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Topic Review
PLP1 Gene
proteolipid protein 1
  • 871
  • 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. 
  • 871
  • 08 Dec 2021
Topic Review
Cis-Regulatory Elements in Mammals
In cis-regulatory elements, enhancers and promoters with complex molecular interactions are used to coordinate gene transcription through physical proximity and chemical modifications. These processes subsequently influence the phenotypic characteristics of an organism. An in-depth exploration of enhancers and promoters can substantially enhance researchers' understanding of gene regulatory networks, shedding new light on mammalian development, evolution and disease pathways.
  • 871
  • 18 Jan 2024
Topic Review
TET2 Gene
Tet methylcytosine dioxygenase 2: The TET2 gene provides instructions for making a protein whose function is unknown. 
  • 870
  • 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.
  • 870
  • 31 Dec 2020
Topic Review
DFNB1
Most DFNB1 phenotypes are described as prelingual and bilateral non-syndromic hearing loss, this being severe to profound. This type of deafness affects all frequencies and is not associated with inner ear malformations.
  • 870
  • 30 Aug 2021
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
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.
  • 870
  • 23 Dec 2020
Topic Review
GRN-Related Frontotemporal Lobar Degeneration
GRN-related frontotemporal lobar degeneration is a progressive brain disorder that can affect behavior, language, and movement.
  • 869
  • 23 Dec 2020
Topic Review
Townes-Brocks Syndrome
Townes-Brocks syndrome is a genetic condition that affects several parts of the body.
  • 869
  • 23 Dec 2020
Topic Review
SBDS Gene
SBDS, ribosome maturation factor
  • 869
  • 24 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
Hirschsprung Disease
Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine.
  • 868
  • 23 Dec 2020
Topic Review
Tietz Syndrome
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair.
  • 868
  • 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).
  • 868
  • 24 Dec 2020
Topic Review
DES Gene
Desmin
  • 868
  • 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
MAPT Gene
Microtubule associated protein tau
  • 867
  • 23 Dec 2020
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