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Topic Review
SERPINA1 Gene
serpin family A member 1
  • 953
  • 24 Dec 2020
Topic Review
Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others.
  • 953
  • 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.
  • 953
  • 24 Dec 2020
Topic Review
OPN1SW Gene
opsin 1, short wave sensitive
  • 953
  • 24 Dec 2020
Topic Review
Expression and Regulation of INPP5D in  Alzheimer’s Disease
Alzheimer’s disease (AD) is the most common form of dementia, accounting for approximately 38.5 million cases of all-cause dementia. Microglial cells, the innate immune cells of the central nervous system (CNS), have long been established as guardians of the brain by providing neuroprotection and maintaining cellular homeostasis. A protein with a myriad of effects on various important signaling pathways that is expressed in microglia is the Src Homology 2 (SH2) domain-containing Inositol 5′ Phosphatase 1 (SHIP1) protein. Encoded by the INPP5D (Inositol Polyphosphate-5-Phosphatase D) gene, SHIP1 has diminutive effects on most microglia signaling processes. Polymorphisms of the INPP5D gene have been found to be associated with a significantly increased risk of AD.
  • 953
  • 09 Oct 2023
Topic Review
Sialic Acid Storage Disease
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system.
  • 953
  • 25 Dec 2020
Topic Review
Chloroplast DNA Barcodes
DNA barcodes are standardized sequences, ideally unique, coding or non-coding, either from the genome of the organism or from its organelles, that are used to identify/classify an organismal group; in short, the method includes amplification of the DNA barcode, sequencing and comparison with a reference database containing the relevant sequences from different species. In plants, the use a universal DNA barcode, such as COI, which is used in animals, has not been achieved so far. 
  • 953
  • 19 Feb 2024
Topic Review
BRAF
B-Raf proto-oncogene, serine/threonine kinase
  • 952
  • 24 Dec 2020
Topic Review
TERC Gene
Telomerase RNA component: The TERC gene provides instructions for making one component of an enzyme called telomerase. 
  • 952
  • 24 Dec 2020
Topic Review
UNC80 Deficiency
UNC80 deficiency is a severe disorder characterized by nervous system and developmental problems that are apparent from birth or early infancy. The disorder does not typically get worse over time; development of intellectual function and motor skills, such as rolling over and sitting, is slow and limited, but once skills are learned, they are usually retained.  
  • 951
  • 23 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.
  • 951
  • 24 Dec 2020
Topic Review
Cyclic Neutropenia
Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals.
  • 951
  • 24 Dec 2020
Topic Review
Familial Hypercholesterolemia
Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of extra cholesterol, and it builds up in the blood. Too much cholesterol increases a person's risk of developing heart disease.
  • 950
  • 25 Dec 2020
Topic Review
GLB1 Gene
Galactosidase beta 1
  • 950
  • 25 Dec 2020
Topic Review
AGTR1 Gene
angiotensin II receptor type 1
  • 949
  • 24 Dec 2020
Topic Review
MMAA Gene
metabolism of cobalamin associated A
  • 948
  • 22 Dec 2020
Topic Review
LEMD3 Gene
LEM domain containing 3
  • 948
  • 23 Dec 2020
Topic Review
PMP22 Gene
peripheral myelin protein 22
  • 948
  • 25 Dec 2020
Topic Review
DNA Methylation in Neurodegenerative Diseases
DNA methylation is critical for the normal development and functioning of the human brain, such as the proliferation and differentiation of neural stem cells, synaptic plasticity, neuronal reparation, learning, and memory. Despite the physical stability of DNA and methylated DNA compared to other epigenetic modifications, some DNA methylation-based biomarkers have translated into clinical practice. Increasing reports indicate a strong association between DNA methylation profiles and various clinical outcomes in neurological diseases, such as neurodegenerative diseases.
  • 948
  • 15 Nov 2022
Topic Review
Lenz Microphthalmia Syndrome
Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.
  • 947
  • 23 Dec 2020
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