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Topic Review
MT-CYB Gene
mitochondrially encoded cytochrome b
  • 1.2K
  • 23 Dec 2020
Topic Review
Hypophosphatasia
Hypophosphatasia is an inherited disorder that affects the development of bones and teeth.
  • 1.2K
  • 23 Dec 2020
Topic Review
Structure and Function of UHRF1
Cancer is one of the leading causes of death worldwide, and its incidence and mortality are increasing each year. Improved therapeutic strategies against cancer have progressed, but remain insufficient to invert this trend. Along with several other risk factors, abnormal genetic and epigenetic regulations play a critical role in the initiation of cellular transformation, as well as tumorigenesis. The epigenetic regulator UHRF1 (ubiquitin-like, containing PHD and RING finger domains 1) is a multidomain protein with oncogenic abilities overexpressed in most cancers. Through the coordination of its multiple domains and other epigenetic key players, UHRF1 regulates DNA methylation and histone modifications. This well-coordinated dialogue leads to the silencing of tumor-suppressor genes (TSGs) and facilitates tumor cells’ resistance toward anticancer drugs, ultimately promoting apoptosis escape and uncontrolled proliferation. Several studies have shown that the downregulation of UHRF1 with natural compounds in tumor cells induces the reactivation of various TSGs, inhibits cell growth, and promotes apoptosis.
  • 1.2K
  • 24 Aug 2023
Topic Review
Apomixis Sensu Stricto
Apomixis may now be regarded as a consequence of sexual failure (i.e., loss-of-function) rather than as a recipe for clonal success (i.e., gain-of-function). There is increasing evidence that apomixis is a modification of the normal sexual developmental pathway. Most of the events that characterize sexual reproduction may be retained both structurally and functionally in apomictic reproduction, with the exceptions that the reduced egg cell is replaced by an unreduced egg cell, with absent or modified meiosis (i.e., apomeiosis), and the seed development does occur without egg cell fertilization (i.e., parthenogenesis). In addition, it is clear that residual sexual function is retained in pseudogamous apomixis, as seed development may occur without fertilization of either the egg cell or the central cell (i.e., autonomous apomixis), but fertilization may be required to form the endosperm in many apomictic plants.
  • 1.2K
  • 26 Oct 2020
Topic Review
Epigenetics
Changes in gene expression/phenotype without underlying DNA modification.
  • 1.2K
  • 21 Dec 2020
Topic Review
PTCH1 Gene
patched 1
  • 1.2K
  • 23 Dec 2020
Topic Review
FFEVF
Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families.
  • 1.2K
  • 04 Jan 2021
Topic Review
ERAP1 Gene
Endoplasmic reticulum aminopeptidase 1
  • 1.2K
  • 29 Dec 2020
Topic Review
AVP Gene
Arginine vasopressin
  • 1.2K
  • 04 Jan 2021
Topic Review
Spastic Paraplegia Type 2
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form.  
  • 1.2K
  • 23 Dec 2020
Topic Review
LAMA2-Related Muscular Dystrophy
LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.
  • 1.2K
  • 23 Dec 2020
Topic Review
Childhood Myocerebrohepatopathy Spectrum
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders.
  • 1.2K
  • 24 Dec 2020
Topic Review
CHST3-Related Skeletal Dysplasia
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals.
  • 1.2K
  • 24 Dec 2020
Topic Review
Neuroblastoma
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.
  • 1.2K
  • 04 Jan 2021
Topic Review
Next-Generation Sequencing in Neurogenetic Diseases
A wide variety of neurogenetic diseases have been discovered owing to the development of next-generation sequencing (NGS) technology. The clinical application of NGS significantly accelerated the discovery of disease-causing genes and promoted the understanding of molecular genetic mechanisms associated with hereditary diseases. 
  • 1.2K
  • 18 Jun 2021
Topic Review
Cherubism
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.
  • 1.2K
  • 24 Dec 2020
Topic Review
Chromosome 17
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
Bradykinin Hypothesis
Bradykinin (BK) (Greek brady-, slow; -kinin, kīn(eîn) to move) is a peptide that promotes inflammation. It causes arterioles to dilate (enlarge) via the release of prostacyclin, nitric oxide, and endothelium-derived hyperpolarizing factor and makes veins constrict, via prostaglandin F2, thereby leading to leakage into capillary beds, due to the increased pressure in the capillaries. Bradykinin is a physiologically and pharmacologically active peptide of the kinin group of proteins, consisting of nine amino acids. A class of drugs called angiotensin converting enzyme inhibitors (ACE inhibitors) increase bradykinin levels by inhibiting its degradation, thereby increasing its blood pressure lowering effect. ACE inhibitors are FDA approved for the treatment of hypertension and heart failure.
  • 1.2K
  • 14 Oct 2022
Topic Review
LMNA Gene
Lamin A/C
  • 1.2K
  • 23 Dec 2020
Topic Review
Carbonic Anhydrase VA Deficiency
Carbonic anhydrase VA deficiency is an inherited disorder characterized by episodes during which the balance of certain substances in the body is disrupted (known as metabolic crisis) and brain function is abnormal (known as acute encephalopathy). These potentially life-threatening episodes can cause poor feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing (tachypnea), seizures, or coma.
  • 1.2K
  • 24 Dec 2020
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