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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
Topic Review
TBP Gene
TATA-box binding protein: The TBP gene provides instructions for making a protein called the TATA box binding protein. 
  • 1.4K
  • 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.
  • 1.4K
  • 06 May 2023
Topic Review
Smith-Magenis Syndrome
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body.
  • 1.4K
  • 25 Dec 2020
Topic Review
CASK-Related Intellectual Disability
CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth.
  • 1.4K
  • 24 Dec 2020
Topic Review
Pros and Cons of Expanded Carrier Screening
Expanded Carrier Screening (ECS) means using molecular techniques to simultaneously analyze multiple DNA mutations or genes responsible for several genetic diseases without a clear risk of inheritance in the individual/couple admitted to the test. In this way, it is possible to avoid biases related to incomplete familial information or difficulties related to the correct estimation of the ethnic risks, also considering the multiethnicity of modern societies. However, more data mean more information, including the so-called incidental findings and the consequent need to finely regulate ECS and the following communication of the obtained results.
  • 1.4K
  • 11 Apr 2022
Topic Review
Mediterranean Diet (MD)
The Mediterranean Diet (MD), UNESCO Intangible Cultural Heritage of Humanity, has become a scientific topic of high interest due to its health benefits. The aim of this review is to pick up selected studies that report nutrigenomic or nutrigenetic data and recapitulate some of the biochemical/genomic/genetic aspects involved in the positive health effects of the MD. These include (i) the antioxidative potential of its constituents with protective effects against several diseases; (ii) the epigenetic and epigenomic effects exerted by food components, such as Indacaxanthin, Sulforaphane, and 3-Hydroxytyrosol among others, and their involvement in the modulation of miRNA expression; (iii) the existence of predisposing or protective human genotypes due to allelic diversities and the impact of the MD on disease risk. A part of the review is dedicated to the nutrigenomic effects of the main cooking methods used in the MD and also to a comparative analysis of the nutrigenomic properties of the MD and other diet regimens and non-MD-related aliments. Taking all the data into account, the traditional MD emerges as a diet with a high antioxidant and nutrigenomic modulation power, which is an example of the “Environment-Livings-Environment” relationship and an excellent patchwork of interconnected biological actions working toward human health.
  • 1.4K
  • 25 Apr 2021
Topic Review
Pharmacogenetics in Gout Management
Pharmacogenetics (PGx) is an emerging field of pharmacology focusing on how gene variations affect the patient’s response to treatment. Pharmacogenetics is a promising tool to optimize the selection and dosing of medications, including urate-lowering therapies (ULTs) among patients with gout. The global prevalence of gout is rising, and it disproportionately affects specific racial groups and individuals with select socioeconomic status. Genetic and experimental findings have provided evidence that genetic polymorphisms associated with serum urate pathology are also of pharmacogenetic interest. Patients with gout present with several comorbidities, warranting the use of several acute and long-term medications that increase their pill burden and the risk of adverse drug events. Implementing PGx testing can identify individuals who are more or less likely to benefit from a given treatment, improve medication adherence, and reduce pill burden. 
  • 1.4K
  • 18 May 2022
Topic Review
HNPP
Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles and sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure, such as the pressure that occurs when carrying heavy grocery bags, leaning on an elbow, or sitting without changing position, particularly with crossed legs. These activities would not normally cause sensation problems in people without the disorder.
  • 1.4K
  • 04 Jan 2021
Topic Review
Epigenetics in the Uterine Environment
The societal burden of non-communicable disease is closely linked with environmental exposures and lifestyle behaviours, including the adherence to a poor maternal diet from the earliest preimplantation period of the life course onwards. Epigenetic variations caused by a compromised maternal nutritional status can affect embryonic development and offspring health later in life.
  • 1.4K
  • 14 Jan 2022
Topic Review
DHH Gene
Desert Hedgehog
  • 1.4K
  • 24 Dec 2020
Topic Review
17q12 Deletion Syndrome
17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12.
  • 1.4K
  • 23 Dec 2020
Topic Review
Cells and DNA
Cells are the basic building blocks of all living things. The human body is composed of trillions of cells. They provide structure for the body, take in nutrients from food, convert those nutrients into energy, and carry out specialized functions. Cells also contain the body's hereditary material and can make copies of themselves. DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA). Mitochondria are structures within cells that convert the energy from food into a form that cells can use.
  • 1.4K
  • 24 Dec 2020
Topic Review
Genomic Research
Discovering the sequence of the human genome was a major goal of the Human Genome Project, completed in 2003. The next stage of genomic research will begin to derive meaningful knowledge from the DNA sequence. 
  • 1.4K
  • 24 Dec 2020
Topic Review
Chromosome 20
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 20, one copy inherited from each parent, form one of the pairs.
  • 1.4K
  • 24 Dec 2020
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.
  • 1.4K
  • 17 Aug 2023
Topic Review
HTT Gene
Huntingtin
  • 1.4K
  • 23 Dec 2020
Topic Review
STAC3 Disorder
STAC3 disorder (formerly known as Native American myopathy) is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement.
  • 1.4K
  • 24 Dec 2020
Topic Review
MAOA Gene
Monoamine oxidase A
  • 1.4K
  • 23 Dec 2020
Topic Review
ADNP Syndrome
ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterized by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of multiple body systems.  
  • 1.4K
  • 23 Dec 2020
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