Results 21 to 30 of about 596 (125)

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

bio2bel/hgnc v0.0.4

, 2018
Hugo Gene Nomenclature Consortium (HGNC) to ...
Charles Tapley Hoyt, Daniel Domingo-Fernandez   +1 more
core   +1 more source

bio2bel/hgnc v0.1.2-4realz

, 2018
Hugo Gene Nomenclature Consortium (HGNC) to ...
Daniel Domingo-Fernández, Charles Tapley Hoyt   +1 more
core   +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

From memorization to generalization: fine-tuning large language models for biomedical term-to-identifier normalization

Frontiers in Digital Health
IntroductionBiomedical data integration requires term-to-identifier normalization, the process of linking natural-language biomedical terms to standardized ontology codes so that extracted concepts become computable and interoperable.
Suswitha Pericharla, Daniel B. Hier, Tayo Obafemi-Ajayi   +2 more
doaj   +1 more source

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

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source

genenames.org: the HGNC resources in 2011

, 2010
The HUGO Gene Nomenclature Committee (HGNC) aims to assign a unique gene symbol and name to every human gene. The HGNC database currently contains almost 30 000 approved gene symbols, over 19 000 of which represent protein-coding genes.
M. J. Lush, Mathew W. Wright, Elspeth A. Bruford, Michael J. Lush, S. M. Gordon, E. A. Bruford, Ruth L. Seal, Susan M. Gordon, R. L. Seal, M. W. Wright   +9 more
core   +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

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source