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Topic Review
Denys-Drash Syndrome
Denys-Drash syndrome is a condition that affects the kidneys and genitalia.
  • 966
  • 24 Dec 2020
Topic Review
Chromosome 14
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 14, one copy inherited from each parent, form one of the pairs.
  • 965
  • 24 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.
  • 965
  • 24 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).
  • 965
  • 24 Dec 2020
Topic Review
Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake.
  • 964
  • 24 Dec 2020
Topic Review
FZD4 Gene
Frizzled class receptor 4
  • 964
  • 25 Dec 2020
Topic Review
KL Gene
klotho
  • 964
  • 04 Jan 2021
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. 
  • 963
  • 21 Dec 2020
Topic Review
SLCO1B1 Gene
solute carrier organic anion transporter family member 1B1
  • 963
  • 24 Dec 2020
Topic Review
EZH2 Gene
Enhancer of zeste 2 polycomb repressive complex 2 subunit
  • 963
  • 29 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.
  • 963
  • 03 Feb 2023
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. 
  • 962
  • 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).
  • 962
  • 25 Dec 2020
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.
  • 962
  • 24 Dec 2020
Topic Review
EPCAM Gene
Epithelial cell adhesion molecule
  • 961
  • 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.
  • 961
  • 04 Jan 2021
Topic Review
Uncombable Hair Syndrome
Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. 
  • 960
  • 23 Dec 2020
Topic Review
TRIP11 Gene
Thyroid hormone receptor interactor 11: The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210). 
  • 960
  • 25 Dec 2020
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.
  • 960
  • 31 Dec 2020
Topic Review
Chromosome 4
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from each parent, form one of the pairs.
  • 959
  • 24 Dec 2020
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