Results 121 to 130 of about 13,128 (181)

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

Nonketotic Hyperglycinemia: A Report of Two Infants Treated with Dextromethorphan and Sodium Benzoate [PDF]

, 2000
A hiperglicinémia não cetótica é um erro inato da degradação da glicina, resultando na sua excessiva acumulação nos tecidos corporais, designadamente no sistema nervoso central.
Cabral, A, Cabral, P, Carvalho, A, Galha, H, Gonçalves, H, Pereira-da-Silva, L, Sequeira, S, Serrano, A, Videira-Amaral, J   +8 more
core  

HGNChelper: Identify and Correct Invalid HGNC Human Gene Symbols and MGI Mouse Gene Symbols [PDF]

, 2012
Sehyun Oh, Ayush Aggarwal, Markus Riester, Levi Waldron   +3 more
openalex   +1 more source

Uniformly curated signaling pathways reveal tissue-specific cross-talks and support drug target discovery

, 2010
Motivation: Signaling pathways control a large variety of cellular processes. However, currently, even within the same database signaling pathways are often curated at different levels of detail.
Amberger, Bader, Bader, Bauer-Mehren, Becker, Behar, Berger, Berglund, Beyer, Bhattacharyya, Borisov, Boyle, Chaudhuri, Chen, Csaba Böde, Cusick, Davidov, Dennis, Drysdale, Dávid Fazekas, Fabbro, Frame, Freeman, Friedland, Gao, Harris, Hoffmann, Hopkins, Hornberg, Hunter, Illés J. Farkas, Joshi-Tope, Kandasamy, Katalin Lenti, Kholodenko, Klein, Komarova, Korcsmaros, Levine, Li, Liu, Lu, Luo, Morioka, Máté S. Szalay, O'Brien, Ogata, Papin, Petra Rovó, Pires-daSilva, Péter Csermely, Rhodes, Rogers, Sakharkar, Sergina, Stelling, Szathmary, Tamás Korcsmáros, Taniguchi, Tibor Vellai, Tortora, Urban, Wang, Xia, Yildirim, Zoltán Spiró   +65 more
core   +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

Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta

International Dental Journal
: Objectives: FAM83H is a critical gene implicated in amelogenesis imperfecta type IIIA (AI type IIIA), but its precise role in enamel formation remains poorly understood.
Tina Leban, Tanja Kunej
doaj   +1 more source

Méthodes de mapping situées aux niveaux instance et schéma pour l'intégration de sources de données hétérogènes

, 2007
National audienceUn des obstacles principaux à l'intégration de sources de données est l'hétérogénéité des schémas des sources et en particulier la disparité des éléments de données (EDs) associés.
Mougin, Fleur, Chabalier, Julie, Bodenreider, Olivier, Burgun, Anita   +3 more
core