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Topic Review
CfDNA Sequencing
Cell free circulating DNA (cfDNA) refers to DNA fragments present outside of cells in body fluids such as plasma, urine, and cerebrospinal fluid (CSF). CfDNA was first identified in 1948 from plasma of healthy individuals. Afterward, studies showed that the quantity of this cfDNA in the blood was increased under pathological conditions such as auto-immune diseases but also cancers.
  • 1.4K
  • 06 Jul 2021
Topic Review
Initiation of DNA Replication
DNA replication is fundamental to the maintenance and diversification of life. In eukaryotic cells, DNA replication initiates from multiple origins deployed across the whole genome, implying the need for a tight orchestration of their firing. Complex multi-step regulatory mechanisms coordinate such efforts and ensure that the genome is fully duplicated. Notably, a large excess of DNA replication origins are present throughout the human genome, with only 5–10% of them firing throughout S phase. Based on their usage, DNA replication origins are classified into the following three categories: (1) constitutive origins that invariably fire in all cells of a population, (2) flexible origins (the majority) that only fire in some cells of a population, and (3) dormant origins that are kept silent during normal conditions but can become activated upon DNA damage when a replication fork stalls in the vicinity.
  • 1.4K
  • 04 Jul 2023
Topic Review
PIK3CA Gene
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
  • 1.4K
  • 25 Dec 2020
Topic Review
Parkinson Disease
Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.
  • 1.4K
  • 06 Sep 2023
Topic Review
Genomic Selection of Complex Traits in Alfalfa
Genomic selection (GS) is an alternative approach in which genome-wide markers are used to determine the genomic estimated breeding value (GEBV) of individuals in a population. In alfalfa (Medicago sativa L.), previous results indicated that low to moderate prediction accuracy values (<70%) were obtained in complex traits, such as yield and abiotic stress resistance. There is a need to increase the prediction value in order to employ GS in breeding programs.
  • 1.4K
  • 09 Dec 2021
Topic Review
17q12 duplication
17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.
  • 1.4K
  • 23 Dec 2020
Topic Review
Sex Maintenance in Mammals
Sex maintenance in mammals is important in sexual differentiation. The crucial event in mammalian sexual differentiation occurs at the embryonic stage of sex determination, when the bipotential gonads differentiate as either testes or ovaries, according to the sex chromosome constitution of the embryo, XY or XX, respectively. Once differentiated, testes produce sexual hormones that induce the subsequent differentiation of the male reproductive tract. On the other hand, the lack of masculinizing hormones in XX embryos permits the formation of the female reproductive tract. It was long assumed that once the gonad is differentiated, this developmental decision is irreversible. However, several findings in the last decade have shown that this is not the case and that a continuous sex maintenance is needed. Deletion of Foxl2 in the adult ovary lead to ovary-to-testis transdifferentiation and deletion of either Dmrt1 or Sox9/Sox8 in the adult testis induces the opposite process. In both cases, mutant gonads were genetically reprogrammed, showing that both the male program in ovaries and the female program in testes must be actively repressed throughout the individual’s life. In addition to these transcription factors, other genes and molecular pathways have also been shown to be involved in this antagonism. 
  • 1.4K
  • 27 Jul 2021
Topic Review
Circular RNAs
Cardiovascular disease (CVD) is the leading cause of morbidity and mortality in adults in developed countries. CVD encompass many diseased states including hypertension, coronary artery disease and atherosclerosis. Studies in animal models and human studies have elucidated the contribution of many genetic factors, including non-coding RNAs. Non-coding RNAs are RNAs not translated into protein, involved in gene expression regulation post-transcriptionally and implicated in CVD. These include long non-coding RNAs. Of these, circular RNAs (circRNAs) and micro RNAs. CircRNAs are created by the back-splicing of pre-messenger RNA and have been underexplored as contributors to CVD. These circRNAs may also act as biomarkers of human disease as they can be extracted from whole blood, plasma, saliva and seminal fluid. CircRNAs have recently been implicated in various disease processes, including hypertension and other cardiovascular disease. This review article will explore the promising and emerging roles of circRNAs as potential biomarkers and therapeutic targets in CVD, in particular hypertension.
  • 1.3K
  • 06 Nov 2020
Topic Review
3q29 Microdeletion Syndrome
3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a condition that results from the deletion of a small piece of chromosome 3 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q29.
  • 1.3K
  • 23 Dec 2020
Topic Review
TTN Gene
Titin
  • 1.3K
  • 04 Jan 2021
Topic Review
CRISPR/Cas-Based Gene Editing
There is a growing need for a molecular vehicle that can successfully load and deliver CRISPR/Cas ribonucleoprotein complexes (and other gene editing systems) into target tissues. Synthetic delivery vehicles are being developed but so far have been only moderately successful. Extracellular vesicles are ideal candidates for a universal biological platform to produce ready-to-use, programmable, and highly biocompatible CRISPR therapeutics. Using extracellular vesicles in the CRISPR/Cas research and, ultimately, in the clinic, demands novel, advanced techniques for protein/RNA loading, surface engineering, and manufacturing. Safety of CRISPR/Cas systems and EVs also need to be tested extensively for every particular application.
  • 1.3K
  • 03 Nov 2020
Topic Review
Lactose Intolerance
Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine.
  • 1.3K
  • 04 Jan 2021
Topic Review
The Role of Uric Acid in Human Health
Uric acid is the final product of purine metabolism and is converted to allantoin in most mammals via the uricase enzyme. The accumulation of loss of function mutations in the uricase gene rendered hominoids (apes and humans) to have higher urate concentrations compared to other mammals. The loss of human uricase activity may have allowed humans to survive environmental stressors, evolution bottlenecks, and life-threatening pathogens. While high urate levels may contribute to developing gout and cardiometabolic disorders such as hypertension and insulin resistance, low urate levels may increase the risk for neurodegenerative diseases. The double-edged sword effect of uric acid has resurrected a growing interest in urate’s antioxidant role and the uricase enzyme’s role in modulating the risk of obesity. 
  • 1.3K
  • 13 Oct 2023
Topic Review
Tangier Disease
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood.
  • 1.3K
  • 23 Dec 2020
Topic Review
Genetics of Azoospermia
Azoospermia affects 1% of men, and it can be due to: (i) hypothalamic-pituitary dysfunction, (ii) primary quantitative spermatogenic disturbances, (iii) urogenital duct obstruction. Known genetic factors contribute to all these categories, and genetic testing is part of the routine diagnostic workup of azoospermic men. The diagnostic yield of genetic tests in azoospermia is different in the different etiological categories, with the highest in Congenital Bilateral Absence of Vas Deferens (90%) and the lowest in Non-Obstructive Azoospermia (NOA) due to primary testicular failure (~30%). Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening.
  • 1.3K
  • 11 May 2021
Topic Review
HSAN2
Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch to the brain. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic neurons, which control involuntary body functions such as heart rate, digestion, and breathing. The sensory and autonomic neurons are part of the body's peripheral nervous system, which comprises the nerves outside the brain and spinal cord. HSAN2 is considered a form of peripheral neuropathy.
  • 1.3K
  • 04 Jan 2021
Topic Review
Breast Cancer and Genetic Alterations
Breast cancer is a heterogeneous disease, and numerous associated genetic alterations have been identified.
  • 1.3K
  • 08 Jul 2022
Topic Review
TRPM6 Gene
Transient receptor potential cation channel subfamily M member 6: The TRPM6 gene provides instructions for making a protein that acts as a channel, which allows charged atoms (ions) of magnesium (Mg2+) to flow into cells; the channel may also allow small amounts of calcium ions (Ca2+) to pass through cells. 
  • 1.3K
  • 25 Dec 2020
Topic Review
Small Nucleolar Derived RNAs as Regulators of Cancer
RNA fragments derived from full-length small nucleolar RNAs (snoRNAs) have been shown to be specifically excised and functional. These sno-derived RNAs (sdRNAs) have been implicated as gene regulators in a multitude of cancers, controlling a variety of genes post-transcriptionally via association with the RNA-induced silencing complex (RISC).
  • 1.3K
  • 31 Aug 2022
Topic Review
TMEM39B
Transmembrane protein 39B (TMEM39B) is a protein that in humans is encoded by the gene TMEM39B. TMEM39B is a multi-pass membrane protein with eight transmembrane domains. The protein localizes to the plasma membrane and vesicles. The precise function of TMEM39B is not yet well-understood by the scientific community, but differential expression is associated with survival of B cell lymphoma, and knockdown of TMEM39B is associated with decreased autophagy in cells infected with the Sindbis virus. Furthermore, the TMEM39B protein been found to interact with the SARS-CoV-2 ORF9C (also known as ORF14) protein. TMEM39B is expressed at moderate levels in most tissues, with higher expression in the testis, placenta, white blood cells, adrenal gland, thymus, and fetal brain.
  • 1.3K
  • 21 Nov 2022
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