Results 61 to 70 of about 145 (101)

HGNC: promoting standardized gene names for 40 years

, 2019
The HUGO Gene Nomenclature Committee (HGNC, www.genenames.org), working closely with authors, journals, annotating groups and other nomenclature committees, has been responsible for assigning approved human gene names for the last 40 years. While unique IDs are undoubtedly the most unambiguous way to identify genes, they are not practical for many ...
Tweedie, Susan, Seal, Ruth, Braschi, Bryony, Denny, Paul, Gray, Kristian, Jones, Tamsin, Yates, Beth, Bruford, Elspeth   +7 more
openaire   +1 more source

Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster

Frontiers in Physiology, 2019
Cytochrome c oxidase (COX) deficiency is the biochemical hallmark of several mitochondrial disorders, including subjects affected by mutations in apoptogenic-1 (APOPT1), recently renamed as COA8 (HGNC:20492).
Michele Brischigliaro, Samantha Corrà, Claudia Tregnago, Erika Fernandez-Vizarra, Massimo Zeviani, Massimo Zeviani, Rodolfo Costa, Cristiano De Pittà   +7 more
doaj   +1 more source

Microglia Mitochondria Support Neuronal Maturation via Metabolic and Transcriptional Reprogramming in Human 3D In Vitro Brain Model

Advanced Science, Volume 13, Issue 25, 4 May 2026.
xx xx. ABSTRACT Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by disrupted neuronal circuit maturation. Emerging evidence implicates microglial function and mitochondrial regulation as contributors to ASD‐associated biology, yet the mechanisms linking these processes to neuronal development remain poorly defined ...
Sydney P. Sterben, Charitha C. Anamala, Sahan B. S. Kansakar, Vaishnavi Koduri, Volha Liaudanskaya   +4 more
wiley   +1 more source

Fetal cardiac rhabdomyomas susceptible to prenatal treatment with mTOR inhibitors: literature review and proposal of a prenatal management algorithm

Frontiers in Medicine
Certain types of fetal cardiac rhabdomyomas can lead to severe complications, including intrauterine death, yet no specific criteria have been established for the prenatal use of pharmacological therapies to mitigate the impact of rhabdomyomas.
Alfonso Martinez-Garcia, Alfonso Martinez-Garcia, Omar A. Tirado-Aguilar, Sandra Acevedo-Gallegos, Juan M. Gallardo-Gaona, Berenice Velazquez-Torres, Jose A. Ramirez-Calvo, Dulce M. A. Camarena-Cabrera, Maria J. Rodriguez-Sibaja, Mario I. Lumbreras-Marquez, Mario I. Lumbreras-Marquez, Mario I. Lumbreras-Marquez, Yazmin Copado-Mendoza, Yazmin Copado-Mendoza   +13 more
doaj   +1 more source

Retracted: MiR‐191‐5p inhibits lung adenocarcinoma by repressing SATB1 to inhibit Wnt pathway

Molecular Genetics & Genomic Medicine, 2020
Background To investigate the function of miR‐191‐5p in lung adenocarcinoma and its possible mechanism. Methods QRT‐PCR was adopted for the detection of the expression levels of miR‐191‐5p and SATB1 (HGNC: 10541).
Lai‐yong Zhou, Fu‐wei Zhang, Jian Tong, Fang Liu   +3 more
doaj   +1 more source

Manual curation for improved genome annotation of the functionally extinct northern white rhinoceros (Ceratotherium simum cottoni).

PLoS ONE
The northern white rhinoceros (Ceratotherium simum cottoni) genome and annotation were previously published, but the annotation contained few genes, with many annotation misalignments, and nomenclature not matching HGNC/VGNC naming conventions, making ...
Elena Ruggeri, Julien Prunier, Marc-André Sirard, Barbara Durrant, Kristin Klohonatz   +4 more
doaj   +1 more source

Protein-coding genes in humans and model mammals (mouse, rat and pig): gene identifiers and disambiguation of gene nomenclature retrieved from the Ensembl genome browser

BMC Genomics
Background Gene nomenclature contains current official symbols and various numbers of synonyms, which pose a challenge to integrating genomic data and increase the probability that different genes share the same symbol.
Grzegorz R. Juszczak, Chandra S. Pareek, Urszula Czarnik, Mariusz Pierzchała   +3 more
doaj   +1 more source

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Genetics in Medicine Open
Purpose: Variants of uncertain significance (VUS) are considered one of the most significant impediments to the translation of genetic test results into precise clinical recommendations.
Anna Benet-Pagès, Andreas Laner, Luis R. Nassar, Tobias Wohlfrom, Verena Steinke-Lange, Maximilian Haeussler, Elke Holinski-Feder   +6 more
doaj   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathology

Histopathology, Volume 88, Issue 7, Page 1291-1294, June 2026.
Ian A Cree, Mark J Arends, Joseph D Khoury, Erika RE Denton, Anthony J Gill, Alexander J Lazar, Ian M Frayling, Stefan M Pfister, Mark A Rubin, Katia RM Leite, Raymond Dalgleish, Elspeth A Bruford, Sharon Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature [PDF]

Leukemia, 2021
Alex H. Wagner, Yassmine Akkari, Marilyn Li, Angshumoy Roy, Karen Tsuchiya, Gordana Raca   +5 more
openaire   +1 more source