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Topic Review
TECTA Gene
TECTA: Tectorin alpha. The TECTA gene provides instructions for making a protein called alpha-tectorin.
  • 845
  • 24 Dec 2020
Topic Review
Lacrimo-Auriculo-Dento-Digital Syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).
  • 844
  • 23 Dec 2020
Topic Review
Chediak-Higashi Syndrome
Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.
  • 844
  • 24 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.
  • 844
  • 24 Dec 2020
Topic Review
FZD6 Gene
Frizzled class receptor 6
  • 844
  • 25 Dec 2020
Topic Review
Familial Atrial Fibrillation
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm.
  • 844
  • 25 Dec 2020
Topic Review
MicroRNA-Target Interaction Regulatory Network
Alzheimer’s Disease (AD) is a progressive neurodegenerative disorder and the most common cause of dementia; however, early diagnosis of the disease is challenging. Research suggests that biomarkers found in blood, such as microRNAs (miRNA), may be promising for AD diagnostics. Experimental data on miRNA–target interactions (MTI) associated with AD are scattered across databases and publications, thus making the identification of promising miRNA biomarkers for AD difficult. In response to this, a list of experimentally validated AD-associated MTIs was obtained from miRTarBase. Cytoscape was used to create a visual MTI network. STRING software was used for protein–protein interaction analysis and mirPath was used for pathway enrichment analysis. Several targets regulated by multiple miRNAs were identified, including: BACE1, APP, NCSTN, SP1, SIRT1, and PTEN. The miRNA with the highest numbers of interactions in the network were: miR-9, miR-16, miR-34a, miR-106a, miR-107, miR-125b, miR-146, and miR-181c. The analysis revealed seven subnetworks, representing disease modules which have a potential for further biomarker development. The obtained MTI network is not yet complete, and additional studies are needed for the comprehensive understanding of the AD-associated miRNA targetome. 
  • 844
  • 08 Dec 2021
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. 
  • 843
  • 24 Dec 2020
Topic Review
Congenital Stromal Corneal Dystrophy
Congenital stromal corneal dystrophy is an inherited eye disorder.
  • 843
  • 24 Dec 2020
Topic Review
DYSF Gene
Dysferlin: The DYSF gene provides instructions for making a protein called dysferlin. 
  • 843
  • 24 Dec 2020
Topic Review
HDAC8 Gene
Histone deacetylase 8
  • 842
  • 22 Dec 2020
Topic Review
Hereditary Pancreatitis
Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis).
  • 842
  • 23 Dec 2020
Topic Review
CYP27B1 Gene
Cytochrome P450 Family 27 Subfamily B Member 1: The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1α-hydroxylase). 
  • 842
  • 23 Dec 2020
Topic Review
Pyridoxal 5'-Phosphate-Dependent Epilepsy
Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions.
  • 842
  • 24 Dec 2020
Topic Review
ABCB4 Gene
ATP binding cassette subfamily B member 4
  • 842
  • 24 Dec 2020
Topic Review
PEX7 Gene
peroxisomal biogenesis factor 7
  • 842
  • 25 Dec 2020
Topic Review
Hashimoto Thyroiditis
Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck.
  • 841
  • 23 Dec 2020
Topic Review
TBX1 Gene
T-box 1: The TBX1 gene provides instructions for making a protein called T-box 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. 
  • 841
  • 24 Dec 2020
Topic Review
X-linked Juvenile Retinoschisis
X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males.
  • 841
  • 24 Dec 2020
Topic Review
TINF2 Gene
TERF1 interacting nuclear factor 2 (TINF2): The TINF2 gene provides instructions for making part of the shelterin protein complex.
  • 841
  • 25 Dec 2020
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