Results 11 to 20 of about 375 (74)

Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy

Journal of Cellular and Molecular Medicine, Volume 25, Issue 22, Page 10736-10746, November 2021., 2021
Abstract The present study aimed to explore the potential hub genes and pathways of ischaemic cardiomyopathy (ICM) and to investigate the possible associated mechanisms. Two microarray data sets (GSE5406 and GSE57338) were downloaded from the Gene Expression Omnibus (GEO) database.
Jian‐Hong Chen, Lei‐Li Wang, Lin Tao, Bin Qi, Yong Wang, Yu‐Jie Guo, Liu Miao   +6 more
wiley   +1 more source

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Clinical Genetics, Volume 97, Issue 4, Page 556-566, April 2020., 2020
Abstract NGLY1 encodes the enzyme N‐glycanase that is involved in the degradation of glycoproteins as part of the endoplasmatic reticulum‐associated degradation pathway. Variants in this gene have been described to cause a multisystem disease characterized by neuromotor impairment, neuropathy, intellectual disability, and dysmorphic features.
Daan M. Panneman, Saskia B. Wortmann, Charlotte A. Haaxma, Peter M. van Hasselt, Nicole I. Wolf, Yvonne Hendriks, Benno Küsters, Sjenet van Emst‐de Vries, Els van de Westerlo, Werner J.H. Koopman, Liesbeth Wintjes, Frans van den Brandt, Maaike de Vries, Dirk J. Lefeber, Jan A.M. Smeitink, Richard J. Rodenburg   +15 more
wiley   +1 more source

Comprehensive Pan‐Cancer Analysis of TRNT1 as a Potential Biomarker for Breast Cancer

Journal of Cellular and Molecular Medicine, Volume 29, Issue 18, September 2025.
ABSTRACT TRNT1, an RNA nucleotide transferase, plays a critical role in cellular processes and may be involved in cancer. However, its role in cancer has not been fully explored. This study aims to explore the potential significance of TRNT1 in cancer, particularly in breast cancer (BC) progression and prognosis.
Xinwei Li, Yue Meng, Bing Gu
wiley   +1 more source

Antigen presentation of post‐translationally modified peptides in major histocompatibility complexes

Immunology &Cell Biology, Volume 103, Issue 2, Page 161-177, February 2025.
T cells recognize pathogens and malignantly transformed cells through antigen presentation on major histocompatibility complex molecules. Post‐translational modifications (PTMs) of proteins can alter the peptides presented, influencing immune recognition and disease.
Alexine S de Wit, Frans Bianchi, Geert van den Bogaart   +2 more
wiley   +1 more source

Genetic counseling for congenital disorders of glycosylation (CDG)

Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.
Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel, Lynne Wolfe, Ellen F. Macnamara   +2 more
wiley   +1 more source

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts

PROTEOMICS, Volume 24, Issue 15, August 2024.
Abstract Asparagine‐linked glycosylation 1 protein is a β‐1,4‐mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the first step of mannosylation in N‐glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder termed as ALG1‐CDG.
Rohit Budhraja, Neha Joshi, Silvia Radenkovic, Tamas Kozicz, Eva Morava, Akhilesh Pandey   +5 more
wiley   +1 more source

Insight into the mechanism of CD34+ cell mobilisation impairment in multiple myeloma patients treated with anti‐CD38 therapy

British Journal of Haematology, Volume 204, Issue 4, Page 1439-1449, April 2024.
Modern anti‐CD38 monoclonal antibodies daratumumab and isatuximab have been associated with impairment of CD34+ cell mobilisation but the mechanism was not elucidated so far. In this study, we investigated the effect of three different regimens (dara‐VCd, isa‐KRd and VTd) on CD34+ cells and the findings suggest that upregulated adhesion‐related ...
Ondrej Venglar, Veronika Kapustova, Anjana Anilkumar Sithara, David Zihala, Ludmila Muronova, Tereza Sevcikova, Jan Vrana, Alexander Vdovin, Jakub Radocha, Petra Krhovska, Matous Hrdinka, Michal Turjap, Tereza Popkova, Zuzana Chyra, Lucie Broskevicova, Michal Simicek, Zdenek Koristek, Roman Hajek, Tomas Jelinek   +18 more
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

NGLY1 deficiency: a prospective natural history study. [PDF]

Hum Mol Genet, 2023
Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ.   +10 more
europepmc   +1 more source

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry. [PDF]

Orphanet J Rare Dis, 2022
Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, Kobayashi ES, Tong S, Bainbridge MN.   +8 more
europepmc   +1 more source