Results 111 to 120 of about 13,098 (176)

Proteome Based Construction of the Lymphocyte Function-Associated Antigen 1 (LFA-1) Interactome in Human Dendritic Cells. [PDF]

, 2016
The β2-integrin lymphocyte function-associated antigen 1 (LFA-1) plays an important role in the migration, adhesion and intercellular communication of dendritic cells (DCs).
A Cambi, A Franceschini, A Zarbock, A Zarbock, Alessandra Cambi, B Schwanhausser, C Eich, C Laudanna, C Saravanan, Carl G. Figdor, Christina Eich, E Arana, Edwin Lasonder, EJ Ezratty, EY Choi, F Attanasio, F Ye, Fabrizio Mattei, G Bernardini, G Fengos, G Jacquemet, GD Keizer, HY Kueh, Inge Reinieren-Beeren, J Cox, J Cox, J Han, J Rappsilber, JC Kuo, JD Humphries, K Katagiri, K Krauss, K Peter, KJ Borgman, LA Johnson, Luis J. Cruz, M Moser, M Shimaoka, MH Ginsberg, ML Dustin, MM Abdel-Latif, N Hogg, N Tsukamoto, P Cervero, P Gonzalo, P Lajoie, P Mina-Osorio, R Alon, R Lakshminarayan, R Lasserre, R Sampath, R Zaidel-Bar, S Bolte, S Miyamoto, S Ono, SI Buschow, SM Pontier, Sonja I. Buschow, T Geiger, T Lammermann, TS van Zanten, Y Zhang   +61 more
core   +9 more sources

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Genetics in Medicine Open
Purpose: Variants of uncertain significance (VUS) are considered one of the most significant impediments to the translation of genetic test results into precise clinical recommendations.
Anna Benet-Pagès, Andreas Laner, Luis R. Nassar, Tobias Wohlfrom, Verena Steinke-Lange, Maximilian Haeussler, Elke Holinski-Feder   +6 more
doaj   +1 more source

RNAcentral : a hub of information for non-coding RNA sequences [PDF]

, 2019
RNAcentral is a comprehensive database of non-coding RNA (ncRNA) sequences, collating information on ncRNA sequences of all types from a broad range of organisms.
Basu, Siddhartha, Bateman, Alex, Berardini, Tanya Z, Billis, Kostantinos, Blake, Judith A, Boccaletto, Pietro, Bruford, Elspeth, Bujnicki, Janusz M, Bult, Carol J, Burkov, Boris, Cannone, Jamie J, Chan, Patricia P, Chen, Runsheng, Cherry, J Michael, Cochrane, Guy, Cole, James, Davis, Paul, Dinger, Marcel, Emmert, David, Engel, Stacia R, Fey, Petra, Finn, Robert D, Frankish, Adam, Gillespie, Marc E, Gorodkin, Jan, Griffiths-Jones, Sam, Gutell, Robin R, Hatzigeorgiou, Artemis, He, Shunmin, Howe, Kevin, Huntley, Rachael P, Kalvari, Ioanna, Karagkouni, Dimitra, Karlowski, Wojciech M, Kay, Simon, Kenmochi, Naoya, Laulederkind, Stanley J F, Lovering, Ruth C, Lowe, Todd M, Ma, Lina, Marygold, Steven J, Nawrocki, Eric, Orlic-Milacic, Marija, Paraskevopoulou, Maria, Petrov, Anton I, Rivas, Elena, Rutherford, Kim, Seal, Ruth, Seemann, Stefan E, Shimoyama, Mary, Stadler, Peter F, Sweeney, Blake A, Szymanski, Maciej, Team, SILVA, Vandesompele, Jo, Volders, Pieter-Jan, Williams, Kelly P, Wood, Valerie, Yoshihama, Maki, Zhang, Zhang, Zhao, Yi   +60 more
core   +1 more source

Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature [PDF]

Leukemia, 2021
Alex H. Wagner, Yassmine Akkari, Marilyn Li, Angshumoy Roy, Karen Tsuchiya, Gordana Raca   +5 more
openaire   +1 more source

Impact of an Alu insertion on the cellular localisation of tissue factor protein

Scientific Reports
Tissue Factor (Hugo Gene Nomenclature Consortium HGNC gene Factor III (F3)) plays vital roles in many cellular processes including haemostasis, thrombosis, inflammation and angiogenesis.
Courtney Chatterton-Bartley, Jun Cao, Joseph Boyle, Dorian Haskard   +3 more
doaj   +1 more source

Standardized nomenclature and open science in Human Genomics

Human Genomics, 2021
Vasilis Vasiliou, Kirill Veselkov, Elspeth Bruford, Juergen K. V. Reichardt   +3 more
doaj   +1 more source

A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts

Genetics in Medicine Open
Purpose: Population-scale, exome-sequenced cohorts with linked electronic health records (EHR) permit genome-first exploration of phenotype. Phenotype and cancer risk are well characterized in children with a pathogenic DICER1 (HGNC ID:17098) variant ...
Jung Kim, Jeremy Haley, Jessica N. Hatton, Uyenlinh L. Mirshahi, H. Shanker Rao, Mark F. Ramos, Diane Smelser, Gretchen M. Urban, Kris Ann P. Schultz, David J. Carey, Douglas R. Stewart   +10 more
doaj   +1 more source

MINTbase v2.0: a comprehensive database for tRNA-derived fragments that includes nuclear and mitochondrial fragments from all The Cancer Genome Atlas projects. [PDF]

, 2018
MINTbase is a repository that comprises nuclear and mitochondrial tRNA-derived fragments (\u27tRFs\u27) found in multiple human tissues. The original version of MINTbase comprised tRFs obtained from 768 transcriptomic datasets.
Kirino, Yohei, Loher, Phillipe, Londin, Eric R., Magee, Rogan, Pliatsika, Venetia, Rigoutsos, Isidore, Shigematsu, Megumi, Telonis, Aristeidis G.   +7 more
core   +1 more source

Protein Ontology: A controlled structured network of protein entities [PDF]

, 2013
The Protein Ontology (PRO; http://proconsortium.org) formally defines protein entities and explicitly represents their major forms and interrelations. Protein entities represented in PRO corresponding to single amino acid chains are categorized by level ...
Arighi Cecilia, N., Blake Judith, A., Bult Carol, J., Christie Karen, R., Diehl Alexander, D., Drabkin Harold, J., Julie, Cowart, Natale Darren, A., Olivia, Helfer, Others, Peter, D’Eustachio, Smith, Barry   +11 more
core  

Encefalopatía neonatal. Algo más que asfixia al nacer

Revista de la Facultad de Medicina, 2007
La hiperglicinemia no cetósica (HGNC) es un error innato del metabolismo, de carácter recesivo, debido a un defecto en el sistema de clivaje, que ocasiona acumulación de glicina en la sangre y en el sistema nervioso central, donde activa dos receptores ...
Yolanda Cifuentes C., Martha Bermúdez, Clara Arteaga   +2 more
doaj