alain, Liu, Qiong, Lobanov, Alexei V., Loscalzo, Joseph, Maiorino, Matilde, Mariotti, Marco, Prabhu, K. Sandeep, Rayman, Margaret P., Regina, Brigelius Floh\ue9, Rozovsky, Sharon, Salinas, Gustavo, Schmidt, Edward E., Schomburg, Lutz, Schweizer, Ulrich, Simonovi\u107, Miljan, Sunde, Roger A., Tsuji, Petra A., Tweedie, Susan, Ursini, Fulvio, Whanger, Philip D., Zhang, Yan   +52 more
core   +3 more sources