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Topic Review
Noonan Syndrome with Multiple Lentigines
Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and short stature. These features vary, however, even among affected individuals in the same family. Not all individuals with Noonan syndrome with multiple lentigines have all the characteristic features of this condition.
  • 691
  • 24 Dec 2020
Topic Review
PDGFRA-Associated Chronic Eosinophilic Leukemia
PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.
  • 691
  • 24 Dec 2020
Topic Review
CLN10 Disease
CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals also have seizures before birth while in the womb. Infants with CLN10 disease have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement (the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes efficient transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth.
  • 691
  • 24 Dec 2020
Topic Review
Aloysia Citrodora Essential Oil
Patients diagnosed with melanoma have a poor prognosis due to regional invasion and metastases. The receptor tyrosine kinase epidermal growth factor receptor (EGFR) is found in a subtype of melanoma with a poor prognosis and contributes to drug resistance. Aloysia citrodora essential oil (ALOC-EO) possesses an antitumor effect. Understanding signaling pathways that contribute to the antitumor of ALOC-EO is important to identify novel tumor types that can be targeted by ALOC-EO. 
  • 691
  • 20 Aug 2021
Topic Review
Neurofibromatosis Type 2
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system.
  • 691
  • 23 Dec 2020
Topic Review
PURA Gene
purine rich element binding protein A
  • 690
  • 23 Dec 2020
Topic Review
SLC26A2 Gene
solute carrier family 26 member 2
  • 690
  • 04 Apr 2021
Topic Review
Transcription–Replication Coordination
Transcription and replication are the two most essential processes that a cell does with its DNA: they allow cells to express the genomic content that is required for their functions and to create a perfect copy of this genomic information to pass on to the daughter cells. Nevertheless, these two processes are in a constant ambivalent relationship. When transcription and replication occupy the same regions, there is the possibility of conflicts between transcription and replication as transcription can impair DNA replication progression leading to increased DNA damage. Nevertheless, DNA replication origins are preferentially located in open chromatin next to actively transcribed regions, meaning that the possibility of conflicts is potentially an accepted incident for cells. Data in the literature point both towards the existence or not of coordination between these two processes to avoid the danger of collisions.
  • 690
  • 27 Jan 2022
Topic Review
Hereditary Antithrombin Deficiency
Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT).
  • 689
  • 23 Dec 2020
Topic Review
NLRP1 Gene
NLR family pyrin domain containing 1
  • 689
  • 23 Dec 2020
Topic Review
Nonketotic Hyperglycinemia
Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems.
  • 689
  • 24 Dec 2020
Topic Review
CACNA1D Gene
calcium voltage-gated channel subunit alpha1 D
  • 689
  • 24 Dec 2020
Topic Review
KCNQ3 Gene
Potassium voltage-gated channel subfamily Q member 3
  • 688
  • 23 Dec 2020
Topic Review
LMNB1 Gene
Lamin B1
  • 688
  • 23 Dec 2020
Topic Review
HFE Gene
Homeostatic iron regulator
  • 687
  • 22 Dec 2020
Topic Review
Hyperphosphatemic Familial Tumoral Calcinosis
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues.
  • 687
  • 23 Dec 2020
Topic Review
WDR35 Gene
WD repeat domain 35.
  • 687
  • 24 Dec 2020
Topic Review
RFX5 Gene
regulatory factor X5
  • 687
  • 24 Dec 2020
Topic Review
HADH Gene
Hydroxyacyl-CoA dehydrogenase
  • 686
  • 22 Dec 2020
Topic Review
HLA-B Gene
Major histocompatibility complex, class I, B
  • 686
  • 22 Dec 2020
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