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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.
  • 773
  • 24 Dec 2020
Topic Review
AMT Gene
aminomethyltransferase
  • 773
  • 24 Dec 2020
Topic Review
EGLN1 Gene
Egl-9 family hypoxia inducible factor 1
  • 773
  • 24 Dec 2020
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.
  • 773
  • 28 Oct 2021
Topic Review
IL23R Gene
Interleukin 23 receptor
  • 772
  • 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.  
  • 772
  • 23 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.
  • 772
  • 24 Dec 2020
Topic Review
Dopamine Beta-hydroxylase Deficiency
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).
  • 772
  • 24 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 6
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement.
  • 771
  • 23 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.  
  • 771
  • 23 Dec 2020
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.
  • 771
  • 23 Dec 2020
Topic Review
Type A Insulin Resistance Syndrome
Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 771
  • 23 Dec 2020
Topic Review
RASA1 Gene
RAS p21 protein activator 1
  • 771
  • 23 Dec 2020
Topic Review
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia).
  • 771
  • 24 Dec 2020
Topic Review
EPM2A Gene
EPM2A, laforin glucan phosphatase
  • 771
  • 24 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.
  • 770
  • 23 Dec 2020
Topic Review
Unverricht-Lundborg Disease
Unverricht-Lundborg disease is a rare inherited form of epilepsy.
  • 770
  • 23 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.
  • 770
  • 24 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.
  • 770
  • 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.
  • 770
  • 24 Dec 2020
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