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Topic Review
LIPA Gene
Lipase A, lysosomal acid type
  • 915
  • 23 Dec 2020
Topic Review
XPC Gene
XPC complex subunit, DNA damage recognition and repair factor: the XPC gene provides instructions for making a protein that is involved in repairing damaged DNA. 
  • 915
  • 24 Dec 2020
Topic Review
Beta-Mannosidosis
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
  • 915
  • 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.
  • 915
  • 25 Dec 2020
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. 
  • 915
  • 20 Aug 2021
Topic Review
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
TBX1, located on chromosome 22q11.21, encodes a T-box transcription factor and is a candidate gene for DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). Studies of Tbx1-mutant mice have provided insights into the underlying pathogenesis of DGS/VCFS and the knowledge to diagnose patients with DGS/VCFS. Genes, miRNAs, and epigenetics could change Tbx1 expression. Polymorphisms, variations, and mutations in TBX1 may induce the penetrance and severity of DGS/VCFS-like craniofacial phenotypes. The molecular basis of the variant sequence of TBX1 will further define how TBX1 contributes to the craniofacial and other phenotypes of DGS/VCFS. Since interactions with TBX1 and other molecules in transcriptional complexes or chromatin remodeling are crucial for TBX1 function, identifying and understanding these genetic and epigenetic modifiers individually for each patient may direct therapeutics to minimize the severity.
  • 915
  • 27 May 2022
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.
  • 915
  • 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.
  • 913
  • 23 Dec 2020
Topic Review
NSD2 Gene
nuclear receptor binding SET domain protein 2
  • 913
  • 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.
  • 913
  • 24 Dec 2020
Topic Review
Dopa-responsive Dystonia
Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa.
  • 913
  • 24 Dec 2020
Topic Review
Electrocochleography in Auditory Neuropathy
Auditory Neuropathy (AN) is characterized by disruption of temporal coding of acoustic signals in auditory nerve fibers resulting in alterations of auditory perceptions. Mutations in several genes have been associated to the most forms of AN. Underlying mechanisms include both pre-synaptic and post-synaptic damage involving inner hair cell (IHC) depolarization, neurotransmitter release, spike initiation in auditory nerve terminals, loss of auditory fibers and impaired conduction. In contrast, outer hair cell (OHC) activities (otoacoustic emissions [OAEs] and cochlear microphonic [CM]) are normal. Disordered synchrony of auditory nerve activity has been suggested as the basis of both the alterations of auditory brainstem responses (ABRs) and reduction of speech perception. Authors will review how electrocochleography (ECochG) recordings provide detailed information to help objectively define the sites of auditory neural dysfunction and their effect on receptor summating potential (SP) and neural compound action potential (CAP), the latter reflecting disorders of ribbon synapses and auditory nerve fibers.
  • 913
  • 30 Jan 2022
Topic Review
POMC Gene
proopiomelanocortin
  • 913
  • 25 Dec 2020
Topic Review
KMT2D Gene
Lysine methyltransferase 2D
  • 912
  • 23 Dec 2020
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.
  • 912
  • 24 Dec 2020
Topic Review
NR3C2 Gene
nuclear receptor subfamily 3 group C member 2
  • 912
  • 24 Dec 2020
Topic Review
Glycerol Kinase Deficiency
Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research branch classifies GKD as a rare disease, known to affect fewer than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita. Combinations of these three genetic defects including GKD are addressed medically as Complex GKD.
  • 912
  • 19 Oct 2022
Topic Review
Combined Pituitary Hormone Deficiency
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.
  • 911
  • 24 Dec 2020
Topic Review
CHRNA2 Gene
cholinergic receptor nicotinic alpha 2 subunit
  • 911
  • 24 Dec 2020
Topic Review
SDHD Gene
succinate dehydrogenase complex subunit D
  • 911
  • 24 Dec 2020
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