Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
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.
  • 852
  • 25 Dec 2020
Topic Review
PDGFB Gene
platelet derived growth factor subunit B
  • 852
  • 25 Dec 2020
Topic Review
PIK3CD Gene
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
  • 852
  • 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.
  • 852
  • 26 Oct 2021
Topic Review
Hirschsprung Disease
Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine.
  • 852
  • 23 Dec 2020
Topic Review
STAT4 Gene
Signal transducer and activator of transcription 4: The STAT4 gene provides instructions for a protein that acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.
  • 851
  • 22 Dec 2020
Topic Review
Nonsyndromic Paraganglioma
Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia.
  • 851
  • 24 Dec 2020
Topic Review
CLCN1 Gene
chloride voltage-gated channel 1
  • 851
  • 24 Dec 2020
Topic Review
PLA2G6 Gene
phospholipase A2 group VI
  • 851
  • 25 Dec 2020
Topic Review
F11 Gene
Coagulation factor XI
  • 850
  • 24 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.
  • 850
  • 25 Dec 2020
Topic Review
Cross-Amplification in Strigiformes: A New STR Panel
Strigiformes are affected by a substantial decline mainly caused by habitat loss and destruction, poaching, and trapping. Moreover, the increasing trend in bird trade and the growing interest in wild-caught rather than captive-bred birds are expected to encourage illegal trade. The biomolecular investigation represents a valuable tool to track illegal trade and to explore the genetic variability to preserving biodiversity. Microsatellite loci (STRs) are the most used markers to study genetic variability. Despite the availability of species-specific microsatellite loci in Strigiformes, a unique panel permitting the description of the genetic variability across species has not been identified yet.
  • 850
  • 19 Nov 2021
Topic Review
GNE Gene
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • 849
  • 23 Dec 2020
Topic Review
NNT Gene
nicotinamide nucleotide transhydrogenase
  • 849
  • 24 Dec 2020
Topic Review
Erdheim-Chester Disease
Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.
  • 849
  • 25 Dec 2020
Topic Review
GPR101 Gene
G protein-coupled receptor 101
  • 848
  • 22 Dec 2020
Topic Review
Myhre Syndrome
Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age.
  • 848
  • 23 Dec 2020
Topic Review
White Sponge Nevus
White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue.
  • 848
  • 23 Dec 2020
Topic Review
ZMPSTE24 Gene
Zinc metallopeptidase STE24: the ZMPSTE24 gene provides instructions for making a protein that acts as a protease.
  • 848
  • 24 Dec 2020
Topic Review
CNGA3 Gene
cyclic nucleotide gated channel alpha 3
  • 848
  • 24 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Books

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of COVID-19
Academic Video Service
Feedback