Results 51 to 60 of about 13,128 (181)

Why digital medicine depends on interoperability [PDF]

, 2019
Digital data are anticipated to transform medicine. However, most of today's medical data lack interoperability: hidden in isolated databases, incompatible systems and proprietary software, the data are difficult to exchange, analyze, and interpret. This
Essenwanger, Andrea, Lehne, Moritz, Sass, Julian, Schepers, Josef, Thun, Sylvia   +4 more
core   +1 more source

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

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

The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations

Cells, 2022
The European Fragile X Network met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word “retardation” in regard to the naming of the fragile X gene (FRAXA) and protein (FMRP).
Jonathan Herring, Kirsten Johnson, Jörg Richstein   +2 more
doaj   +1 more source

β-Lactoglobulin and Glycodelin: Two Sides of the Same Coin?

Frontiers in Physiology, 2021
The two lipocalins, β-lactoglobulin (βLg) and glycodelin (Gd), are possibly the most closely related members of the large and widely distributed lipocalin family, yet their functions appear to be substantially different.
Lindsay Sawyer
doaj   +1 more source

A curated collection of human vaccination response signatures

Scientific Data, 2022
Recent advances in high-throughput experiments and systems biology approaches have resulted in hundreds of publications identifying “immune signatures”. Unfortunately, these are often described within text, figures, or tables in a format not amenable to ...
Kenneth C. Smith, Daniel G. Chawla, Bhavjinder K. Dhillon, Zhou Ji, Randi Vita, Eva C. van der Leest, Jing Yi Jessica Weng, Ernest Tang, Amani Abid, The Human Immunology Project Consortium (HIPC), Bjoern Peters, Robert E. W. Hancock, Aris Floratos, Steven H. Kleinstein   +13 more
doaj   +1 more source

IUPHAR-DB: An Expert-Curated, Peer-Reviewed Database of Receptors and Ion Channels [PDF]

, 2009
The International Union of Basic and Clinical Pharmacology database (IUPHAR-DB) integrates peer-reviewed pharmacological, chemical, genetic, functional and anatomical information on the 354 non-sensory G protein-coupled receptors (GPCRs), 71 ligand-gated
Anthony J. Harmar, Edward M. Rosser, Joanna L. Sharman, Martin Jones, NC - IUPHAR, Rebecca Hills, Stuart D. Greenhill, Valerie A. Hale   +7 more
core   +2 more sources

Highlights of the 'Gene Nomenclature Across Species' Meeting

Human Genomics, 2010
The first 'Gene Nomenclature Across Species' meeting was held on 12th and 13th October 2009, at the Møller Centre in Cambridge, UK. This meeting, organised and hosted by the HUGO Gene Nomenclature Committee (HGNC), brought together invited experts from ...
Bruford Elspeth A
doaj   +1 more source

Assessing the readiness of precision medicine interoperabilty: An exploratory study of the National Institutes of Health genetic testing registry

Journal of Innovation in Health Informatics, 2017
Background:  Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.
Jay G Ronquillo, Chunhua Weng, William T Lester   +2 more
doaj   +1 more source

A standardized nomenclature for mammalian histone genes

Epigenetics & Chromatin, 2022
Histones have a long history of research in a wide range of species, leaving a legacy of complex nomenclature in the literature. Community-led discussions at the EMBO Workshop on Histone Variants in 2011 resulted in agreement amongst experts on a revised
Ruth L. Seal, Paul Denny, Elspeth A. Bruford, Anna K. Gribkova, David Landsman, William F. Marzluff, Monica McAndrews, Anna R. Panchenko, Alexey K. Shaytan, Paul B. Talbert   +9 more
doaj   +1 more source