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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
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
Familial TAAD
Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.
  • 1.3K
  • 04 Jan 2021
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
FMO3 Gene
Flavin containing monooxygenase 3
  • 1.3K
  • 25 Dec 2020
Topic Review
GAN Gene
Gigaxonin
  • 1.3K
  • 25 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
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
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
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
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
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
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
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
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
RNA Interference in Fungi
RNA interference (RNAi) was discovered at the end of last millennium, changing the way scientists understood regulation of gene expression. Within the following two decades, a variety of different RNAi mechanisms were found in eukaryotes, reflecting the evolutive diversity that RNAi entails. The essential silencing mechanism consists of an RNase III enzyme called Dicer that cleaves double-stranded RNA (dsRNA) generating small interfering RNAs (siRNAs), a hallmark of RNAi. These siRNAs are loaded into the RNA-induced silencing complex (RISC) triggering the cleavage of complementary messenger RNAs by the Argonaute protein, the main component of the complex. Consequently, the expression of target genes is silenced. This mechanism has been thoroughly studied in fungi due to their proximity to the animal phylum and the conservation of the RNAi mechanism from lower to higher eukaryotes. However, the role and even the presence of RNAi differ across the fungal kingdom, as it has evolved adapting to the particularities and needs of each species. Fungi have exploited RNAi to regulate a variety of cell activities as different as defense against exogenous and potentially harmful DNA, genome integrity, development, drug tolerance, or virulence. This pathway has offered versatility to fungi through evolution, favoring the enormous diversity this kingdom comprises. 
  • 1.3K
  • 11 Oct 2021
Topic Review
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.
  • 1.3K
  • 31 Dec 2020
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
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
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