-
541
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
Published 2024-01-01“…Microrchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription through chromatin remodelling and epigenetic silencing. MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism. …”
Get full text
Article -
542
Redox Signaling in Diabetic Nephropathy: Hypertrophy versus Death Choices in Mesangial Cells and Podocytes
Published 2015-01-01“…Main topics this review is addressing are biomarkers of oxidative stress in diabetic nephropathy, the sources of reactive oxygen species (mitochondria, NADPH-oxidases, hyperglycemia, and inflammation), and the redox-sensitive signaling networks (protein kinases, transcription factors, and epigenetic regulators). Molecular switches deciding on the renal cells fate in diabetic nephropathy are presented, such as hypertrophy versus death choices in mesangial cells and podocytes. …”
Get full text
Article -
543
Non-coding RNAs participate in interactions between senescence and gastrointestinal cancers
Published 2025-01-01“…., genomic instability, epigenetic alterations, chronic inflammation, and dysbiosis, along with two “antagonistic hallmarks” i.e., telomere attrition and stem cell exhaustion. …”
Get full text
Article -
544
Germline and reproductive tract effects intensify in male mice with successive generations of estrogenic exposure.
Published 2017-07-01“…These multi- and transgenerational effects are assumed to result from epigenetic changes to the germline, but few studies have directly analyzed germ cells. …”
Get full text
Article -
545
miRNAs and Melanoma: How Are They Connected?
Published 2012-01-01“…Therefore, this review aims to discuss new findings about miRNAs in melanoma fields, underlying epigenetic processes, and also to argue possibilities of using miRNAs in melanoma diagnosis and therapy.…”
Get full text
Article -
546
Synapse Plasticity in Motor, Sensory, and Limbo-Prefrontal Cortex Areas as Measured by Degrading Axon Terminals in an Environment Model of Gerbils (Meriones unguiculatus)
Published 2009-01-01“…Still little is known about naturally occurring synaptogenesis in the adult neocortex and related impacts of epigenetic influences. We therefore investigated (pre)synaptic plasticity in various cortices of adult rodents, visualized by secondary lysosome accumulations (LA) in remodeling axon terminals. …”
Get full text
Article -
547
Advances in Gene Therapy for Neurologic Disorders: An Overview
Published 2025-02-01“…Neurologic disease-related events, such as genetic and epigenetic changes, cause inflammatory processes in the area which may enhance the disease cycle. …”
Get full text
Article -
548
PTEN Gene: A Model for Genetic Diseases in Dermatology
Published 2012-01-01“…A recent model sees PTEN function as a stepwise gradation, which can be impaired not only by heterozygous mutations and homozygous losses, but also by other molecular mechanisms, such as transcriptional regression, epigenetic silencing, regulation by microRNAs, posttranslational modification, and aberrant localization. …”
Get full text
Article -
549
Functions and applications of RNA interference and small regulatory RNAs
Published 2024-11-01“…This process involves Argonaute/small RNA (AGO/sRNA) complexes that target transcripts via sequence complementarity and modulate gene expression and epigenetic modifications. RNAi is a highly conserved gene regulatory phenomenon that recognizes self- and non-self nucleic acids, thereby defending against invasive sequences. …”
Get full text
Article -
550
TRIM21-mediated PRMT1 degradation attenuates colorectal cancer malignant progression
Published 2025-01-01Get full text
Article -
551
Heterogeneous nuclear ribonucleoprotein H1 and its function in tumor development and metastasis
Published 2024-12-01“…Heterogeneous nuclear ribonucleoprotein (hnRNP) and heterogeneous nuclear RNA (hnRNA) form complexes that regulate RNA splicing and transportation. hnRNPH1 is a member of the hnRNP family of proteins and plays an important role in physiological processes, including embryonic development of the nervous and reproductive systems. hnRNPH1 is highly expressed in various tumor tissues and tumor cells, and its overexpression correlates with poor prognosis in patients. hnRNPH1 enhances tumor cell proliferation and metastasis through the regulation of alternative splicing of genes, modulation of gene expression, formation of fusion genes with other genes, and involvement in epigenetic regulation.Recent studies have shown that hnRNPH1 could serve as a potential biomarker for certain tumors, and hnRNPH1-targeting drugs show preliminary efficacy in a mouse model of melanoma. …”
Get full text
Article -
552
The Role of Methylation in Chronic Lymphocytic Leukemia and Its Prognostic and Therapeutic Impacts in the Disease: A Systematic Review
Published 2024-01-01“…Epigenetic regulation has been thoroughly investigated in recent years and has emerged as an important aspect of chronic lymphocytic leukemia (CLL) biology. …”
Get full text
Article -
553
Regeneration of Zebrafish CNS: Adult Neurogenesis
Published 2016-01-01“…We intend to discuss our current understanding of the cellular and molecular mechanism(s) that allows formation of proliferating progenitors and controls neurogenesis, which involve changes in epigenetic and transcription programs. Unlike mammals, zebrafish retains radial glia, a nonneuronal cell type in their adult central nervous system. …”
Get full text
Article -
554
A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformations
Published 2025-02-01“…Abstract Genomic imprinting controls parental allele-specific gene expression via epigenetic mechanisms. Abnormal imprinting at the GNAS gene causes multiple phenotypes, including pseudohypoparathyroidism type-1B (PHP1B), a disorder of multihormone resistance. …”
Get full text
Article -
555
Enigma of Retrotransposon Biology in Mammalian Early Embryos and Embryonic Stem Cells
Published 2018-01-01“…Retrotransposons are epigenetically silenced in most somatic tissues and become reactivated in early embryos. …”
Get full text
Article -
556
A Review of Fish Anomalies in Türkiye’s Waters
Published 2024-10-01“…According to the literature, possible factors causing anomalies can be discussed under four general headings; environmental (anthropogenic factors, industrial activities, industrial chemicals, trace elements, pollution, light intensity, pesticide usage), biological (endocrine system, genetic, teratological cases, epigenetic, nutritional problems, parasitic or physiologic reasons, oxidative stress, pigment deficiency), ecological (attacked by carnivores, competition, changes in water parameters), and fishery-related (ghost fishing). …”
Get full text
Article -
557
Perspectives of Integrative Cancer Genomics in Next Generation Sequencing Era
Published 2012-06-01“…The explosive development of genomics technologies including microarrays and next generation sequencing (NGS) has provided comprehensive maps of cancer genomes, including the expression of mRNAs and microRNAs, DNA copy numbers, sequence variations, and epigenetic changes. These genome-wide profiles of the genetic aberrations could reveal the candidates for diagnostic and/or prognostic biomarkers as well as mechanistic insights into tumor development and progression. …”
Get full text
Article -
558
Interspecific incompatibility in wide hybridization of plants and ways to overcome
Published 2016-09-01“…Postzygotic incompatibility may be associated with a highly pronounced genetic and epigenetic variability induced by wide crossings. Early stages of the postzygotic period are crucial for developing hybrid seeds due to embryo’s death, including those associated with uniparental chromosome elimination in hybrid cells and abnormal development of the endosperm. …”
Get full text
Article -
559
Susceptibility to Aneuploidy in Young Mothers of Down Syndrome Children
Published 2009-01-01“…Multiple risk factors are likely involved in chromosome nondisjunction; they act at different times in the meiotic process and can be of genetic or environmental (epigenetic) origin. We also discuss the increased risk of developing Alzheimer's disease (AD) later in life that was observed in women who had a DS child at a young age. …”
Get full text
Article -
560
Circulating LncRNA Is Potentially Up-regulated in Coronary Artery Disease
Published 2018-12-01“…Recent studies have revealed that aberrantly regulated long non-coding RNA (lncRNA) as one of the main classes of cellular transcript plays a key regulatory role in transcriptional and epigenetic pathways. Recent reports have demonstrated that circulating lncRNAs in the blood can be potential biomarkers for CAD. …”
Get full text
Article