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CMA mediates resistance in breast cancer models
BackgroundBreast cancer (BC) is the most common malignancy in women and the second leading cause of cancer-related death; chemoresistance is still a...
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p38-TFEB pathways promote microglia activation through inhibiting CMA-mediated NLRP3 degradation in Parkinson's disease
BackgroundParkinson’s disease (PD) is characterized by degeneration of dopaminergic neurons in the substantia nigra pars compacta (SNpc), accompanied...
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Chaperone-Mediated Autophagy in Brain Injury: A Double-Edged Sword with Therapeutic Potentials
Autophagy is an intracellular recycling process that maintains cellular homeostasis by degrading excess or defective macromolecules and organelles....
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Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies
Understanding the underlying causes of congenital anomalies (CAs) can be a complex diagnostic journey. We aimed to assess the efficiency of exome...
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Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
BackgroundChromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD)....
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Manassantin A inhibits tumour growth under hypoxia through the activation of chaperone-mediated autophagy by modulating Hsp90 activity
BackgroundChaperon-mediated autophagy (CMA) has taken on a new emphasis in cancer biology. However, the roles of CMA in hypoxic tumours are poorly...
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Deferoxamine Ameliorates Cypermethrin-Induced Iron Accumulation and Associated Alterations
Iron is widely linked with the onset and development of Parkinson’s disease (PD). Accumulation of iron induces free radical generation and promotes...
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Combined metabolic activators improve cognitive functions in Alzheimer’s disease patients: a randomised, double-blinded, placebo-controlled phase-II trial
BackgroundAlzheimer’s disease (AD) is associated with metabolic abnormalities linked to critical elements of neurodegeneration. We recently...
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Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis
BackgroundThe genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and...
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The Use of Collagen Methacrylate in Actuating Polyethylene Glycol Diacrylate–Acrylic Acid Scaffolds for Muscle Regeneration
After muscle loss or injury, skeletal muscle tissue has the ability to regenerate and return its function. However, large volume defects in skeletal...
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Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis
Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray...
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Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
Fetal hyperechogenic kidneys (HEK) is etiologically a heterogeneous disorder. The aim of this study was to identify the genetic causes of HEK using...
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Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings
BackgroundNoninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for...
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LAMP2A regulates the balance of mesenchymal stem cell adipo-osteogenesis via the Wnt/β-catenin/GSK3β signaling pathway
AbstractChaperone-mediated autophagy (CMA) plays multiple roles in cell metabolism. We found that lysosome-associated membrane protein type 2A...
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HSP90 Inhibition Attenuated Isoflurane-Induced Neurotoxicity in Mice and Human Neuroglioma Cells
Isoflurane, a widely used inhalation anesthetic in clinical practice, is associated with an increased risk of neuronal injury. Heat shock protein 90...
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
BackgroundWith the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome...
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Diagnostic Methods for Ring Chromosomes
The molecular characterization of ring chromosome (RC) structural aberrations requires the use of cytogenomic techniques. The first RCs were...
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Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype
BackgroundCopy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need...
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Ring Chromosome 10
Ring chromosome 10 (RC10) has been described in the literature in 18 live-born patients, five of them with breakpoints identified by chromosome...
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Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
Background1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their...
