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Topic Review
PLCG2 Gene
phospholipase C gamma 2
  • 1.0K
  • 25 Dec 2020
Topic Review
TSC2 Gene
TSC complex subunit 2
  • 1.0K
  • 25 Dec 2020
Topic Review
Regulation of Class Switch Recombination by G4 Structures
Mature B cells notably diversify immunoglobulin (Ig) production through class switch recombination (CSR), allowing the junction of distant “switch” (S) regions. CSR is initiated by activation-induced deaminase (AID), which targets cytosines adequately exposed within single-stranded DNA of transcribed targeted S regions, with a specific affinity for WRCY motifs. In mammalian S regions, abundant G4 (G-quadruplex) DNA on the non-template strand also contributes to the formation of R-loops while the presence of G4 structures within the primary transcripts from S regions participates into recruiting AID. The ability of G4 ligands to modulate the CSR process also underlines the key role of G4 structures in the regulation of CSR.
  • 1.0K
  • 03 Feb 2023
Topic Review
Ayurgenomics and Modern Medicine
Within the disciplines of modern medicine, P4 medicine is emerging as a new field which focuses on the whole patient. The development of Ayurgenomics could greatly enrich P4 medicine by providing a clear theoretical understanding of the whole patient and a practical application of ancient and modern preventative and therapeutic practices to improve mental and physical health. One of the most difficult challenges today is understanding the ancient concepts of Ayurveda in terms of modern science. To date, a number of researchers have attempted this task, of which one of the most successful outcomes is the creation of the new field of Ayurgenomics. Ayurgenomics integrates concepts in Ayurveda, such as Prakriti, with modern genetics research. It correlates the combination of three doshas, Vata, Pitta and Kapha, with the expression of specific genes and physiological characteristics. It also helps to interpret Ayurveda as an ancient science of epigenetics which assesses the current state of the doshas, and uses specific personalized diet and lifestyle recommendations to improve a patient’s health. This review provides a current update of this emerging field. 
  • 1.0K
  • 21 Dec 2020
Topic Review
Alport Syndrome
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
  • 999
  • 24 Dec 2020
Topic Review
PACS1 Syndrome
PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems.
  • 998
  • 24 Dec 2020
Topic Review
Renpenning Syndrome
Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features.
  • 998
  • 24 Dec 2020
Topic Review
NPM1 Gene
nucleophosmin 1
  • 998
  • 24 Dec 2020
Topic Review
SUOX Gene
Sulfite oxidase: The SUOX gene provides instructions for making an enzyme called sulfite oxidase, which helps break down protein building blocks (amino acids) that contain sulfur when they are no longer needed.
  • 997
  • 24 Dec 2020
Topic Review
Kidney Stones
Kidney stones (also called renal stones or urinary stones) are small, hard deposits that form in one or both kidneys; the stones are made up of minerals or other compounds found in urine. Kidney stones vary in size, shape, and color.
  • 996
  • 23 Dec 2020
Topic Review
Carney Complex
Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.
  • 996
  • 24 Dec 2020
Topic Review
FLNA Gene
Filamin A
  • 996
  • 25 Dec 2020
Topic Review
Klippel-Trenaunay Syndrome
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.
  • 995
  • 23 Dec 2020
Topic Review
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.
  • 995
  • 24 Dec 2020
Topic Review
FREM2 Gene
FRAS1 related extracellular matrix protein 2
  • 995
  • 25 Dec 2020
Topic Review
BTK Gene
Bruton tyrosine kinase
  • 994
  • 24 Dec 2020
Topic Review
Camurati-Engelmann Disease
Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull.
  • 994
  • 24 Dec 2020
Topic Review
DOLK-congenital Disorder of Glycosylation
DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
  • 994
  • 24 Dec 2020
Topic Review
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
  • 994
  • 25 Dec 2020
Topic Review
DMPK Gene
DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. 
  • 994
  • 24 Dec 2020
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