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Topic Review
DHH Gene
Desert Hedgehog
  • 1.4K
  • 24 Dec 2020
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
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
Ras Proteins
Ras proteins are essential mediators of a multitude of cellular processes, and its deregulation is frequently associated with cancer appearance, progression, and metastasis. Ras-driven cancers are usually aggressive and difficult to treat. Although the recent Food and Drug Administration (FDA) approval of the first Ras G12C inhibitor is an important milestone, only a small percentage of patients will benefit from it.
  • 1.4K
  • 10 Sep 2021
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
HTT Gene
Huntingtin
  • 1.4K
  • 23 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
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
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
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
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
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
BPES
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.
  • 1.4K
  • 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.
  • 1.4K
  • 22 Jul 2022
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
Topic Review
Breast Cancer
Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor.
  • 1.4K
  • 31 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
Coloboma
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.
  • 1.4K
  • 24 Dec 2020
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