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Topic Review
Cerebro-facio-thoracic Dysplasia
Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) and torso (thoracic).
  • 784
  • 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.
  • 784
  • 25 Dec 2020
Topic Review
SRD5A2 Gene
Steroid 5 alpha-reductase 2: The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. 
  • 783
  • 22 Dec 2020
Topic Review
BCS1L Gene
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • 783
  • 24 Dec 2020
Topic Review
Bunion
A bunion, known technically as hallux valgus, is a bony bump on the side of the foot at the base of the big toe. Bunions develop slowly as pressure on the joint at the base of the big toe causes the toe to move out of place, leaning inward toward the second toe. Because this joint carries a lot of weight during activities like standing and walking, bunions can cause foot pain, stiffness, redness, and swelling. Calluses may form where the big toe and second toe rub together or on the ball of the foot. Unless they are treated, bunions get worse over time, and it may become difficult to wear regular shoes or walk without pain. Bunions can occur in one or both feet.
  • 783
  • 24 Dec 2020
Topic Review
Caffey Disease
Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease. The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs. Affected bones may double or triple in width, which can be seen by x-ray imaging. In some cases two bones that are next to each other, such as two ribs or the pairs of long bones in the forearms (radius and ulna) or lower legs (tibia and fibula) become fused together. Babies with Caffey disease also have swelling of joints and of soft tissues such as muscles, with pain and redness in the affected areas. Affected infants can also be feverish and irritable.
  • 783
  • 24 Dec 2020
Topic Review
SETBP1 Disorder
SETBP1 disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.
  • 783
  • 24 Dec 2020
Topic Review
EGLN1 Gene
Egl-9 family hypoxia inducible factor 1
  • 783
  • 24 Dec 2020
Topic Review
GRACILE Syndrome
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
  • 782
  • 23 Dec 2020
Topic Review
MT-TK Gene
mitochondrially encoded tRNA lysine
  • 782
  • 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.
  • 782
  • 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).
  • 782
  • 23 Dec 2020
Topic Review
Multicentric Osteolysis, Nodulosis, and Arthropathy
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet. MONA includes a condition formerly called nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar disorder called Torg syndrome, although it is unknown whether Torg syndrome is actually part of MONA or a separate disorder caused by a mutation in a different gene.
  • 782
  • 23 Dec 2020
Topic Review
Argininosuccinic Aciduria
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 782
  • 24 Dec 2020
Topic Review
Renal Coloboma Syndrome
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development.
  • 782
  • 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.
  • 782
  • 24 Dec 2020
Topic Review
TNNI2 Gene
Troponin I2, fast skeletal type: The TNNI2 gene provides instructions for making one form of a protein called troponin I.
  • 782
  • 25 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.
  • 782
  • 12 Nov 2021
Topic Review
ASPM Gene
abnormal spindle microtubule assembly
  • 781
  • 24 Dec 2020
Topic Review
Hearing Loss Caused by KCNQ1 and KCNQ4 Variants
Deafness-associated genes KCNQ1 (also associated with heart diseases) and KCNQ4 (only associated with hearing loss) encode the homotetrameric voltage-gated potassium ion channels Kv7.1 and Kv7.4, respectively. To date, over 700 KCNQ1 and over 70 KCNQ4 variants have been identified in patients. The vast majority of these variants are inherited dominantly, and their pathogenicity is often explained by dominant-negative inhibition or haploinsufficiency.
  • 781
  • 12 Oct 2022
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