Results 21 to 30 of about 13,128 (181)

A review of the new HGNC gene family resource [PDF]

Human Genomics, 2016
The HUGO Gene Nomenclature Committee (HGNC) approves unique gene symbols and names for human loci. As well as naming genomic loci, we manually curate genes into family sets based on shared characteristics such as function, homology or phenotype. Each HGNC gene family has its own dedicated gene family report on our website, www.genenames.org .
Kristian Gray, Ruth L. Seal, Susan Tweedie, Matt W. Wright, Elspeth A. Bruford   +4 more
openalex   +3 more sources

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 Gray, Ruth L. Seal, Susan Tweedie, Elspeth A. Bruford   +5 more
openalex   +3 more sources

Bernard‐Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient [PDF]

Molecular Genetics & Genomic Medicine
Background Bernard‐Soulier syndrome (BSS) is a rare bleeding disorder caused by defects in the GPIb‐IX‐V complex, which is essential for platelet adhesion.
Mohamed Lemine Salem, Ektelbenina Zein, Ghaber Sidi Mohamed   +2 more
doaj   +2 more sources

The official unified nomenclature adopted by the HGNC calls for the use of the acronyms, CCN1–6, and discontinuation in the use of CYR61, CTGF, NOV and WISP 1–3 respectively [PDF]

Journal of Cell Communication and Signaling, 2018
An examination of the confusion generated around the use of different acronyms for CCN proteins has been performed by the editors of the HUGO Gene Nomenclature Committee upon the request of the International CCN Society Scientific Committee. After careful consideration of the various arguments, and after polling the community of researchers who have ...
Bernard Perbal, Susan Tweedie, Elspeth A. Bruford   +2 more
openalex   +3 more sources

The HGNC Database in 2008: a resource for the human genome [PDF]

Nucleic Acids Research, 2007
The HUGO Gene Nomenclature Committee (HGNC) aims to assign a unique and ideally meaningful name and symbol to every human gene. The HGNC database currently comprises over 24 000 public records containing approved human gene nomenclature and associated gene information.
Elspeth A. Bruford, Michael Lush, Matt W. Wright, Tam P. Sneddon, S. Povey, Ewan Birney   +5 more
openalex   +3 more sources

Genenames.org: the HGNC resources in 2013 [PDF]

Nucleic Acids Research, 2012
The HUGO Gene Nomenclature Committee situated at the European Bioinformatics Institute assigns unique symbols and names to human genes. Since 2011, the data within our database has expanded largely owing to an increase in naming pseudogenes and non-coding RNA genes, and we now have >33,500 approved symbols.
Kristian Gray, Louise C. Daugherty, Susan M. Gordon, Ruth L. Seal, Matt W. Wright, Elspeth A. Bruford   +5 more
openalex   +3 more sources

HGNC: promoting standardized gene names for 40 years

, 2019
The HUGO Gene Nomenclature Committee (HGNC, www.genenames.org), working closely with authors, journals, annotating groups and other nomenclature committees, has been responsible for assigning approved human gene names for the last 40 years. While unique IDs are undoubtedly the most unambiguous way to identify genes, they are not practical for many ...
Susan Tweedie, Ruth L. Seal, Bryony Braschi, Paul Denny, Kristian Gray, Tamsin E. M. Jones, B. D. Yates, Elspeth A. Bruford   +7 more
openalex   +2 more sources

Genenames.org: the HGNC and VGNC resources in 2019 [PDF]

Nucleic Acids Research, 2018
The HUGO Gene Nomenclature Committee (HGNC) based at EMBL's European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. There are over 40 000 approved gene symbols in our current database of which over 19 000 are for protein-coding genes.
Bryony Braschi, Paul Denny, Kristian Gray, Tamsin E. M. Jones, Ruth L. Seal, Susan Tweedie, Bethan Yates, Elspeth A. Bruford   +7 more
openalex   +3 more sources

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX [PDF]

Genetics in Medicine Open
Purpose: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing.
Apoorva K. Iyengar, Xue Zou, Jian Dai, Rhodricia A. Francis, Alexias Safi, Karynne Patterson, Rebecca L. Koch, Shannon Clarke, M. Makenzie Beaman, Shruthi Mohan, Jessica X. Chong, Michael J. Bamshad, William H. Majoros, R. Catherine Rehder, Deeksha S. Bali, Andrew S. Allen, Gregory E. Crawford, Priya S. Kishnani, Timothy E. Reddy   +18 more
doaj   +2 more sources

Correction to: The official unified nomenclature adopted by the HGNC calls for the use of the acronyms, CCN1–6, and discontinuation in the use of CYR61, CTGF, NOV and WISP 1–3 respectively [PDF]

Journal of Cell Communication and Signaling, 2019
The original version of this article unfortunately contained a mistake. In the Abstract section, a production query number (Q2) was inadvertently inserted within the new official gene names of the CCN proteins.
Bernard Perbal, Susan Tweedie, Elspeth A. Bruford   +2 more
openalex   +2 more sources