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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.
  • 947
  • 24 Dec 2020
Topic Review
CACNA1C Gene
calcium voltage-gated channel subunit alpha1 C
  • 947
  • 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.
  • 946
  • 23 Dec 2020
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).  
  • 946
  • 23 Dec 2020
Topic Review
IKBKG Gene
Inhibitor of nuclear factor kappa B kinase subunit gamma
  • 946
  • 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.
  • 946
  • 23 Dec 2020
Topic Review
APOA1 Gene
apolipoprotein A1. The APOA1 gene provides instructions for making a protein called apolipoprotein A-I (apoA-I). 
  • 946
  • 24 Dec 2020
Topic Review
CDKN2A Gene
cyclin dependent kinase inhibitor 2A
  • 946
  • 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.
  • 946
  • 24 Dec 2020
Topic Review
Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system.
  • 945
  • 23 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.  
  • 945
  • 16 Jun 2022
Topic Review
MT-ATP6 Gene
mitochondrially encoded ATP synthase membrane subunit 6
  • 944
  • 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.
  • 944
  • 23 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.
  • 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
Cyclic Neutropenia
Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals.
  • 943
  • 24 Dec 2020
Topic Review
TERC Gene
Telomerase RNA component: The TERC gene provides instructions for making one component of an enzyme called telomerase. 
  • 943
  • 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.
  • 943
  • 25 Nov 2021
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.
  • 942
  • 24 Dec 2020
Topic Review
Pseudoachondroplasia
Pseudoachondroplasia is an inherited disorder of bone growth.
  • 942
  • 24 Dec 2020
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