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Topic Review
Child and Adolescent Obesity
Child and adolescent obesity constitute one of the greatest contemporary public health menaces. The enduring disproportion between calorie intake and energy consumption, determined by a complex interaction of genetic, epigenetic, and environmental factors, finally leads to the development of overweight and obesity. Child and adolescent overweight/obesity promotes smoldering systemic inflammation (“para-inflammation”) and increases the likelihood of later metabolic and cardiovascular complications, including metabolic syndrome and its components, which progressively deteriorate during adulthood. Exosomes are endosome-derived extracellular vesicles that are secreted by a variety of cells, are naturally taken-up by target cells, and may be involved in many physiological and pathological processes. Over the last decade, intensive research has been conducted regarding the special role of exosomes and the non-coding (nc) RNAs they contain (primarily micro (mi) RNAs, long (l) non-coding RNAs, messenger (m) RNAs and other molecules) in inter-cellular communications. Through their action as communication mediators, exosomes may contribute to the pathogenesis of obesity and associated disorders. There is increasing evidence that exosomal miRNAs and lncRNAs are involved in pivotal processes of adipocyte biology and that, possibly, play important roles in gene regulation linked to human obesity. 
  • 1.2K
  • 14 Apr 2021
Topic Review
Alternative Splicing of hTERT
Alternative splicing (AS) of human telomerase catalytic subunit (hTERT, human telomerase reverse transcriptase) pre-mRNA strongly regulates telomerase activity. Several proteins can regulate AS in a cell type-specific manner and determine the functions of cells. In addition to being involved in telomerase activity regulation, AS provides cells with different splice variants that may have alternative biological activities. The modulation of telomerase activity through the induction of hTERT AS is involved in the development of different cancer types and embryos, and the differentiation of stem cells. Regulatory T cells may suppress the proliferation of target human and murine T and B lymphocytes and NK cells in a contact-independent manner involving activation of TERT AS. 
  • 1.2K
  • 18 May 2021
Topic Review
MECP2-Related Disorders in Males
Methyl CpG binding protein 2 ( MECP2 ) is an unstructured protein that can adopt local secondary structures when binding to other molecules, which explains its involvement in multiple molecular interactions and thereby, functions. Thus, MECP2 is a multifunctional gene that acts as a transcriptional regulator (both activating and repressing) and a chromatin remodeler; it also interacts with the RNA splicing machinery and with microRNA processing machinery, among others. Post-translational modifications are also implicated in regulating its activity and interactions with other proteins.
  • 1.2K
  • 08 Feb 2022
Topic Review
Bipolar Disorder
Bipolar disorder is a mental health condition that causes extreme shifts in mood, energy, and behavior. This disorder most often appears in late adolescence or early adulthood, although symptoms can begin at any time of life.
  • 1.2K
  • 24 Dec 2020
Topic Review
Boomerang Dysplasia
Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.
  • 1.2K
  • 24 Dec 2020
Topic Review
Spastic Paraplegia Type 5A
Spastic paraplegia type 5A is one of a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.2K
  • 23 Dec 2020
Topic Review
Thiopurine S-methyltransferase Deficiency
Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
  • 1.2K
  • 23 Dec 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.
  • 1.2K
  • 17 Nov 2023
Topic Review
FGG Gene
Fibrinogen gamma chain
  • 1.2K
  • 25 Dec 2020
Topic Review
Sheldon-Hall Syndrome
Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet.
  • 1.2K
  • 25 Dec 2020
Topic Review
FBXL4-Related Early Onset Mitochondrial Encephalopathy
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins in infancy and affects multiple body systems. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy).
  • 1.2K
  • 04 Jan 2021
Topic Review
Nemaline Myopathy
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs.
  • 1.2K
  • 23 Dec 2020
Topic Review
Formins in Human Monogenic Disease
Almost 25 years have passed since a mutation of a formin gene, DIAPH1, was identified as being responsible for a human inherited disorder: a form of sensorineural hearing loss. Since then, our knowledge of the links between formins and disease has deepened considerably. Mutations of DIAPH1 and six other formin genes (DAAM2, DIAPH2, DIAPH3, FMN2, INF2 and FHOD3) have been identified as the genetic cause of a variety of inherited human disorders, including intellectual disability, renal disease, peripheral neuropathy, thrombocytopenia, primary ovarian insufficiency, hearing loss and cardiomyopathy.
  • 1.2K
  • 18 Oct 2021
Topic Review
Genetic Engineering for Cannabis sativa L.
Cannabis sativa L. (Cannabis, hemp or marijuana) is an erect annual herb of the Cannabiceae family. Cannabis is considered to be monotypic (occurs as a single species), but arguments for its polytypic nature also exist.
  • 1.2K
  • 20 May 2022
Topic Review
Tay-Sachs Disease
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.  
  • 1.2K
  • 23 Dec 2020
Topic Review
Griscelli Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy.
  • 1.2K
  • 23 Dec 2020
Topic Review
Delta133p53 Isoforms of Human TP53
The TP53 gene is a critical tumor suppressor and key determinant of cell fate which regulates numerous cellular functions including DNA repair, cell cycle arrest, cellular senescence, apoptosis, autophagy and metabolism. The delta133p53 isoforms are critical regulators of these biological processes in human physiology and diseases such as cancer.  
  • 1.2K
  • 28 Sep 2021
Topic Review
Monoubiquitin Signaling in Genetic Diseases
Ubiquitination is a reversible post-translational modification that controls protein function and stability. Different types of ubiquitination were described including polyubiquitination, the attachment of multiple ubiquitin residues, or monoubiquitination, the attachment of a single ubiquitin molecule. While most of the studies have described the role of polyubiquitination, recent evidences show that monoubiquitination is a key regulator of different cellular processes, including vesicular trafficking and protein complex formation and degradation. Enzymes regulating monoubiquitination such as E2 conjugating enzymes, E3 ligases or ubiquitin hydrolases, are found altered in several genetic diseases, including Parkinson's disease or Noonan syndrome.
  • 1.2K
  • 29 Oct 2020
Topic Review
Megalencephaly-Capillary Malformation Syndrome
Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
  • 1.2K
  • 23 Dec 2020
Topic Review
Woodhouse-Sakati Syndrome
Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family.  
  • 1.2K
  • 24 Dec 2020
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