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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.
  • 870
  • 19 Nov 2021
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. 
  • 870
  • 08 Dec 2021
Topic Review
PADI3 Gene
peptidyl arginine deiminase 3
  • 870
  • 25 Dec 2020
Topic Review
TARDBP Gene
TAR DNA binding protein: The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). 
  • 869
  • 24 Dec 2020
Topic Review
Early-onset Myopathy with Fatal Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.
  • 869
  • 25 Dec 2020
Topic Review
Familial Paroxysmal Kinesigenic Dyskinesia
Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.
  • 869
  • 25 Dec 2020
Topic Review
TPM2 Gene
Tropomyosin 2: The TPM2 gene provides instructions for making a protein called beta (β)-tropomyosin, which is part of the tropomyosin protein family. 
  • 869
  • 25 Dec 2020
Topic Review
SBDS Gene
SBDS, ribosome maturation factor
  • 869
  • 24 Dec 2020
Topic Review
Encephalocraniocutaneous Lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.
  • 868
  • 25 Dec 2020
Topic Review
TRPV4 Gene
Transient receptor potential cation channel subfamily V member 4: The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. 
  • 868
  • 25 Dec 2020
Topic Review
Immune Thrombocytopenia
Immune thrombocytopenia is a disorder characterized by a blood abnormality called thrombocytopenia, which is a shortage of blood cells called platelets that are needed for normal blood clotting.
  • 868
  • 31 Dec 2020
Topic Review
Tietz Syndrome
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair.
  • 867
  • 23 Dec 2020
Topic Review
Townes-Brocks Syndrome
Townes-Brocks syndrome is a genetic condition that affects several parts of the body.
  • 867
  • 23 Dec 2020
Topic Review
TCIRG1 Gene
TCIRG1 Gene: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3. The TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H+-ATPase (V-ATPase).
  • 867
  • 24 Dec 2020
Topic Review
DES Gene
Desmin
  • 867
  • 24 Dec 2020
Topic Review
Cartilage-Hair Hypoplasia
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.
  • 867
  • 24 Dec 2020
Topic Review
FKTN Gene
Fukutin: The FKTN gene (formerly known as FCMD) provides instructions for making a protein called fukutin. 
  • 867
  • 25 Dec 2020
Topic Review
TMCO1 Gene
Transmembrane and coiled-coil domains 1: The TMCO1 gene provides instructions for making a protein that forms specialized structures called channels through which positively charged calcium atoms (calcium ions) flow.
  • 867
  • 25 Dec 2020
Topic Review
PAX6 Gene
paired box 6
  • 867
  • 25 Dec 2020
Topic Review
Hereditary Hyperekplexia
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises.
  • 867
  • 23 Dec 2020
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