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Topic Review
CACNA1C Gene
calcium voltage-gated channel subunit alpha1 C
  • 945
  • 24 Dec 2020
Topic Review
Dopamine Transporter Deficiency Syndrome
Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later.
  • 945
  • 24 Dec 2020
Topic Review
Mycobacterium tuberculosis and HIV-1: Evolution
This entry reviews the genetic evolution and adaptation to the host environment of M. tuberculosis and HIV-1. It provides an overview of the latest developments in the knowledge about the genetic diversity of these devastating intracellular human pathogens and its impact on the host immune system, virulence, drug resistance propensity and other relevant aspects. We also proposed a novel topic in the literature regarding the use of single cell "omics" to study the interacting evolutionary dynamics of M. tuberculosis and HIV-1 in co-infection, at the cellular niche of monocytes/macrophages.
  • 945
  • 20 Jan 2021
Topic Review
Sex Determination Cascade in Silkworm
In insects, sex determination pathways involve three levels of master regulators: primary signals, which determine the sex; executors, which control sex-specific differentiation of tissues and organs; and transducers, which link the primary signals to the executors. The primary signals differ widely among insect species. In Diptera alone, several unrelated primary sex determiners have been identified. However, the doublesex (dsx) gene is highly conserved as the executor component across multiple insect orders. The transducer level shows an intermediate level of conservation. In many, but not all examined insects, a key transducer role is performed by transformer (tra), which controls sex-specific splicing of dsx. In Lepidoptera, studies of sex determination have focused on the lepidopteran model species Bombyx mori (the silkworm). In B. mori, the primary signal of sex determination cascade starts from Fem, a female-specific PIWI-interacting RNA, and its targeting gene Masc, which is apparently specific to and conserved among Lepidoptera. Tra has not been found in Lepidoptera. Instead, the B. mori PSI protein binds directly to dsx pre-mRNA and regulates its alternative splicing to produce male- and female-specific transcripts. 
  • 945
  • 19 May 2021
Topic Review
Genetic Testing for Antipsychotic Pharmacotherapy
Genetic testing is increasingly utilized to identify genetic biomarkers for optimizing the efficacy and tolerability of psychotropic drugs, especially antidepressants. However, genetic testing is also being requested to enhance the effectiveness of antipsychotic drugs, which is especially true for the treatment-refractory schizophrenia population, who frequently experience irrational polypharmacy at high dosages with significant adverse effects, generally without much therapeutic benefit.
  • 945
  • 27 Jul 2021
Topic Review
SMA-PME
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).  
  • 944
  • 23 Dec 2020
Topic Review
MT-ATP6 Gene
mitochondrially encoded ATP synthase membrane subunit 6
  • 944
  • 23 Dec 2020
Topic Review
Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system.
  • 944
  • 23 Dec 2020
Topic Review
Weill-Marchesani Syndrome
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.
  • 944
  • 23 Dec 2020
Topic Review
APOA1 Gene
apolipoprotein A1. The APOA1 gene provides instructions for making a protein called apolipoprotein A-I (apoA-I). 
  • 944
  • 24 Dec 2020
Topic Review
CDKN2A Gene
cyclin dependent kinase inhibitor 2A
  • 944
  • 24 Dec 2020
Topic Review
Senior-Løken Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.
  • 944
  • 25 Dec 2020
Topic Review
Tuberous Sclerosis Complex
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body.
  • 943
  • 23 Dec 2020
Topic Review
Auriculo-condylar Syndrome
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).
  • 942
  • 24 Dec 2020
Topic Review
EDA Gene
Ectodysplasin A: The EDA gene provides instructions for making a protein called ectodysplasin A. 
  • 942
  • 24 Dec 2020
Topic Review
Peters Plus Syndrome
Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.
  • 942
  • 24 Dec 2020
Topic Review
Proteus Syndrome
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.
  • 942
  • 24 Dec 2020
Topic Review
Central Core Disease
Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from barely noticeable to very severe. The severity of muscle weakness may differ even among affected members of the same family.
  • 941
  • 24 Dec 2020
Topic Review
TERC Gene
Telomerase RNA component: The TERC gene provides instructions for making one component of an enzyme called telomerase. 
  • 941
  • 24 Dec 2020
Topic Review
Humans and the Olfactory Environment
The sense of smell is underappreciated. Though less crucial than sight or hearing, it tells about what people neither see nor hear. It also enriches sight and hearing with biochemical data on objects of interest. Finally, by producing disgust or pleasure, it helps decide whether such objects should be avoided or approached. Humans have remade their olfactory environment, typically by making it more pleasant-smelling, just as they have remade their visual environment to make it more pleasant-looking. But the process has not been one-way. By remaking the environment, people have ended up remaking ourselves. On the one hand, humans have been creating more and more of their world; on the other hand, this human-created world has been modifying their genomes via natural selection.  
  • 941
  • 16 Jun 2022
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