Results 21 to 30 of about 145 (101)

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, Bruford   +2 more
openaire   +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 Bruford   +2 more
openaire   +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

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

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

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs

Genetics in Medicine Open
Purpose: Genetic variation underlying rare diseases in Arab populations is poorly understood limiting effective carrier screening for recessive disorders, which are prevalent because of high consanguineous rates.
Ruchi Jain, Sami Bizzari, Sathishkumar Ramaswamy, Khaleem F. Hasham, Shruti Sinha, Ikram Chekroun, Fatma Rabea, Eman Abuijlan, Maha El Naofal, Massomeh Sheikh Hassani, Shruti Shenbagam, Alan Taylor, Mohammed Uddin, Mohamed Almarri, Omer Alkhnbashi, Hamda Khansaheb, Hanan Al Suwaidi, Stefan S. Du Plessis, Stephany El-Hayek, Alawi Alsheikh-Ali, Ahmad Abou Tayoun   +20 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

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