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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.
  • 941
  • 24 Dec 2020
Topic Review
Mannose-Binding Lectin Deficiency
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.
  • 940
  • 23 Dec 2020
Topic Review
Hartnup Disease
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet.
  • 940
  • 23 Dec 2020
Topic Review
CACNA1C Gene
calcium voltage-gated channel subunit alpha1 C
  • 940
  • 24 Dec 2020
Topic Review
CDKN2A Gene
cyclin dependent kinase inhibitor 2A
  • 940
  • 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.
  • 940
  • 20 Jan 2021
Topic Review
Intranuclear Rod Myopathy
Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement.
  • 938
  • 23 Dec 2020
Topic Review
Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system.
  • 938
  • 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).
  • 938
  • 24 Dec 2020
Topic Review
Beta-Propeller Protein-Associated Neurodegeneration
Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease.
  • 938
  • 24 Dec 2020
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. 
  • 938
  • 19 May 2021
Topic Review
Norrie Disease
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.
  • 938
  • 24 Dec 2020
Topic Review
MT-ATP6 Gene
mitochondrially encoded ATP synthase membrane subunit 6
  • 937
  • 23 Dec 2020
Topic Review
Ohdo Syndrome, Maat-Kievit-Brunner Type
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
  • 937
  • 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.
  • 937
  • 24 Dec 2020
Topic Review
New Gene Origination in a Special Fish Lineage
Origin of new genes are of inherent interest of evolutionary geneticists for decades, but few studies have addressed general pattern of origin of new genes in a fish lineage. Flatfishes evolved one of the most specialized and asymmetric body plans in vertebrates. Providing recent released whole genome data that well represent ingroup and outgroup species, 1541 flatfish-lineage-specific genes were identified with the synteny-based pipeline. The origination pattern of these flatfish new genes is largely similar to those observed in other vertebrates, and they were mainly originated through DNA-mediated duplication, with some RNA-mediated duplication (retrogenes) or de novo genes.
  • 937
  • 25 Nov 2021
Topic Review
Spondylocarpotarsal Synostosis Syndrome
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).  
  • 936
  • 23 Dec 2020
Topic Review
Greenberg Dysplasia
Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.
  • 936
  • 23 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.
  • 936
  • 23 Dec 2020
Topic Review
EDA Gene
Ectodysplasin A: The EDA gene provides instructions for making a protein called ectodysplasin A. 
  • 936
  • 24 Dec 2020
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