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Topic Review
NNT Gene
nicotinamide nucleotide transhydrogenase
  • 858
  • 24 Dec 2020
Topic Review
X-linked Creatine Deficiency
X-linked creatine deficiency is an inherited disorder that primarily affects the brain.
  • 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
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.
  • 857
  • 22 Dec 2020
Topic Review
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.
  • 857
  • 23 Dec 2020
Topic Review
WT1 Gene
Wilms tumor 1: the WT1 gene provides instructions for making a protein that is necessary for the development of the kidneys and gonads (ovaries in females and testes in males) before birth. After birth, WT1 protein activity is limited to a structure known as the glomerulus, which filters blood through the kidneys. 
  • 857
  • 24 Dec 2020
Topic Review
RUNX2
runt related transcription factor 2
  • 857
  • 24 Dec 2020
Topic Review
ATP7A Gene
ATPase copper transporting alpha
  • 857
  • 24 Dec 2020
Topic Review
CLCN1 Gene
chloride voltage-gated channel 1
  • 857
  • 24 Dec 2020
Topic Review
F11 Gene
Coagulation factor XI
  • 857
  • 24 Dec 2020
Topic Review
TECTA Gene
TECTA: Tectorin alpha. The TECTA gene provides instructions for making a protein called alpha-tectorin.
  • 856
  • 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.
  • 856
  • 25 Dec 2020
Topic Review
GPR101 Gene
G protein-coupled receptor 101
  • 855
  • 22 Dec 2020
Topic Review
Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.
  • 855
  • 23 Dec 2020
Topic Review
CAV3 Gene
caveolin 3
  • 855
  • 24 Dec 2020
Topic Review
CYP3A5 Genotype
Transplanted patients on tacrolimus treatment are sometimes switched from an immediate release (bid) formulation to a modified release (qd) formulation. Following the switch changes in drug concentrations can be observed. Published data suggest that these changes are more pronounced in CYP3A5 enzyme expressers than in non-expressers. Possibly these differences are due to the fact that in the upper region of the small intestine CYP3A activity is higher, and that this expression of CYP3A decreases towards the more distal parts of the gut. Modified release formulations may therefore be subject to less pre-systemic metabolism. In all patients in whom the formulation of tacrolimus is changed drug levels need to be checked to avoid clinically relevant under- or over-exposure. In patients with the CYP3A5 expresser genotype this recommendation is even more important, as changes in drug exposure can be expected. 
  • 855
  • 18 Jan 2021
Topic Review
MT-TL1 Gene
mitochondrially encoded tRNA leucine 1 (UUA/G)
  • 855
  • 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.
  • 854
  • 23 Dec 2020
Topic Review
Ornithine Transcarbamylase Deficiency
Ornithine transcarbamylase deficiency 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.
  • 854
  • 24 Dec 2020
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