Results 31 to 40 of about 13,098 (176)

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.
Bruford, Elspeth A., Lush, Michael J., Wright, Mathew W., Sneddon, Tam P., Povey, Sue, Birney, Ewan   +5 more
openaire   +2 more sources

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

Changing the name of the NBPF/DUF1220 domain to the Olduvai domain [PDF]

, 2017
We are jointly proposing a new name for a protein domain of approximately 65 amino acids that has been previously termed NBPF or DUF1220. Our two labs independently reported the initial studies of this domain, which is encoded almost entirely within a ...
Sikela, James M, Van Roy, Frans
core   +2 more sources

The Relationship between the UniProt Knowledgebase (UniProtKB) and the IntAct Molecular Interaction Databases [PDF]

, 2009
IntAct provides a freely available, open source database system and analysis tools for protein interaction data. All interactions are derived from literature curation or direct user submission and all experimental information relating to binary protein ...
A Burn, D Carr, E Wenger, Elizabeth H. Bassett, K Salen, M Csíkszentmihályi, M Oliver, N Ducheneaut, O Zuber-Skerrit, T L Taylor   +9 more
core   +3 more sources

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

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

Molecular Signaling and Dysfunction of the Human Reactive Enteric Glial Cell Phenotype: Implications for GI Infection, IBD, POI, Neurological, Motility, and GI Disorders [PDF]

, 2016
BACKGROUND: Clinical observations or animal studies implicate enteric glial cells in motility disorders, irritable bowel syndrome, inflammatory bowel disease, gastrointestinal (GI) infections, postoperative ileus, and slow transit constipation ...
Abdel Rasoul, Mahmoud, Arsenescu, Razvan, Christofi, Fievos L., CUOMO, ROSARIO, Fadda, Paolo, Grants, Iveta, Harzman, Alan, Liñán Rico, Andromeda, Needleman, Bradley J, Ochoa Cortes, Fernando, TURCO, FABIO, Whitaker, Emmett   +11 more
core   +1 more source

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

SomInaClust: detection of cancer genes based on somatic mutation patterns of inactivation and clustering [PDF]

, 2015
Background: With the advances in high throughput technologies, increasing amounts of cancer somatic mutation data are being generated and made available.
Fierro Gutierrez, Ana Carolina Elisa, Marchal, Kathleen, Van den Eynden, Jimmy, Verbeke, Lieven   +3 more
core   +2 more sources

Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders

Human Genomics, 2022
Intermediate filament (IntFil) genes arose during early metazoan evolution, to provide mechanical support for plasma membranes contacting/interacting with other cells and the extracellular matrix. Keratin genes comprise the largest subset of IntFil genes.
Minh Ho, Brian Thompson, Jeffrey Nicholas Fisk, Daniel W. Nebert, Elspeth A. Bruford, Vasilis Vasiliou, Christopher G. Bunick   +6 more
doaj   +1 more source