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Topic Review
Constitutional SOX4 Variation in Human Disorders
SOX proteins are transcription factors which play a role in regulating the development of progenitor cells and tissue differentiation. Twenty members are known, clustered in eight groups named A through H and sharing a common DNA-binding domain called the HMG (high-mobility-group) box. Eleven of the SOX genes have been associated with genetic disorders so far, covering a broad spectrum of developmental diseases. SOX4 is a single-exon gene and belongs to the SOXC group, together with SOX11 and SOX12. SOX4 variants have been recently described to cause a highly penetrant but heterogeneous disorder, with a phenotypic spectrum ranging from mild developmental delays and learning difficulties to intellectual disabilities with congenital anomalies. Nineteen pathogenic variants have been reported to date, generally de novo, heterozygous, and inactivating, either stop–gain or missense, the latter ones primarily targeting the HMG domain.
  • 205
  • 01 Mar 2024
Topic Review
Therapeutic Potential of Ganoderma lucidum in Cancer
Triterpenoids, such as ganoderic acid, and polysaccharides, including β-D-glucans, α-D-glucans, and α-D-mannans, are the main secondary metabolites of the medicinal fungus Ganoderma lucidum. There is evidence of the effects of ganoderic acid in hematological malignancies, whose mechanisms involve the stimulation of immune response, the macrophage-like differentiation, the activation of MAP-K pathway, an IL3-dependent cytotoxic action, the induction of cytoprotective autophagy, and the induction of apoptosis. In fact, this compound has been tested in twenty-six different human cancer cell types and has shown an anti-proliferative activity, especially in leukemia, lymphoma, and myeloma lines. 
  • 139
  • 01 Mar 2024
Topic Review
Anakinra Therapy for Deficiency of Interleukin-1 Receptor Antagonist
Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autosomal recessive autoinflammatory disease with symptoms including but not limited to osteomyelitis, periostitis, and systemic inflammation. DIRA is developed from the loss-of-function biallelic mutations of the IL1RN gene that encodes IL-1 receptor antagonist (IL-1RA), leading to the unchecked pro-inflammatory signaling and subsequent systemic inflammation. 
  • 98
  • 01 Mar 2024
Topic Review
Biochemical Dysfunctions Related to MT-ATP6/MT-ATP8 Pathogenic Variants
Mitochondrial ATP synthase (Complex V) catalyzes the last step of oxidative phosphorylation and provides most of the energy (ATP) required by human cells. The mitochondrial genes MT-ATP6 and MT-ATP8 encode two subunits of the multi-subunit Complex V. Since the discovery of the first MT-ATP6 variant in the year 1990 as the cause of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome, a large and continuously increasing number of inborn variants in the MT-ATP6 and MT-ATP8 genes have been identified as pathogenic. Variants in these genes correlate with various clinical phenotypes, which include several neurodegenerative and multisystemic disorders.
  • 143
  • 01 Mar 2024
Topic Review
Developmental Impacts of Epigenetics and Metabolism in COVID-19
Developmental biology is intricately regulated by epigenetics and metabolism but the mechanisms are not completely understood. The situation becomes even more complicated during diseases where all three phenomena are dysregulated. A salient example is COVID-19, where the death toll exceeded 6.96 million in 4 years, while the virus continues to mutate into different variants and infect people. Early evidence during the pandemic showed that the host’s immune and inflammatory responses to COVID-19 (like the cytokine storm) impacted the host’s metabolism, causing damage to the host’s organs and overall physiology. The involvement of angiotensin-converting enzyme 2 (ACE2), the pivotal host receptor for the SARS-CoV-2 virus, was identified and linked to epigenetic abnormalities along with other contributing factors.
  • 143
  • 01 Mar 2024
Topic Review
Feeding Value of Grain Legumes
Grain legumes are fair sources of protein, amino acids and energy, and can be used as a replacement for soybean meal in poultry feed formulations as the soybean meal becomes short in supply and costly. However, a concern associated with the use of grain legumes in poultry feeding is the presence of antinutritional factors. The effective processing and utilisation of these grain legumes in poultry feeding are well documented. Four selected grain legumes (lupins [Lupinus albus and Lupinus angustifolius], field peas [Phaseolus vulgaris], faba beans [Vicia faba] and chickpeas [Cicer arietinum]) and their nutrient content, the presence of antinutritional factors, processing methods and feeding value are focused.
  • 93
  • 01 Mar 2024
Topic Review
Reactive Carbonyl Species and Protein Lipoxidation in Atherogenesis
Atherosclerosis is a multifactorial disease of medium and large arteries, characterized by the presence of lipid-rich plaques lining the intima over time. It is the main cause of cardiovascular diseases and death worldwide. Redox imbalance and lipid peroxidation could play key roles in atherosclerosis by promoting a bundle of responses, including endothelial activation, inflammation, and foam cell formation. The oxidation of polyunsaturated fatty acids generates various lipid oxidation products such as reactive carbonyl species (RCS), including 4-hydroxy alkenals, malondialdehyde, and acrolein. RCS covalently bind to nucleophilic groups of nucleic acids, phospholipids, and proteins, modifying their structure and activity and leading to their progressive dysfunction. Protein lipoxidation is the non-enzymatic post-translational modification of proteins by RCS. Low-density lipoprotein (LDL) oxidation and apolipoprotein B (apoB) modification by RCS play a major role in foam cell formation. Moreover, oxidized LDLs are a source of RCS, which form adducts on a huge number of proteins, depending on oxidative stress intensity, the nature of targets, and the availability of detoxifying systems. Many systems are affected by lipoxidation, including extracellular matrix components, membranes, cytoplasmic and cytoskeletal proteins, transcription factors, and other components.
  • 89
  • 01 Mar 2024
Topic Review
7-Methyljuglone in Tuberculosis Treatment
7-Methyljuglone (7-MJ) is a pure compound isolated from the roots of Euclea natalensis A. DC., a shrub indigenous to South Africa. It exhibits significant promise as a potential treatment for the highly communicable disease tuberculosis (TB), owing to its effective antimycobacterial activity against Mycobacterium tuberculosis. 
  • 131
  • 01 Mar 2024
Topic Review
Circulating Tumor Cells as Precursors of Metastasis
Circulating tumor cells are cancer cells that detach from the primary tumor and enter the bloodstream. These cancer cells in the blood stream eventually result in secondary tumor growth referred to as metastasis. Research on circulating tumor cells is crucial because they can provide valuable insights into cancer progression and treatment response that enhances the patient outcomes. Findings from circulating-tumor-cell-based research can also shed light on cancer metastasis, drug resistance, and tumor evolution, ultimately benefiting the research community by advancing our understanding of cancer biology and guiding the development of innovative treatments. 
  • 193
  • 01 Mar 2024
Topic Review
Somatic Cell Sources for Reprogramming
Induced pluripotent stem cells (iPSCs) were first generated by Yamanaka in 2006, revolutionizing research by overcoming limitations imposed by the use of embryonic stem cells. In terms of the conservation of endangered species, iPSC technology presents itself as a viable alternative for the manipulation of target genetics without compromising specimens.
  • 154
  • 01 Mar 2024
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