Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
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
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
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
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
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
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
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
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.
  • 1.4K
  • 24 Dec 2020
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
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.  
  • 1.4K
  • 24 Dec 2020
Topic Review
Nuclear Envelope Integrity in Health and Disease
The dynamic nature of the nuclear envelope (NE) is often underestimated. The NE morphology is characterized by a wide range of diversity and abnormality such as invagination and blebbing, and it is a diagnostic factor for pathologies such as cancer.
  • 1.4K
  • 15 Feb 2022
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
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
SAVI
STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs.
  • 1.4K
  • 24 Dec 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.
  • 1.4K
  • 07 Apr 2022
Topic Review
CED9 (Gene)
Cell death abnormality gene 9 (CED-9), also known as apoptosis regulator CED-9, is a gene found in Caenorhabditis elegans that inhibits/represses programmed cell death (apoptosis). The gene was discovered while searching for mutations in the apoptotic pathway after the discovery of the apoptosis promoting genes CED-3 and CED-4. The gene gives rise to the apoptosis regulator CED-9 protein found as an Integral membrane protein in the mitochondrial membrane. The protein is homologous to the human apoptotic regulator Bcl-2 as well as all other proteins in the Bcl-2 protein family. CED-9 is involved in the inhibition of CED-4 which is the activator of the CED-3 caspase. Because of the pathway homology with humans as well as the specific protein homology, CED-9 has been used to represent the human cell apoptosis interactions of Bcl-2 in research.
  • 1.4K
  • 29 Nov 2022
Topic Review
EGFR Gene
Epidermal growth factor receptor
  • 1.4K
  • 04 Jan 2021
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
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback

Quick Survey

Encyclopedia MDPI is conducting a targeted survey to identify the specific barriers hindering efficient research. We invite you to spend 3 minutes defining the priorities for our next generation of structured knowledge tools.
Take Survey