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Topic Review
TET2 Gene
Tet methylcytosine dioxygenase 2: The TET2 gene provides instructions for making a protein whose function is unknown. 
  • 882
  • 25 Dec 2020
Topic Review
TPM3 Gene
Tropomyosin 3: The TPM3 gene provides instructions for making a protein called slow muscle alpha (α)-tropomyosin, which is part of the tropomyosin protein family. 
  • 882
  • 25 Dec 2020
Topic Review
SCN1A Gene
sodium voltage-gated channel alpha subunit 1
  • 882
  • 24 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). 
  • 881
  • 24 Dec 2020
Topic Review
EDN3 Gene
Endothelin 3: The EDN3 gene provides instructions for making a protein called endothelin 3. 
  • 881
  • 24 Dec 2020
Topic Review
Pathogenesis and Therapeutics for Huntington’s Disease
Huntington’s disease (HD) is a debilitating neurodegenerative genetic disorder caused by an expanded polyglutamine-coding (CAG) trinucleotide repeat in the huntingtin (HTT) gene. HD behaves as a highly penetrant dominant disorder likely acting through a toxic gain of function by the mutant huntingtin protein. Widespread cellular degeneration of the medium spiny neurons of the caudate nucleus and putamen are responsible for the onset of symptomology that encompasses motor, cognitive, and behavioural abnormalities. 
  • 881
  • 06 Sep 2023
Topic Review
DES Gene
Desmin
  • 881
  • 24 Dec 2020
Topic Review
BAP1 Gene
BRCA1 associated protein 1
  • 880
  • 24 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.
  • 880
  • 19 Nov 2021
Topic Review
Update on Cellular Models of Striated Muscle Laminopathies
The lamin A/C gene (LMNA) codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms of the A-type lamins - lamins A and C. Mutations found throughout LMNA cause a group of diseases collectively known as laminopathies, of which the type, diversity, penetrance, and severity of phenotypes can vary from one individual to the other, even between individuals carrying the same mutation. The majority of laminopathies affect the cardiac and/or skeletal muscles. The underlying molecular mechanisms contributing to such tissue-specific phenotypes caused by mutations in a ubiquitously expressed gene are not yet well elucidated.
  • 880
  • 21 Feb 2023
Topic Review
PAX6 Gene
paired box 6
  • 880
  • 25 Dec 2020
Topic Review
Anauxetic Dysplasia
Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder.
  • 879
  • 24 Dec 2020
Topic Review
Schinzel-Giedion Syndrome
Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems.
  • 879
  • 24 Dec 2020
Topic Review
SOS1 Gene
SOS Ras/Rac guanine nucleotide exchange factor 1
  • 879
  • 24 Dec 2020
Topic Review
PLP1 Gene
proteolipid protein 1
  • 879
  • 25 Dec 2020
Topic Review
Warfarin Sensitivity
Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin.
  • 878
  • 23 Dec 2020
Topic Review
Beta-Ureidopropionase Deficiency
Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals.
  • 878
  • 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.
  • 878
  • 25 Dec 2020
Topic Review
NSCLC Concurrent EGFR Genomic Alterations
Non-small cell lung cancer (NSCLC) accounts for roughly 85–90% of overall cases of lung malignancies and includes different histological subtypes. The treatment landscape of NSCLC has been terrifically changed by the discovery of Epidermal Growth Factor Receptor (EGFR) mutations and their response to the EGFR tyrosine kinase inhibitors (TKIs). EGFR gene aberrations have been defined as oncogenic driver mutations which occurred in 5–17% of lung adenocarcinomas among Caucasian patients, while in approximately 45–55% of the Asian population. Nowadays, EGFR-TKIs are the standard of care for patients affected by advanced EGFR-mutated NSCLC considering their established prolonged progression-free survival (PFS) in comparison to the standard chemotherapy approach. However, TKIs clinical efficacy remains restricted due to the development of resistance, which has been hardly clarified. The recent technological breakthrough and the advent of next-generation sequencing (NGS) platforms have enabled comprehensive profiling of the genome, providing novel evidence of co-existing multiple driver alterations.
  • 878
  • 22 Jun 2021
Topic Review
Gene Therapy Approaches for the Hemophilia B
In contrast to the standard enzyme-replacement therapy, administered from once per 7–14 days to 2–3 times a week in patients with severe hemophilia B, as a result of a single injection, gene therapy can restore F9 gene expression and maintain it for a prolonged time. In clinical research, the approach of delivering a functional copy of a gene using adeno-associated viral (AAV) vectors is widely used. The scientific community is actively researching possible modifications to improve delivery efficiency and expression. In preclinical studies, the possibility of genome editing using CRISPR/Cas9 technology for the treatment of hemophilia B is also being actively studied.
  • 878
  • 13 Jul 2023
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