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Topic Review
TCHH Gene
Trichohyalin: The TCHH gene provides instructions for making a protein called trichohyalin. This protein is primarily found in hair follicles, which are specialized structures in the skin where hair growth occurs.
  • 1.2K
  • 24 Dec 2020
Topic Review
TNXB Gene
Tenascin XB: The TNXB gene provides instructions for making a protein called tenascin-X.
  • 1.2K
  • 25 Dec 2020
Topic Review
JAK2 Gene
Janus kinase 2
  • 1.2K
  • 04 Jan 2021
Topic Review
CARASIL
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.
  • 1.2K
  • 04 Jan 2021
Topic Review
Piebaldism
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair.
  • 1.2K
  • 21 Feb 2021
Topic Review
Role of Glycosylation in Thrombopoiesis and Platelet Clearance
Protein glycosylation, including sialylation, involves complex and frequent post-translational modifications, which play a critical role in different biological processes. The conjugation of carbohydrate residues to specific molecules and receptors is critical for normal hematopoiesis, as it favors the proliferation and clearance of hematopoietic precursors. Through this mechanism, the circulating platelet count is controlled by the appropriate platelet production by megakaryocytes, and the kinetics of platelet clearance.
  • 1.2K
  • 16 Mar 2023
Topic Review
Axenfeld-Rieger Syndrome
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.
  • 1.2K
  • 24 Dec 2020
Topic Review
Genetic Therapy for Spina Bifida
Spina bifida (SB) is the most common congenital defect of the central nervous system. Despite family history being a risk factor for SB development, recurrence patterns are not attributed to a single genetic locus. Instead, SB is a complex trait caused by a combination of variants at multiple loci and involving multiple genes.
  • 1.2K
  • 24 Jun 2022
Topic Review
APC Gene
APC, WNT signaling pathway regulator
  • 1.2K
  • 24 Dec 2020
Topic Review
Alzheimer Disease
Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.
  • 1.2K
  • 24 Dec 2020
Topic Review
CA12 Gene
carbonic anhydrase 12
  • 1.2K
  • 24 Dec 2020
Topic Review
Complete PAI-1 Deficiency
Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 deficiency) is a disorder that causes abnormal bleeding. In people with this disorder, bleeding associated with injury can be excessive and last longer than usual.
  • 1.2K
  • 04 Jan 2021
Topic Review
Bowen-Conradi Syndrome
Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.
  • 1.2K
  • 24 Dec 2020
Topic Review
Initiation of DNA Replication
DNA replication is fundamental to the maintenance and diversification of life. In eukaryotic cells, DNA replication initiates from multiple origins deployed across the whole genome, implying the need for a tight orchestration of their firing. Complex multi-step regulatory mechanisms coordinate such efforts and ensure that the genome is fully duplicated. Notably, a large excess of DNA replication origins are present throughout the human genome, with only 5–10% of them firing throughout S phase. Based on their usage, DNA replication origins are classified into the following three categories: (1) constitutive origins that invariably fire in all cells of a population, (2) flexible origins (the majority) that only fire in some cells of a population, and (3) dormant origins that are kept silent during normal conditions but can become activated upon DNA damage when a replication fork stalls in the vicinity.
  • 1.2K
  • 04 Jul 2023
Topic Review
Aarskog-Scott syndrome
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.
  • 1.2K
  • 23 Dec 2020
Topic Review
PAX3 Gene
paired box 3
  • 1.2K
  • 25 Dec 2020
Topic Review
1p36 Deletion Syndrome
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
  • 1.2K
  • 25 Dec 2020
Topic Review
Chromosome 12
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
PAH Gene
phenylalanine hydroxylase
  • 1.2K
  • 25 Dec 2020
Topic Review
Sickle Cell Disease
Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disease have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
  • 1.2K
  • 04 Jan 2021
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