Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1186/s40170-024-00356-0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Correction: STEAP4 inhibits cisplatin-induced chemotherapy resistance through suppressing PI3K/AKT in hepatocellular carcinoma.
Cancer Metab
March 2025
Department of Medical Oncology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510080, People's Republic of China.
Correction to: Dietary obesity and glycemic excursions cause a parallel increase in STEAP4 and pro-inflammatory gene expression in murine PBMCs.
Diabetol Int
April 2022
Department of Diabetes and Endocrine Medicine, Kagoshima University Graduate School of Medical and Dental Science, 8‑35‑1 Sakuragaoka, Kagoshima, 890‑8520 Japan.
[This corrects the article DOI: 10.1007/s13340-021-00542-1.].
View Article and Find Full Text PDFIdentification of Restless Legs Syndrome Genes by Mutational Load Analysis.
Ann Neurol
February 2020
Helmholtz Zentrum München GmbH, German Research Center for Environmental Health, Institute of Neurogenomics, Neuherberg, Germany.
Article Synopsis
- Restless legs syndrome (RLS) is a common neurological disorder affecting individual well-being and public health, with identified genetic risk loci but unclear causative genes.
- A study analyzed 84 candidate genes in nearly 9,600 participants using advanced sequencing methods, finding significant low-frequency and rare variant burdens associated with RLS.
- Fourteen genes were identified as potentially causative, with nine located near known RLS loci, while five were newly associated with the disorder, highlighting new avenues for further research and understanding.
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel mutations.
Mol Genet Metab Rep
March 2015
Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Mutations in , encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) and Ehlers-Danlos-like syndrome. Here, we report on two sisters compound heterozygous for two novel mutations that presented with severe short stature and progressive kyphoscoliosis, joint hypermobility and laxity, hyperextensible skin, platyspondyly, short ilia, and elbow malalignment. Microarray-based transcriptome analysis revealed the differential expression of several genes encoding extracellular matrix (ECM) structural components, including , , , and , enzymes involved in GAG synthesis and in ECM remodeling, such as , , , and , signaling transduction molecules of the TGFβ/BMP pathway, i.
View Article and Find Full Text PDFA common haplotype in NAPEPLD is associated with severe obesity in a Norwegian population-based cohort (the HUNT study).
Obesity (Silver Spring)
March 2011
Department of Medical Genetics, Oslo University Hospital, Ullevål, Oslo, Norway.
Obesity has a strong genetic etiology involving numerous identified metabolic pathways and others not yet examined. We investigated the association between severe obesity and genetic variation in selected candidate genes, including three drug-related genes: cannabinoid receptor 1 (CNR1), N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), and gastric lipase (LIPF); and three genes related to inflammation: nicotinamide phosphoribosyltransferase, six-transmembrane epithelial antigen of the prostate 4 (STEAP4) and interleukin 18 (IL-18). Subjects were 1,632 individuals with severe obesity (BMI ≥ 35 kg/m²) and 3,379 controls (BMI 20-24.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!