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Topic Review
Lafora Progressive Myoclonus Epilepsy
Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.
  • 576
  • 23 Dec 2020
Topic Review
MSX2 Gene
msh homeobox 2
  • 575
  • 23 Dec 2020
Topic Review
Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body.
  • 573
  • 24 Dec 2020
Topic Review
The Role of Genetic Polymorphisms in Diabetic Retinopathy
Diabetic retinopathy (DR) is renowned as a leading cause of visual loss in working-age populations with its etiopathology influenced by the disturbance of biochemical metabolic pathways and genetic factors, including gene polymorphism. Metabolic pathways considered to have an impact on the development of the disease, as well as genes and polymorphisms that can affect the gene expression, modify the quantity and quality of the encoded product (protein), and significantly alter the metabolic pathway and its control, and thus cause changes in the functioning of metabolic pathways.
  • 573
  • 08 Nov 2023
Topic Review
GPC3 Gene
Glypican 3
  • 571
  • 22 Dec 2020
Topic Review
MMP14 Gene
matrix metallopeptidase 14
  • 570
  • 22 Dec 2020
Topic Review
TSEN54 Gene
tRNA splicing endonuclease subunit 54
  • 570
  • 22 Dec 2020
Topic Review
Directed Cycles Evolve with Junk DNA
Cell responses are usually viewed as transitive events with fixed inputs and outputs that are regulated by feedback loops. In contrast, directed cycles (DCs) have all nodes connected, and the flow is in a single direction. Consequently, DCs can regenerate themselves and implement intransitive logic. DCs are able to couple unrelated chemical reactions to each edge. The output depends upon which node is used as input.
  • 570
  • 22 Nov 2023
Topic Review
MPV17 Gene
mitochondrial inner membrane protein MPV17
  • 565
  • 23 Dec 2020
Topic Review
CLN5 Gene
CLN5, intracellular trafficking protein
  • 565
  • 24 Dec 2020
Topic Review
Epigenetic Alterations of Bladder Cancer
Bladder cancer (BLCA) is one of the most common types of malignant tumors of the urogenital system in adults. BLCA predominantly originates in the urothelium, which refers to the epithelial tissue lining the inner surface of the bladder and other urinary organs. This characteristic gives rise to urothelial carcinoma, which represents the most prevalent form of bladder cancer, constituting approximately 80–90 percent of all BLCA cases.
  • 565
  • 27 Jun 2023
Topic Review
Sixteen Gene Therapy Drugs
Gene therapy has become a rapidly growing field with significant advancements. This innovative therapeutic approach is revolutionizing the treatment of various diseases. Gene therapy drugs have revolutionized the field of medicine by providing a targeted approach to treating genetic disorders. 
  • 562
  • 22 Jan 2024
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.
  • 561
  • 01 Mar 2024
Topic Review
mTOR Signaling Pathway in Cell Growth
The evolutionarily conserved target of rapamycin (TOR) serine/threonine kinase controls eukaryotic cell growth, metabolism and survival by integrating signals from the nutritional status and growth factors. TOR is the catalytic subunit of two distinct functional multiprotein complexes termed mTORC1 (mechanistic target of rapamycin complex 1) and mTORC2, which phosphorylate a different set of substrates and display different physiological functions. Dysregulation of TOR signaling has been involved in the development and progression of several disease states including cancer and diabetes. 
  • 560
  • 30 Nov 2023
Topic Review
JAK3-Deficient Severe Combined Immunodeficiency
JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people.
  • 558
  • 23 Dec 2020
Topic Review
Single Omic Layer Analyses in Colorectal Cancer
Colorectal cancer is a major health concern since it is a highly diagnosed cancer and the second cause of death among cancers. Thus, the most suitable biomarkers for its diagnosis, prognosis, and treatment have been studied to improve and personalize the prevention and clinical management of colorectal cancer. The emergence of omic techniques has provided a great opportunity to better study CRC and make personalized medicine feasible.
  • 558
  • 02 Aug 2023
Topic Review
GRIP1 Gene
Glutamate receptor interacting protein 1
  • 556
  • 22 Dec 2020
Topic Review
MSX1 Gene
msh homeobox 1
  • 554
  • 23 Dec 2020
Topic Review
CHMP2B Gene
charged multivesicular body protein 2B
  • 554
  • 24 Dec 2020
Topic Review
Genetic Code Symmetries Support Wobbling in Proteinogenesis
Genetic code symmetries in form of the Supersymmetry Genetic Code (SSYGC) table support the wobble hypothesis with non-Watson–Crick pairing interactions between the translation process from mRNA to tRNA. Namely, in 1966 F.H.C. Crick proposed the wobble hypothesis to explain this partial degeneracy. Without symmetries of genetic code wobbling interaction can have misreading error in proteinogenesis.
  • 553
  • 06 Feb 2025
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