Results 71 to 80 of about 145 (101)

Naming the alpha-2-macroglobulin gene family across vertebrates

Human Genomics
The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and names to human genes and its sister project, the Vertebrate Gene Nomenclature Committee (VGNC), names genes across selected vertebrates (chimp, macaque, horse, cattle, pig, dog, cat ...
Bryony Braschi, Ruth L. Seal, Elspeth A. Bruford   +2 more
doaj   +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

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  

Long non-coding RNAs in humans: Classification, genomic organization and function

Non-coding RNA Research
Long non-coding RNAs (lncRNAs) regulate numerous biological functions in animals. Despite recent advances in lncRNA research, their structural and functional annotation and classification remain an ongoing challenge.
Barbara Chodurska, Tanja Kunej
doaj   +1 more source

IMGT/mAb-KG: the knowledge graph for therapeutic monoclonal antibodies

Frontiers in Immunology
IntroductionTherapeutic monoclonal antibodies (mAbs) have demonstrated promising outcomes in diverse clinical indications, including but not limited to graft rejection, cancer, and autoimmune diseases lately.Recognizing the crucial need for the ...
Gaoussou Sanou, Gaoussou Sanou, Taciana Manso, Konstantin Todorov, Véronique Giudicelli, Patrice Duroux, Sofia Kossida   +6 more
doaj   +1 more source

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX

Genetics in Medicine Open
Purpose: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing.
Apoorva K. Iyengar, Xue Zou, Jian Dai, Rhodricia A. Francis, Alexias Safi, Karynne Patterson, Rebecca L. Koch, Shannon Clarke, M. Makenzie Beaman, Shruthi Mohan, Jessica X. Chong, Michael J. Bamshad, William H. Majoros, R. Catherine Rehder, Deeksha S. Bali, Andrew S. Allen, Gregory E. Crawford, Priya S. Kishnani, Timothy E. Reddy   +18 more
doaj   +1 more source

Databases as Ontologies Part 2 - A Case Study with HGNC

This is the second of a two-part post about encoding databases as ontologies. In the first part, I gave a background on how I started working on this problem and the software stack I developed along the way. In this post, I explain the philosophy and design about how I encoded the HGNC (HUGO Gene Nomenclature Committee) database as an ontology using ...
openaire   +1 more source

Bernard‐Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient

Molecular Genetics & Genomic Medicine
Background Bernard‐Soulier syndrome (BSS) is a rare bleeding disorder caused by defects in the GPIb‐IX‐V complex, which is essential for platelet adhesion.
Mohamed Lemine Salem, Ektelbenina Zein, Ghaber Sidi Mohamed   +2 more
doaj   +1 more source