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Topic Review
MT-ND1 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
  • 780
  • 23 Dec 2020
Topic Review
MT-TK Gene
mitochondrially encoded tRNA lysine
  • 780
  • 23 Dec 2020
Topic Review
Von Hippel-Lindau Syndrome
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.  
  • 780
  • 23 Dec 2020
Topic Review
EGLN1 Gene
Egl-9 family hypoxia inducible factor 1
  • 780
  • 24 Dec 2020
Topic Review
FZD2 Gene
Frizzled class receptor 2
  • 780
  • 25 Dec 2020
Topic Review
Sézary Syndrome
Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the cancerous T cells, called Sézary cells, are present in the blood, skin, and lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, described as cerebriform.  
  • 779
  • 23 Dec 2020
Topic Review
Hyperparathyroidism-Jaw Tumor Syndrome
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.
  • 779
  • 23 Dec 2020
Topic Review
RASA1 Gene
RAS p21 protein activator 1
  • 779
  • 23 Dec 2020
Topic Review
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia).
  • 779
  • 24 Dec 2020
Topic Review
Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40.
  • 779
  • 24 Dec 2020
Topic Review
SETBP1 Disorder
SETBP1 disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.
  • 779
  • 24 Dec 2020
Topic Review
Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.
  • 779
  • 25 Dec 2020
Topic Review
WNT4 Gene
Wnt family member 4: The WNT4 gene belongs to a family of WNT genes that play critical roles in development before birth. WNT genes provide instructions for making proteins that participate in chemical signaling pathways in the body. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development.
  • 778
  • 24 Dec 2020
Topic Review
Congenital Plasminogen Deficiency
Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. The growths may recur after being removed.
  • 778
  • 24 Dec 2020
Topic Review
SLC25A24 Gene
solute carrier family 25 member 24
  • 778
  • 24 Dec 2020
Topic Review
Sperm DNA Oxidation
Sperm DNA Oxidation has destructive effects on sperm structures and functions, thus can result in male infertility. The particular composition of the sperm membrane, rich in polyunsaturated fatty acids, and the easy access of sperm DNA to oxidative damage due to sperm cell specific cytologic and metabolic features (no cytoplasm left and cells unable to mount stress responses) make it the cell type in metazoans most susceptible to oxidative damage. In particular, oxidative damage to the spermatozoa genome is an important issue and a cause of male infertility, usually associated with single- or double-strand paternal DNA breaks.
  • 778
  • 27 Jan 2021
Topic Review
Complex Transposon Insertion, Novel Cause of Pompe Disease
Pompe disease (OMIM#232300) is an autosomal recessive lysosomal storage disorder caused by mutations in the GAA gene. According to public mutation databases, more than 679 pathogenic variants have been described in GAA, none of which are associated with mobile genetic elements. In this article, we report a novel molecular genetic cause of Pompe disease, which could be hardly detected using routine molecular genetic analysis. Whole genome sequencing followed by comprehensive functional analysis allowed us to discover and characterize a complex mobile genetic element insertion deep in the intron 15 of the GAA gene in a patient with infantile onset Pompe disease.
  • 778
  • 28 Oct 2021
Topic Review
Hailey-Hailey Disease
Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can become crusty or scaly and may itch and burn. The skin problems tend to worsen with exposure to moisture (such as sweat), friction, and hot weather.
  • 777
  • 23 Dec 2020
Topic Review
Juvenile Paget Disease
Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).
  • 777
  • 23 Dec 2020
Topic Review
EPM2A Gene
EPM2A, laforin glucan phosphatase
  • 777
  • 24 Dec 2020
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