Results 71 to 80 of about 596 (125)

Role of S5b/PSMD5 in Proteasome Inhibition Caused by TNF-α/NFκB in Higher Eukaryotes

Cell Reports, 2012
The ubiquitin-proteasome system is essential for maintaining protein homeostasis. However, proteasome dysregulation in chronic diseases is poorly understood.
Sang Mi Shim, Won Jae Lee, Youngdoo Kim, Jong Wook Chang, Sungmin Song, Yong-Keun Jung   +5 more
doaj   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, Volume 41, Issue 9, Page 2512-2517, September 2026.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

gf-size-feb2016

, 2016
data for Fig.2: gf-size-feb2016.txt column 1: HGNC gene family ID or name column 2: number of genes in the (HGNC) gene family (possibly including pseudogenes) column 3: number of genes in the (HGNC) gene family (excluding pseudogenes) column 4 ...
Wentian Li (28857), Pedro Miramontes (373939), Miramontes, Pedro, Oscar Fontanelli (3133830), Li, Wentian, Fontanelli, Oscar   +5 more
core   +1 more source

HGNC gene_with_protein_product.xlsx

, 2017
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Christopher Southan (97432)
core   +1 more source

Additional file 3 of The VGNC: expanding standardized vertebrate gene nomenclature

, 2023
Additional file 3: Table S3.
Bethan Yates (15462831), Bryony Braschi (15462834), Elspeth A. Bruford (11916133), Ruth L. Seal (13890855), Susan Tweedie (403219), Tamsin E. M. Jones (15462828), Kristian Gray (14879450)   +6 more
core   +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

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

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

Additional file 4: of Navigating the dynamic landscape of long noncoding RNA and protein-coding gene annotations in GENCODE

, 2016
Figure S4. Common and unique annotated genes of absent in GENCODE V24 and HGNC. Venn diagram shows intersection between genes annotated by GENCODE and HGNC.
Shrey Gandhi (3455399), Saakshi Jalali (279671), Vinod Scaria (19350)   +2 more
core   +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