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Topic Review
LINC00493/SMIM26 and Its Dual Functioning
In the present study, we investigate the widely expressed lncRNA LINC00493. We determine the structure of the LINC00493 transcript, its cell localization and influence on cell physiology. Our data demonstrate that LINC00493 has an influence on cell viability in a cell-type-specific manner. Furthermore, it was recently shown that LINC00493 has a sORF that is translated into small protein SMIM26. The results of our knockdown and overexpression experiments suggest that both LINC00493/SMIM26 transcript and protein affect cell viability, but in the opposite manner. 
  • 911
  • 20 Aug 2021
Topic Review
NSD2 Gene
nuclear receptor binding SET domain protein 2
  • 910
  • 24 Dec 2020
Topic Review
PABPN1 Gene
poly(A) binding protein nuclear 1
  • 910
  • 24 Dec 2020
Topic Review
Genetics for Obesity Prevention and Treatment
Obesity is a common, serious, and costly disease. Obesity-related conditions include heart disease, stroke, type 2 diabetes, and certain types of cancer. These are among the leading causes of preventable, premature death. Obesity is considered the result of a complex interaction between genes and the environment. Both genes and the environment change in different populations. Expression of these genes involves different epigenetic processes, such as DNA methylation, histone modification, or non-coding micro-RNA synthesis, as well as variations in the gene sequence, which results in functional alterations.
  • 910
  • 20 Jun 2023
Topic Review
5q31.3 Microdeletion Syndrome
5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
  • 909
  • 23 Dec 2020
Topic Review
KMT2D Gene
Lysine methyltransferase 2D
  • 909
  • 23 Dec 2020
Topic Review
BDNF Gene
brain derived neurotrophic factor
  • 909
  • 24 Dec 2020
Topic Review
SDHD Gene
succinate dehydrogenase complex subunit D
  • 909
  • 24 Dec 2020
Topic Review
Restless Legs Syndrome
Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, often described as crawling, pulling, or itching, deep within both legs. The feelings usually occur while the affected person is sitting or lying down and are worse at night. Movement, such as kicking, stretching, rubbing, or pacing, make the discomfort go away, at least temporarily. The unpleasant feelings and the resulting need to move the legs often make it difficult for an affected person to fall asleep or stay asleep.
  • 909
  • 04 Jan 2021
Topic Review
Desmosterolosis
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.
  • 908
  • 24 Dec 2020
Topic Review
Pontocerebellar Hypoplasia
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.
  • 908
  • 24 Dec 2020
Topic Review
POMC Gene
proopiomelanocortin
  • 908
  • 25 Dec 2020
Topic Review
CHRNA2 Gene
cholinergic receptor nicotinic alpha 2 subunit
  • 907
  • 24 Dec 2020
Topic Review
Diastrophic Dysplasia
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs.
  • 907
  • 24 Dec 2020
Topic Review
Familial Cold Autoinflammatory Syndrome
Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.
  • 907
  • 25 Dec 2020
Topic Review
Attention-Deficit/Hyperactivity Disorder
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.
  • 907
  • 31 Dec 2020
Topic Review
Genome/Gene Editing
Theoretically, a DNA sequence-specific recognition protein that can distinguish a DNA sequence equal to or more than 16 bp could be unique to mammalian genomes. Long-sequence-specific nucleases, such as naturally occurring Homing Endonucleases and artificially engineered ZFN, TALEN, and Cas9-sgRNA, have been developed and widely applied in genome editing.
  • 907
  • 28 Sep 2021
Topic Review
GDF3 Gene
Growth differentiation factor 3
  • 906
  • 25 Dec 2020
Topic Review
21-hydroxylase deficiency
21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 905
  • 23 Dec 2020
Topic Review
DSPP Gene
Dentin Sialophosphoprotein: The DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. 
  • 905
  • 24 Dec 2020
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