Results 131 to 140 of about 1,353,029 (249)
Adipocyte‐derived KIF13B promotes LRP1 localization and nuclear LRP1–PPARγ transcriptional activity, thereby enhancing adipogenic gene expression, lipid accumulation, and obesity‐associated metabolic dysfunction. Adipocyte‐specific Kif13b deletion disrupts this LRP1/PPARγ axis, suppresses adipogenic programming, reduces adipose expansion, and protects ...
Guolin Miao +19 more
wiley +1 more source
Biochemical markers predicting survival in peroxisome biogenesis disorders
OBJECTIVE: To identify prognostic markers reflecting the extent of peroxisome dysfunction in primary skin fibroblasts from patients with peroxisome biogenesis disorders (PBD).
Barth, P. G. +6 more
core
ABSTRACT Type 2 diabetes mellitus (T2DM) has increasingly been identified as a risk factor for sensorineural hearing loss, whereas the association between different antidiabetic therapies and hearing thresholds remains poorly characterized. This retrospective observational study evaluated 240 patients with T2DM and 105 normoglycemic controls who ...
Francesco Martines +8 more
wiley +1 more source
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
Genotype–Phenotype Correlations in Disorders of Peroxisome Biogenesis
Genetically determined human peroxisomal disorders are subdivided into two major categories: disorders of peroxisome biogenesis (PBD), in which the organelle is not formed normally, and those that involve a single peroxisomal enzyme. Twelve PBD have been identified, and the molecular defects have been defined in 10. All involve defects in the import of
openaire +2 more sources
ABSTRACT Aim Skeletal muscle atrophy is tightly associated with maladaptive alterations in mitochondrial function and morphology. Itchy E3 ubiquitin‐protein ligase (ITCH) modulates mitochondria, and thrombospondin 1 (THBS1) positively regulates muscle atrophy, but their roles in muscle atrophy are unclear. Methods A muscle atrophy model was established
Wan Yu, Yanteng Wang, Na Li, Difei Wang
wiley +1 more source
Background Loss-of-function mutations in PEX3 have been associated with Zellweger syndrome (ZS), a severe form of peroxisome biogenesis disorder (PBD) characterized by significant global developmental delay, muscle weakness with bilateral ptosis ...
Jinfeng Su +3 more
doaj +1 more source
Molecular analysis of the peroxisome biogenesis disorders
A group of human disorders arise from abnormal metabolic function of peroxisomes, small organelles found in the cells of most tissues. These abnormalities are caused by defects in the processes by which peroxisomes are formed in cells, and now known to ...
core
ABSTRACT Doxorubicin (DOX) and cyclophosphamide (CP) are widely used chemotherapeutic agents with known gonadotoxic effects. Since miRNAs play a key role in the transcriptional regulation of spermatogenesis, they are suggested as biomarkers for male infertility.
Hülya Öztatlıcı +4 more
wiley +1 more source

