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Topic Review
PDGFB Gene
platelet derived growth factor subunit B
  • 860
  • 25 Dec 2020
Topic Review
TREM2 Gene
Triggering receptor expressed on myeloid cells 2: The TREM2 gene provides instructions for making a protein called triggering receptor expressed on myeloid cells 2.
  • 860
  • 25 Dec 2020
Topic Review
Influence of Prenatal Methamphetamine Abuse on the Brain
Methamphetamine (MA), a psychostimulant, has become a serious problem in recent years. It is one of the most widely abused psychostimulants in the world.
  • 860
  • 29 Oct 2021
Topic Review
Update on Cellular Models of Striated Muscle Laminopathies
The lamin A/C gene (LMNA) codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms of the A-type lamins - lamins A and C. Mutations found throughout LMNA cause a group of diseases collectively known as laminopathies, of which the type, diversity, penetrance, and severity of phenotypes can vary from one individual to the other, even between individuals carrying the same mutation. The majority of laminopathies affect the cardiac and/or skeletal muscles. The underlying molecular mechanisms contributing to such tissue-specific phenotypes caused by mutations in a ubiquitously expressed gene are not yet well elucidated.
  • 860
  • 21 Feb 2023
Topic Review
SOST-Related Sclerosing Bone Dysplasia
SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis).
  • 860
  • 24 Dec 2020
Topic Review
Mycosis Fungoides
Mycosis fungoides is the most common 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. Although the skin is involved, the skin cells themselves are not cancerous. Mycosis fungoides usually occurs in adults over age 50, although affected children have been identified.
  • 859
  • 23 Dec 2020
Topic Review
Léri-Weill Dyschondrosteosis
Léri-Weill dyschondrosteosis is a disorder of bone growth.
  • 859
  • 24 Dec 2020
Topic Review
Nonsyndromic Paraganglioma
Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia.
  • 859
  • 24 Dec 2020
Topic Review
Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.
  • 859
  • 24 Dec 2020
Topic Review
COL1A2 Gene
collagen type I alpha 2 chain
  • 859
  • 24 Dec 2020
Topic Review
EDNRB Gene
Endothelin receptor type B: The EDNRB gene provides instructions for making a protein called endothelin receptor type B. 
  • 859
  • 24 Dec 2020
Topic Review
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.
  • 859
  • 25 Dec 2020
Topic Review
Familial Paroxysmal Nonkinesigenic Dyskinesia
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.
  • 859
  • 25 Dec 2020
Topic Review
Hereditary Colorectal Cancer Syndromes
Colorectal cancer (CRC) is the third most commonly diagnosed cancer worldwide. Hereditary CRC syndromes account for approximately 5–10% of all CRC, with a lifetime risk of CRC that approaches 50–80% in the absence of endoscopic or surgical treatment. Hereditary CRC syndromes can be phenotypically divided into polyposis and non-polyposis syndrome, mainly according to the conditions of polyps. 
  • 859
  • 10 Feb 2023
Topic Review
SUCLA2 Gene
Succinate-CoA ligase ADP-forming beta subunit: The SUCLA2 gene provides instructions for making one part (a beta subunit) of an enzyme called succinate-CoA ligase.
  • 858
  • 24 Dec 2020
Topic Review
ZMPSTE24 Gene
Zinc metallopeptidase STE24: the ZMPSTE24 gene provides instructions for making a protein that acts as a protease.
  • 858
  • 24 Dec 2020
Topic Review
CLN11 Disease
CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function.
  • 858
  • 24 Dec 2020
Topic Review
ERCC6 Gene
ERCC excision repair 6, chromatin remodeling factor
  • 858
  • 24 Dec 2020
Topic Review
PLA2G6 Gene
phospholipase A2 group VI
  • 858
  • 25 Dec 2020
Topic Review
Analysis of Catalogue for Transmission Genetics in Arabs
Lebanon has a high annual incidence of birth defects at 63 per 1000 live births, most of which are due to genetic factors. The Catalogue for Transmission Genetics in Arabs (CTGA) database, currently holds data on 642 genetic diseases and 676 related genes, described in Lebanese subjects. A subset of disorders (14/642) has exclusively been described in the Lebanese population, while 24 have only been reported in CTGA and not on OMIM. An analysis of all disorders highlights a preponderance of congenital malformations, deformations and chromosomal abnormalities and demonstrates that 65% of reported disorders follow an autosomal recessive inheritance pattern. In addition, our analysis reveals that at least 58 known genetic disorders were first mapped in Lebanese families. CTGA also hosts 1316 variant records described in Lebanese subjects, 150 of which were not reported on ClinVar or dbSNP. Most variants involved substitutions, followed by deletions, duplications, as well as in-del and insertion variants. This review of genetic data from the CTGA database highlights the need for screening programs, and is, to the best of our knowledge, the most comprehensive report on the status of genetic disorders in Lebanon to date.
  • 858
  • 26 Oct 2021
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