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Topic Review
Brugada Syndrome
Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.
  • 974
  • 31 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.
  • 974
  • 03 Feb 2023
Topic Review
Crouzon Syndrome
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
  • 973
  • 24 Dec 2020
Topic Review
X-linked Sideroblastic Anemia and Ataxia
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.  
  • 973
  • 24 Dec 2020
Topic Review
Denys-Drash Syndrome
Denys-Drash syndrome is a condition that affects the kidneys and genitalia.
  • 973
  • 24 Dec 2020
Topic Review
FZD4 Gene
Frizzled class receptor 4
  • 973
  • 25 Dec 2020
Topic Review
SLCO1B1 Gene
solute carrier organic anion transporter family member 1B1
  • 972
  • 24 Dec 2020
Topic Review
FOXG1 Syndrome
FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.
  • 972
  • 25 Dec 2020
Topic Review
The Supersymmetry Genetic Code table
The full set of relationship between 61 codons and 3 stop signals that specify the 20 naturals amino acids is called the genetic code. The fundamental role of symmetry in the genetic code is to decrease disorder (entropy) between codons and to preserve the integrity of system during evolution.
  • 972
  • 04 Feb 2024
Topic Review
EPCAM Gene
Epithelial cell adhesion molecule
  • 971
  • 04 Jan 2021
Topic Review
FECH Gene
Ferrochelatase: The FECH gene provides instructions for making an enzyme known as ferrochelatase. 
  • 970
  • 25 Dec 2020
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. 
  • 969
  • 21 Dec 2020
Topic Review
Branchiootorenal/Branchiootic Syndrome
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).
  • 969
  • 24 Dec 2020
Topic Review
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. 
  • 969
  • 24 Dec 2020
Topic Review
Friedreich Ataxia
Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).
  • 969
  • 25 Dec 2020
Topic Review
KL Gene
klotho
  • 969
  • 04 Jan 2021
Topic Review
ACD/MPV
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled.
  • 969
  • 04 Jan 2021
Topic Review
Heterotaxy Syndrome
Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen.
  • 968
  • 23 Dec 2020
Topic Review
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick.
  • 968
  • 23 Dec 2020
Topic Review
Ataxia-telangiectasia
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.
  • 968
  • 24 Dec 2020
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