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Topic Review
MCPIP1
MCPIP1 (also known as regnase-1) is encoded by the ZC3H12A gene and is composed of 599 amino acids that encode a 66-kDa protein. MCPIP1 is a potent anti-inflammatory protein, and plays many roles within the regulation of the immune response.
  • 1.1K
  • 22 Oct 2020
Topic Review
Hypertension
Hypertension is abnormally high blood pressure in the arteries, which are the blood vessels that carry blood from the heart to the rest of the body. As the heart beats, it forces blood through the arteries to deliver nutrients and oxygen to the rest of the body. The strength of the blood pushing against the artery walls is blood pressure, which is measured in units called millimeters of mercury (mmHg). The top number in a blood pressure reading is the pressure when the heart pumps (systolic blood pressure), and the bottom number is the pressure between heart beats (diastolic blood pressure). In adults, a normal blood pressure measurement is about 120/80 mmHg. Blood pressure is considered high when the measurement is 130/80 mmHg or greater.
  • 1.1K
  • 16 Jan 2022
Topic Review
DOORS Syndrome
DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.
  • 1.1K
  • 24 Dec 2020
Topic Review
C-to-U RNA Editing
The restoration of genetic code by editing mutated genes is a potential method for the treatment of genetic diseases/disorders. Genetic disorders are caused by the point mutations of thymine (T) to cytidine (C) or guanosine (G) to adenine (A), for which gene editing (editing of mutated genes) is a promising therapeutic technique. In C-to-Uridine (U) RNA editing, it converts the base C-to-U in RNA molecules and leads to nonsynonymous changes when occurring in coding regions; for G-to-A mutations, A-to-I editing occurs. Editing of C-to-U is not as physiologically common as that of A-to-I editing.
  • 1.1K
  • 30 Sep 2022
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.
  • 1.1K
  • 24 Dec 2020
Topic Review
Molecular Markers
Fungi are amongst the most abundant and diverse organisms. Despite being widely known for their adverse role in food spoilage or as pathogens for humans, animals, or plants, they also present several beneficial effects. Fungi contribute to human well-being due to their role as decomposers, degrading decay matter into smaller molecules which can be easily used by other ecosystem members. These organisms can produce medicinal compounds or modulate protective immune responses in human intestine. Fungi intervene in diverse food processes or act as a food supply. Due to fungal diversity, the unequivocal identification of these organisms is crucial to increasing their practical applications and decreasing their adverse effects.
  • 1.1K
  • 02 Aug 2022
Topic Review
Partington Syndrome
Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.
  • 1.1K
  • 17 Jun 2021
Topic Review
Tumor Suppressor
A tumor suppressor gene, or anti-oncogene, is a gene that regulates a cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results in a loss or reduction in its function; in combination with other genetic mutations this could allow the cell to grow abnormally. The loss of function for these genes may be even more significant in the development of human cancers, compared to the activation of oncogenes. Tumor suppressor genes can be grouped into the following categories caretaker genes, gatekeeper genes, and more recently landscaper genes. Caretaker genes ensure stability of the genome via DNA repair and subsequently when mutated allow mutations to accumulate. Meanwhile gatekeeper genes directly regulate cell growth by either inhibiting cell cycle progression or inducing apoptosis. Lastly landscaper genes regulate growth by contributing to the surrounding environment, when mutated can cause an environment that promotes unregulated proliferation. The classification schemes are evolving as medical advances are being made from fields including molecular biology, genetics, and epigenetics.
  • 1.1K
  • 25 Oct 2022
Topic Review
FENIB
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy).
  • 1.1K
  • 04 Jan 2021
Topic Review
White-Sutton Syndrome
White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. However, in White-Sutton syndrome these features can occur along with other characteristics that are unusual in people with ASD, such as an overly friendly demeanor.
  • 1.1K
  • 23 Dec 2020
Topic Review
COL1A1 Gene
collagen type I alpha 1 chain
  • 1.1K
  • 24 Dec 2020
Topic Review
Iron Assimilation
Iron is a key transition metal required by most microorganisms and is prominently utilised in the transfer of electrons during metabolic reactions. The acquisition of iron is essential and becomes a crucial pathogenic event for opportunistic fungi. Iron is not readily available in the natural environment as it exists in its insoluble ferric form, i.e., in oxides and hydroxides. During infection, the host iron is bound to proteins such as transferrin, ferritin, and haemoglobin. As such, access to iron is one of the major hurdles that fungal pathogens must overcome in an immunocompromised host. Thus, these opportunistic fungi utilise three major iron acquisition systems to overcome this limiting factor for growth and proliferation. (Draft for definition)
  • 1.0K
  • 09 Dec 2020
Topic Review
Saul-Wilson Syndrome
Saul-Wilson syndrome is characterized by short stature (dwarfism) and other skeletal abnormalities.
  • 1.0K
  • 24 Dec 2020
Topic Review
CHD8 and Autism Spectrum Disorder
Autism spectrum disorder (ASD) encompasses a spectrum of early-onset neurodevelopmental disorders with an estimated prevalence of ~1.5% in developed countries. Patients present early deficits in social interaction and communication, repetitive patterns of behavior, and restricted interests and activities.Chromodomain helicase domain 8 (CHD8) is one of the most frequently mutated and most penetrant genes in the autism spectrum disorder (ASD). Individuals with CHD8 mutations show leading symptoms of autism, macrocephaly, and facial dysmorphisms. The molecular and cellular mechanisms underpinning the early onset and development of these symptoms are still poorly understood and prevent timely and more efficient therapies of patients.
  • 1.0K
  • 11 Oct 2021
Topic Review
Type 1 Diabetes
Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood.
  • 1.0K
  • 04 Jan 2021
Topic Review
DHH Gene
Desert Hedgehog
  • 1.0K
  • 24 Dec 2020
Topic Review
MiRNA-Mediated Epigenetic Mechanisms
This entry discuss the role of ncRNAs as mediators of epigenetic pathways associated with carcinogenesis, and provides an overview on how deregulated microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) alter the expression of cancer-promoting genes.  Overall, miss regulated expression of ncRNAs alter cell cycle progression and apoptosis to increase proliferation, thereby facilitating cellular transformation into malignancies. The potential for using ncRNAs as targets for early prognosis and for developing cancer therapies is discussed.
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  • 16 Dec 2020
Topic Review
Myostatin Gene Polymorphisms with Strength Phenotype of Athletes
Polymorphism (rs1805086), c.458A>G, p.Lys(K)153Arg(R), (K153R) of the myostatin gene (MSTN) has been associated with a skeletal muscle phenotype (hypertrophic response in muscles due to strength training). The K153R polymorphism is significant in the development of muscle mass and strength. The rare R variant increases the inhibition of MSTN synthesis, thereby leading to an increase in skeletal muscle mass and muscle strength. The R variant is favorable for sports in which muscle strength and mass are important, such as bodybuilding, powerlifting, weightlifting, arm wrestling, kettlebell lifting, shot put, and bobsleigh. It can be assumed that the strong effect of this allele on the ability to become a successful athlete in weightlifting and speed-power sports is based on the inhibition of MSTN synthesis. 
  • 1.0K
  • 01 Feb 2023
Topic Review
EFFECT OF SURJECTION ON INHERITANCE, Second Edition
Abstract:  This is Third Edition: Consider an evolutionary process. In most genetic inheritance and in human cultural systems each new offspring is typically assigned to be produced by a specific pair of the previous population. This form of mathematical arrangement is called a surjection. We have thus briefly described the mechanics of genetics – physical mechanics describes the possible forms of loci, and normal genetic statistics describe the results as viability of offspring in actual use. But we have also described much of the mechanics of mathematical anthropology. Understanding that what we know as cultural inheritance is also the result of finding surjections and their consequences, especially in cultures for the expected populations. The review below shows us that in describing evolution, two sorts of statistics are required: those that follow specific inheritance of actual surviving individuals from specific matings, and those which follow population averages on a larger classes of individuals.  The underlying probabilities of each in a population, given the underlying surjections, is that the mathematics of these probabilities can be understood by finite Hilbert spaces.   This does not mean “quantum mechanics” predicts both biological and cultural evolution, thought citations below shows that quantum physics is in fact responsible for the underling group theory that creates biological evolution.  We especially note the brilliant work of L. Gatlin in the 1960’s describing how biological evolution is a necessary part of physics. The parallels to cultural evolution are instead in the relation to how mathematical group theory can affect the potential structuring of subsequent generations.
  • 1.0K
  • 26 Oct 2020
Topic Review
KMT2A (Lysine Methyltransferase 2A)
KMT2A (Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. KMT2A has a crucial role in gene expression, thus it is associated to pathological conditions when found mutated. KMT2A germinal mutations are associated to Wiedemann–Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i.e., Coffin–Siris syndromes, Kabuki syndrome, Cornelia De Lange syndrome, Rubinstein–Taybi syndrome), sharing an overlapping phenotype. On the other hand, KMT2A somatic mutations have been reported in several tumors, mainly blood malignancies. Due to its evolutionary conservation, the role of KMT2A in embryonic development, hematopoiesis and neurodevelopment has been explored in different animal models, and epigenetic treatments for disorders linked to KMT2A dysfunction have been extensively investigated. 
  • 1.0K
  • 06 Apr 2022
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