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Topic Review
MT-ND5 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
  • 1.5K
  • 23 Dec 2020
Topic Review
Tourette Syndrome
Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood.  
  • 1.5K
  • 23 Dec 2020
Topic Review
Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.
  • 1.5K
  • 24 Dec 2020
Topic Review
Schizophrenia
Schizophrenia is a brain disorder classified as a psychosis, which means that it affects a person's thinking, sense of self, and perceptions. The disorder typically becomes evident during late adolescence or early adulthood.
  • 1.5K
  • 04 Jan 2021
Topic Review
CFTR Gene
Cystic fibrosis transmembrane conductance regulator
  • 1.5K
  • 04 Jan 2021
Topic Review
PHARC Syndrome
PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa (RP) and early-onset cataract) is an acronym for a rare, neurodegenerative disease caused by biallelic variants in the ABHD12 gene
  • 1.5K
  • 12 Oct 2021
Topic Review
High-resolution melt method
HRM (High-resolution melt) analysis is a powerful molecular biology detection method used for the identification of genetic mutations, DNA methylation analysis or species identification. 
  • 1.5K
  • 27 Oct 2020
Topic Review
TRNT1 Deficiency
TRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the immune system, the eyes, and the nervous system. The severity of the signs and symptoms vary widely.  
  • 1.5K
  • 23 Dec 2020
Topic Review
HANAC
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. In people with HANAC syndrome, angiopathy affects several parts of the body. The blood vessels as well as thin sheet-like structures called basement membranes that separate and support cells are weakened and more susceptible to breakage.
  • 1.5K
  • 04 Jan 2021
Topic Review
Rodents as Model Organisms in Genetic Research
The advantages of using mouse models in biomedicine have been discussed extensively. Some benefits are the following: (i) the availability of genetic tools for creating disease models by transgenic, knockout, and knock-in technologies; (ii) inbred mouse strains are nearly isogenic, enabling to study how the same genetic mutation modifies a phenotype of interest in different genetic backgrounds; (iii) mouse tissues are available for omics studies which can be challenging to obtain from humans. Some limitations include different evolutive pressures for mice and humans; therefore, some systems, such as the immune system, do not function similarly in both species.
  • 1.5K
  • 22 Jul 2022
Topic Review
ADLD
Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates and protects nerve fibers and promotes the rapid transmission of nerve impulses.
  • 1.5K
  • 04 Jan 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.
  • 1.5K
  • 04 Jul 2023
Topic Review
HBSL
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a condition that affects the brain and spinal cord (central nervous system). In particular, the condition affects nerves in specific regions (called tracts) within the spinal cord and the brainstem, which is the part of the brain that connects to the spinal cord. HBSL is a form of leukodystrophy, which is a group of conditions that involve abnormalities of the nervous system's white matter. The white matter consists of nerve fibers covered by a fatty substance, called myelin, that insulates the fibers and promotes the rapid transmission of nerve impulses. In HBSL, the nervous system has a reduced ability to form myelin (hypomyelination).
  • 1.5K
  • 04 Jan 2021
Topic Review
Cryptogenic Cirrhosis
Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.
  • 1.5K
  • 24 Dec 2020
Topic Review
Yuan-Harel-Lupski Syndrome
Yuan-Harel-Lupski (YUHAL) syndrome is a rare neurological condition that has a combination of features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth disease.  
  • 1.5K
  • 24 Dec 2020
Topic Review
Adaptive Evolution
Adaptive evolution is a process in which variation that confers an evolutionary advantage in a specific environmental context arises and is propagated through a population. When investigating this process, researchers have mainly focused on describing advantageous phenotypes or putative advantageous genotypes. The main molecular mechanism underlying adaptive evolution in vertebrates is mutations, leading to regulatory changes in gene expression and/or cellular pathways.
  • 1.5K
  • 06 May 2023
Topic Review
Differentiation of Genes Encoding Peroxisome Proliferator-Activated Receptors
The heritability of the tendency to obesity is estimated to vary widely (from 5% to 90%), depending on the research method and the hypotheses being tested. Genetic components may play an important role, both in regulating metabolism and influencing behavioral aspects-in the presence of certain critical genetic variants, the dysregulation of energy metabolism can undoubtedly lead to an increased risk of obesity. Genes code for protein products that are directly involved in the processes of digestion, assimilation, and physiological utilization of nutrients supplied to the body. There are also genes whose products are important factors that influence the activation and regulation of various metabolic pathways and also determine the maintenance of the balance of metabolic changes and the shift of this balance in a specific direction. Finally, there are the genes that code for factors that influence human behavior, eating habits, dietary preferences and so on. Systemic regulation of metabolism takes place in human cells at many levels. At the deepest molecular level, metabolic flexibility depends on the configuration of many different metabolic pathways regulated by key transcription factors, many of which interact closely with each other. From this point of view, transcription factors are considered very important elements of metabolic regulatory networks. In this group, genes encoding peroxisome proliferator-activated receptors (PPARs) are among the best studied. PPARs provide balance in nutrient and energy metabolism and maintain metabolic flexibility important for lipid metabolism, glucose homeostasis, cholesterol metabolism, and other important metabolic networks. Differentiation of PPAR genes may affect the efficacy of reduction diets and post-exercise weight loss.
  • 1.4K
  • 06 Jan 2023
Topic Review
Shprintzen-Goldberg Syndrome
Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body.
  • 1.4K
  • 25 Dec 2020
Topic Review
5HTTLPR Genetic Variant
Major Depressive Disorder (MDD) is a disease that involves biological, psychological, and social interactions. Studies have shown the importance of genetics contribution to MDD development. The SCL6A4 protein (5HTTLPR) functions transporting serotonin, a neurotransmitter linked to mood and emotion, to the synaptic cleft. Hence, this study seeks a better comprehension of the 5HTTLPR genetic variant association with MDD and its influence nervous system through a literature review.  
  • 1.4K
  • 18 Nov 2020
Topic Review
Precision Medicine
Precision medicine is "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person."
  • 1.4K
  • 08 Apr 2021
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