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Topic Review
TSEN2 Gene
tRNA splicing endonuclease subunit 2
  • 956
  • 22 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails.
  • 956
  • 23 Dec 2020
Topic Review
CEBPA-Dependent Familial Acute Myeloid Leukemia
Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection; red blood cells (erythrocytes) that carry oxygen; and platelets (thrombocytes), which are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.
  • 956
  • 04 Jan 2021
Topic Review
CyberGenomics
Cybersecurity (CS) field is a complex discipline with multiple layers. We deconstruct the CS specialist as a material (naturally/ genetically determined) and non-material (psychologically determined) entity. This entity is mapped to CS competences required to conduct everyday tasks where psychological factors are also present (e.g. stress). All the structural prerequisites for the development and functioning of the psyche are genetically coded and controlled. Behavior genetics addresses the interdisciplinary effort to establish causal links between genomic loci and human behavioral traits and neural mechanisms. Almost every human behavioral trait is a result of many genome variants in action altogether with environmental factors. Cybergenomics focuses on contextualizing the behavior genetics aspects in the application of cybersecurity.
  • 956
  • 30 Nov 2021
Topic Review
Humans and the Olfactory Environment
The sense of smell is underappreciated. Though less crucial than sight or hearing, it tells about what people neither see nor hear. It also enriches sight and hearing with biochemical data on objects of interest. Finally, by producing disgust or pleasure, it helps decide whether such objects should be avoided or approached. Humans have remade their olfactory environment, typically by making it more pleasant-smelling, just as they have remade their visual environment to make it more pleasant-looking. But the process has not been one-way. By remaking the environment, people have ended up remaking ourselves. On the one hand, humans have been creating more and more of their world; on the other hand, this human-created world has been modifying their genomes via natural selection.  
  • 956
  • 16 Jun 2022
Topic Review
Chromosome 16 Open Reading Frame 13
An Error has occurred retrieving Wikidata item for infobox Chromosome 16 open reading frame 13, also called C16orf13, is a protein-coding gene of unknown function, also known as JFP2. Though the function of this gene is unknown, various data have revealed that it is expressed at high levels in various cancerous tissues. Underexpression of this gene has also been linked to disease consequences in humans.
  • 956
  • 27 Sep 2022
Topic Review
Norrie Disease
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.
  • 955
  • 24 Dec 2020
Topic Review
C9orf72-Associated Toxic Dipeptide Repeats
Protein homeostasis is essential for neuron longevity, requiring a balanced regulation between protein synthesis and degradation. The clearance of misfolded and aggregated proteins, mediated by autophagy and the ubiquitin–proteasome systems, maintains protein homeostasis in neurons, which are post-mitotic and thus cannot use cell division to diminish the burden of misfolded proteins. When protein clearance pathways are overwhelmed or otherwise disrupted, the accumulation of misfolded or aggregated proteins can lead to the activation of ER stress and the formation of stress granules, which predominantly attempt to restore the homeostasis by suppressing global protein translation. Alterations in these processes have been widely reported among studies investigating the toxic function of dipeptide repeats (DPRs) produced by G4C2 expansion in the C9orf72 gene of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  • 955
  • 26 Jan 2024
Topic Review
LIPH Gene
Lipase H
  • 954
  • 23 Dec 2020
Topic Review
CHARGE Syndrome
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics.
  • 954
  • 24 Dec 2020
Topic Review
CDKN2A Gene
cyclin dependent kinase inhibitor 2A
  • 954
  • 24 Dec 2020
Topic Review
Roberts Syndrome
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities.
  • 954
  • 24 Dec 2020
Topic Review
SMC3 Gene
structural maintenance of chromosomes 3
  • 954
  • 24 Dec 2020
Topic Review
TNFRSF1A Gene
TNF receptor superfamily member 1A: The TNFRSF1A gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1).
  • 954
  • 25 Dec 2020
Topic Review
IKBKG Gene
Inhibitor of nuclear factor kappa B kinase subunit gamma
  • 953
  • 23 Dec 2020
Topic Review
Tuberous Sclerosis Complex
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body.
  • 953
  • 23 Dec 2020
Topic Review
EDA Gene
Ectodysplasin A: The EDA gene provides instructions for making a protein called ectodysplasin A. 
  • 953
  • 24 Dec 2020
Topic Review
Proteus Syndrome
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.
  • 953
  • 24 Dec 2020
Topic Review
Genome/Gene Editing
Theoretically, a DNA sequence-specific recognition protein that can distinguish a DNA sequence equal to or more than 16 bp could be unique to mammalian genomes. Long-sequence-specific nucleases, such as naturally occurring Homing Endonucleases and artificially engineered ZFN, TALEN, and Cas9-sgRNA, have been developed and widely applied in genome editing.
  • 953
  • 28 Sep 2021
Topic Review
Mannose-Binding Lectin Deficiency
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.
  • 952
  • 23 Dec 2020
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