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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
TTN Gene
Titin
  • 1.3K
  • 04 Jan 2021
Topic Review
Hypoxia-inducible Factors
Hypoxia-inducible factors (HIFs) are transcription factors that respond to decreases in available oxygen in the cellular environment, or hypoxia.
  • 1.3K
  • 19 Oct 2022
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
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
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.
  • 1.3K
  • 09 Dec 2021
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
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
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
Breeding Diploid F1 Hybrid Potatoes
Diploid potatoes can be converted from an outbreeding species, in which self-pollination is prevented by a gametophytic self-incompatibility system, into one where self-pollination is possible, either through a dominant self-incompatibility inhibitor gene (Sli) or knockout mutations in the incompatibility locus.
  • 1.3K
  • 29 Apr 2022
Topic Review
Cupriavidus metallidurans CH34
Bacteria are increasingly used for biotechnological applications such as bioremediation, biorecovery, bioproduction, and biosensing. The development of strains suited for such applications requires a thorough understanding of their behavior, with a key role for their transcriptomic landscape. We present a thorough analysis of the transcriptome of Cupriavidus metallidurans CH34 cells acutely exposed to copper by tagRNA-sequencing. C. metallidurans CH34 is a model organism for metal resistance, and its potential as a biosensor and candidate for metal bioremediation has been demonstrated in multiple studies. In total, 7500 transcription start sites (TSSs) were annotated and classified with respect to their location relative to coding sequences (CDSs). Predicted TSSs were used to re-annotate 182 CDSs. The TSSs of 2422 CDSs were detected, and consensus promotor logos were derived. Interestingly, many leaderless messenger RNAs (mRNAs) were found. In addition, many mRNAs were transcribed from multiple alternative TSSs. We observed pervasive intragenic TSSs both in sense and antisense to CDSs. Antisense transcripts were enriched near the 50 end of mRNAs, indicating a functional role in post-transcriptional regulation. In total, 578 TSSs were detected in intergenic regions, of which 35 were identified as putative small regulatory RNAs. Finally, we provide a detailed analysis of the main copper resistance clusters in CH34, which include many intragenic and antisense transcripts. These results clearly highlight the ubiquity of noncoding transcripts in the CH34 transcriptome, many of which are putatively involved in the regulation of metal resistance.
  • 1.3K
  • 14 Sep 2020
Topic Review
Epigenetics and Myotonic Dystrophy Type 1
Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in the dynamics of CTG repeat instability and in the manifestations and progression of the disease. The largest expanded alleles are generally associated with the earliest and most severe clinical form. However, CTG repeat length alone is not sufficient to predict disease severity and progression, suggesting the involvement of other factors. Several data support the role of epigenetic alterations in clinical and genetic variability observed in DM1.
  • 1.3K
  • 07 Apr 2022
Topic Review
ADPEAF
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing.
  • 1.3K
  • 04 Jan 2021
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
Genetics of Alternative Lateral Horse Gaits
In addition to the “natural” gaits of walk, trot, and canter/gallop found in nearly all horse breeds, there are additional gaits spontaneously displayed in certain domestic horse breeds (i.e., gaited horses). All of these additional gaits are symmetrical lateral sequence gaits, i.e., possessing a footfall pattern of left hind, left front, right hind, and right front, and so can be called alternative lateral gaits. What is known about the genetics of alternative lateral gaits is explored. Studies have shown a strong correlation of gaitedness in horses with possession of the A-allele of the DMRT3 "gait keeper" gene. Horses homozygous for the A-allele are able to perform a pacing gait and sustain it at high speeds. Horses that can perform a running walk, rack, or broken pace (stepping pace) are either heterozygous or homozygous for the A-allele of the "gait keeper" gene. The A-allele of this gene functions by disrupting coordination of diagonal or contralateral limbs and allowing retention of square or "singlefoot" gaits, wherein limbs move mostly independently of each other, into intermediate speed ranges. It now seems, however, that the broken trot gait (i.e. the fox trot) is not governed by the DMRT3 gene as select horse breeds lacking the A-allele can still perform this gait.
  • 1.3K
  • 17 Aug 2023
Topic Review
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare disorder that primarily affects the development of the brain.
  • 1.3K
  • 23 Dec 2020
Topic Review
ECM1 Gene
Extracellular matrix protein 1
  • 1.3K
  • 24 Dec 2020
Topic Review
Genome Editing Among Bioethics and Regulatory Practices
In the last decade, genome editing technologies became very effective and several clinical trials have been started in order to use them for treating some genetic diseases. Interestingly, despite more than 50 years of discussion about the frontiers of genetics in human health and evolution, the debate about the bioethics and the regulatory practices of genome editing is still far from satisfactory answers. This delay results from an excessive emphasis on the effectiveness of the genome editing technologies that is relevant for the regulatory practices, but not at a bioethical level. Indeed, other factors (such as accessibility and acceptability) could make these techniques not accepted at the bioethical level, even in the presence of their 100% effectiveness.
  • 1.3K
  • 31 Dec 2021
Topic Review
Actin-accumulation Myopathy
Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.
  • 1.3K
  • 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. 
  • 1.3K
  • 27 Jul 2021
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