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Topic Review
OFD1 Gene
OFD1, centriole and centriolar satellite protein
  • 759
  • 24 Dec 2020
Topic Review
ACAD9 Deficiency
ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.
  • 758
  • 23 Dec 2020
Topic Review
KCNJ2 Gene
Potassium voltage-gated channel subfamily J member 2
  • 758
  • 23 Dec 2020
Topic Review
Donnai-Barrow Syndrome
Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.
  • 758
  • 24 Dec 2020
Topic Review
SRCAP Gene
Snf2 related CREBBP activator protein
  • 757
  • 22 Dec 2020
Topic Review
NcRNAs/Splicing Activity in TGCTs
Testicular germ cell tumors (TGCTs) are the most common tumors in adolescent and young men. Recently, genome-wide studies have made it possible to progress in understanding the molecular mechanisms underlying the development of tumors. It is becoming increasingly clear that aberrant regulation of RNA metabolism can drive tumorigenesis and influence chemotherapeutic response. Notably, the expression of non-coding RNAs as well as specific splice variants is deeply deregulated in human cancers. Since these cancer-related RNA species are considered promising diagnostic, prognostic and therapeutic targets, understanding their function in cancer development is becoming a major challenge.
  • 757
  • 05 Aug 2021
Topic Review
HADHA Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
  • 756
  • 22 Dec 2020
Topic Review
Infantile-Onset Ascending Hereditary Spastic Paralysis
Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia).
  • 756
  • 23 Dec 2020
Topic Review
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.
  • 756
  • 24 Dec 2020
Topic Review
Renal Tubular Dysgenesis
Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth.
  • 756
  • 24 Dec 2020
Topic Review
COL2A1 Gene
collagen type II alpha 1 chain
  • 756
  • 24 Dec 2020
Topic Review
Epigenetics and Cellular Metabolism
Epigenetics refers to the regulatory code that dictates gene expression or not and can be stably inherited in the absence of a constant genomic sequence. The current research content of epigenetics mainly includes DNA methylation and hydroxylmethylation, histone modifications, chromosome remodeling, and non-coding RNA regulation. In the early stage of CRC, DNA methylation status begins to change abnormally, mainly through the hypermethylation of some CpG islands leading to the down-regulation of gene expression and genome-wide hypomethylation, which cause genome instability to participate in tumorigenesis and development.
  • 756
  • 12 Nov 2021
Topic Review
Frataxin and Mutations linked with Disease
Frataxin, the protein implicated in Friedreich’s ataxia (FRDA), has a role in the Fe–S cluster biogenesis and possesses a well-defined structure. Several frataxin point mutations, identified in heterozygous FRDA patients, affect the protein structure and function and its binding with partners.
  • 756
  • 08 Mar 2022
Topic Review
MT-TV Gene
mitochondrially encoded tRNA valine
  • 755
  • 23 Dec 2020
Topic Review
Oral-Facial-Digital Syndrome
Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).
  • 755
  • 24 Dec 2020
Topic Review
Bietti Crystalline Dystrophy
Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.
  • 755
  • 24 Dec 2020
Topic Review
ABCC9 Gene
ATP binding cassette subfamily C member 9
  • 755
  • 24 Dec 2020
Topic Review
ENPP1 Gene
Ectonucleotide pyrophosphatase/phosphodiesterase 1: The ENPP1 gene provides instructions for making a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). 
  • 755
  • 24 Dec 2020
Topic Review
OCRL Gene
OCRL, inositol polyphosphate-5-phosphatase
  • 755
  • 24 Dec 2020
Topic Review
EXOSC3 Gene
Exosome component 3: The EXOSC3 gene provides instructions for making a protein known as exosome component 3. 
  • 755
  • 24 Dec 2020
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