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Topic Review
PRNP Gene
Prion protein
  • 1.3K
  • 04 Jan 2021
Topic Review
Feingold Syndrome
Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.
  • 1.3K
  • 25 Dec 2020
Topic Review
FMO3 Gene
Flavin containing monooxygenase 3
  • 1.3K
  • 25 Dec 2020
Topic Review
Role of Glycosylation in Thrombopoiesis and Platelet Clearance
Protein glycosylation, including sialylation, involves complex and frequent post-translational modifications, which play a critical role in different biological processes. The conjugation of carbohydrate residues to specific molecules and receptors is critical for normal hematopoiesis, as it favors the proliferation and clearance of hematopoietic precursors. Through this mechanism, the circulating platelet count is controlled by the appropriate platelet production by megakaryocytes, and the kinetics of platelet clearance.
  • 1.3K
  • 16 Mar 2023
Topic Review
BARD1 Mutations
A catalog of BARD1 germline mutations/pathogenic variants (PVs) identified in large cumulative cohorts of ~48,700 breast cancer (BC) and ~20,800 ovarian cancer (OC) cases prepared based on 123 studies published over 20 years of BARD1 gene screening. By comparing the frequency of BARD1 PVs in the cases and ~134,100 noncancer controls from the gnomAD database, the effect of the BARD1 PVs on BC and OC risks is estimated.  
  • 1.3K
  • 30 Jul 2020
Topic Review
GAN Gene
Gigaxonin
  • 1.3K
  • 25 Dec 2020
Topic Review
HGPPS
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal.
  • 1.3K
  • 04 Jan 2021
Topic Review
Pharmacogenomic Biomarkers in Psychiatry
Pharmacogenomic biomarkers are potential individual genetic variations that can affect drug response influencing both pharmacokinetic parameters by causing variable activity of the systems responsible for the absorption, distribution, metabolism, and excretion of the drug and pharmacodynamic parameters like the mechanisms of action of the drug. Here, the term "pharmacogenomic biomarkers in psychiatry" means those related to a variety of psychiatric disorders, such as depression, ADHD, narcolepsy, schizophrenia, bipolar disorder, and epilepsy. 
  • 1.3K
  • 10 Feb 2021
Topic Review
CRISPR/Cas9-Based Genome Editing on Abiotic Stress Tolerance
Plants are subjected to various environmental stresses that negatively impact growth and development and limit crop productivity. Therefore, in order to meet the requirements of the growing world population and food security, it is essential to develop cultivars resistant to abiotic stresses. In recent years, with the availability of genetic databases and the advancement in genome editing techniques, it is feasible to edit target genes with precision and create new opportunities for crop improvement that conventional breeding methods could not achieve. The genome-editing method using CRISPR-Cas systems is very powerful and confers exceptional versatility to develop improved cultivars at abiotic stresses. These efficient gene editing techniques facilitate the cultivation of superior-performing genotypes in challenging environmental conditions without compromising yield.
  • 1.3K
  • 17 Nov 2023
Topic Review
Transcriptomes through mRNA Splicing
Human transcriptomes are more divergent than genes and contribute to the sophistication of life. This divergence is derived from various isoforms arising from alternative splicing. In addition, alternative splicing regulated by spliceosomal factors and RNA structures, such as the RNA G-quadruplex, is important not only for isoform diversity but also for regulating gene expression. Therefore, abnormal splicing leads to serious diseases such as cancer and neurodegenerative disorders.We describe the regulation of divergent transcriptomes using alternative mRNA splicing.
  • 1.3K
  • 01 Nov 2020
Topic Review
Arts Syndrome
Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.
  • 1.3K
  • 24 Dec 2020
Topic Review
Chromosome 7
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 7, one copy inherited from each parent, form one of the pairs.
  • 1.3K
  • 24 Dec 2020
Topic Review
ALK Gene
ALK receptor tyrosine kinase. The ALK gene provides instructions for making a protein called ALK receptor tyrosine kinase, which is part of a family of proteins called receptor tyrosine kinases (RTKs). 
  • 1.3K
  • 24 Dec 2020
Topic Review
Bloom Syndrome
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.
  • 1.3K
  • 24 Dec 2020
Topic Review
FGFR3 Gene
Fibroblast growth factor receptor 3: The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. 
  • 1.3K
  • 25 Dec 2020
Topic Review
MN1 C-Terminal Truncation Syndrome
MN1 C-terminal truncation (MCTT) syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.
  • 1.3K
  • 23 Dec 2020
Topic Review
Genetics of Impulsivity
In psychology, impulsivity (or impulsiveness) is a tendency to act on a whim, displaying behavior characterized by little or no forethought, reflection, or consideration of the consequences. Impulsive actions are typically "poorly conceived, prematurely expressed, unduly risky, or inappropriate to the situation that often result in undesirable consequences," which imperil long-term goals and strategies for success. Impulsivity can be classified as a multifactorial construct. A functional variety of impulsivity has also been suggested, which involves action without much forethought in appropriate situations that can and does result in desirable consequences. "When such actions have positive outcomes, they tend not to be seen as signs of impulsivity, but as indicators of boldness, quickness, spontaneity, courageousness, or unconventionality" Thus, the construct of impulsivity includes at least two independent components: first, acting without an appropriate amount of deliberation, which may or may not be functional; and second, choosing short-term gains over long-term ones. Impulsivity is both a facet of personality and a major component of various disorders, including ADHD, substance use disorders, bipolar disorder, antisocial personality disorder, and borderline personality disorder. Abnormal patterns of impulsivity have also been noted instances of acquired brain injury and neurodegenerative diseases. Neurobiological findings suggest that there are specific brain regions involved in impulsive behavior, although different brain networks may contribute to different manifestations of impulsivity, and that genetics may play a role. Many actions contain both impulsive and compulsive features, but impulsivity and compulsivity are functionally distinct. Impulsivity and compulsivity are interrelated in that each exhibits a tendency to act prematurely or without considered thought and often include negative outcomes. Compulsivity may be on a continuum with compulsivity on one end and impulsivity on the other, but research has been contradictory on this point. Compulsivity occurs in response to a perceived risk or threat, impulsivity occurs in response to a perceived immediate gain or benefit, and, whereas compulsivity involves repetitive actions, impulsivity involves unplanned reactions. Impulsivity is a common feature of the conditions of gambling and alcohol addiction. Research has shown that individuals with either of these addictions discount delayed money at higher rates than those without, and that the presence of gambling and alcohol abuse lead to additive effects on discounting.
  • 1.3K
  • 15 Nov 2022
Topic Review
Assisted Reproductive Techniques (ART)
To increase the efficiency of assisted reproductive techniques (ART), molecular studies have been performed to identify the best predictive biomarkers for selecting the most suitable germ cells for fertilization and the best embryo for intra-uterine transfer.
  • 1.3K
  • 16 Aug 2021
Topic Review
Miller-Dieker Syndrome
Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly.
  • 1.3K
  • 23 Dec 2020
Topic Review
Freeman-Sheldon Syndrome
Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."
  • 1.3K
  • 25 Dec 2020
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