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Topic Review
FKBP14 Gene
FKBP prolyl isomerase 14: The FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). 
  • 740
  • 25 Dec 2020
Topic Review
MITF Gene
melanocyte inducing transcription factor
  • 739
  • 22 Dec 2020
Topic Review
NPHS1 Gene
NPHS1, nephrin
  • 739
  • 24 Dec 2020
Topic Review
Hereditary Cerebral Amyloid Angiopathy
Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood.
  • 738
  • 23 Dec 2020
Topic Review
Hypermanganesemia with Dystonia
Hypermanganesemia with dystonia is an inherited disorder in which excessive amounts of the element manganese accumulate in the body (hypermanganesemia).
  • 738
  • 23 Dec 2020
Topic Review
ITGA6 Gene
Integrin subunit alpha 6
  • 738
  • 23 Dec 2020
Topic Review
MECP2-Related Severe Neonatal Encephalopathy
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy).
  • 738
  • 24 Dec 2020
Topic Review
Limb-Girdle Muscular Dystrophy
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.
  • 738
  • 24 Dec 2020
Topic Review
ANOS1 Gene
anosmin 1
  • 738
  • 24 Dec 2020
Topic Review
CACNB4 Gene
calcium voltage-gated channel auxiliary subunit beta 4
  • 738
  • 24 Dec 2020
Topic Review
CLN2 Disease
CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.
  • 738
  • 24 Dec 2020
Topic Review
Dyserythropoietic Anemia and Thrombocytopenia
Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells.
  • 738
  • 24 Dec 2020
Topic Review
Patatin-like Phospholipase Domain-Containing Protein 6
Patatin-like phospholipase domain-containing protein 6 (PNPLA6), originally called Neuropathy Target Esterase (NTE), belongs to a family of hydrolases with at least eight members in mammals. PNPLA6/NTE was first identified as a key factor in Organophosphate-induced delayed neuropathy, a degenerative syndrome that occurs after exposure to organophosphates found in pesticides and nerve agents. More recently, mutations in PNPLA6/NTE have been linked with a number of inherited diseases with diverse clinical symptoms that include spastic paraplegia, ataxia, and chorioretinal dystrophy. A conditional knockout of PNPLA6/NTE in the mouse brain results in age-related neurodegeneration, whereas a complete knockout causes lethality during embryogenesis due to defects in the development of the placenta. PNPLA6/NTE is an evolutionarily conserved protein that in Drosophila is called Swiss-Cheese (SWS). Loss of SWS in the fly also leads to locomotory defects and neuronal degeneration that progressively worsen with age. 
  • 738
  • 01 Apr 2022
Topic Review
Pathogenesis and Therapeutics for Huntington’s Disease
Huntington’s disease (HD) is a debilitating neurodegenerative genetic disorder caused by an expanded polyglutamine-coding (CAG) trinucleotide repeat in the huntingtin (HTT) gene. HD behaves as a highly penetrant dominant disorder likely acting through a toxic gain of function by the mutant huntingtin protein. Widespread cellular degeneration of the medium spiny neurons of the caudate nucleus and putamen are responsible for the onset of symptomology that encompasses motor, cognitive, and behavioural abnormalities. 
  • 738
  • 06 Sep 2023
Topic Review
Juvenile Myoclonic Epilepsy
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 737
  • 23 Dec 2020
Topic Review
ALG6-congenital Disorder of Glycosylation
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition.
  • 737
  • 23 Dec 2020
Topic Review
Cerebral Folate Transport Deficiency
Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain.
  • 737
  • 24 Dec 2020
Topic Review
Rhabdoid Tumor Predisposition Syndrome
Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors.
  • 737
  • 24 Dec 2020
Topic Review
CLN3 Disease
CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.
  • 737
  • 24 Dec 2020
Topic Review
Pearson Marrow-Pancreas Syndrome
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy.
  • 737
  • 24 Dec 2020
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