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Topic Review
PIK3R2 Gene
phosphoinositide-3-kinase regulatory subunit 2
  • 809
  • 25 Dec 2020
Topic Review
Pulmonary Veno-occlusive Disease
Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins).
  • 808
  • 24 Dec 2020
Topic Review
Critical Congenital Heart Disease
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
  • 808
  • 24 Dec 2020
Topic Review
Omics and Male Infertility
Male infertility is a multifaceted disorder affecting approximately 50% of male partners in infertile couples. Over the years, male infertility has been diagnosed mainly through semen analysis, hormone evaluations, medical records and physical examinations, which of course are fundamental, but yet inefficient, because 30% of male infertility cases remain idiopathic. This dilemmatic status of the unknown needs to be addressed with more sophisticated and result-driven technologies and/or techniques. Genetic alterations have been linked with male infertility, thereby unveiling the practicality of investigating this disorder from the “omics” perspective. Omics aims at analyzing the structure and functions of a whole constituent of a given biological function at different levels, including the molecular gene level (genomics), transcript level (transcriptomics), protein level (proteomics) and metabolites level (metabolomics).
  • 808
  • 08 Mar 2022
Topic Review
Congenital Hyperinsulinism
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.
  • 807
  • 24 Dec 2020
Topic Review
SLC25A4 Gene
solute carrier family 25 member 4
  • 807
  • 24 Dec 2020
Topic Review
Factor X Deficiency
Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood.
  • 807
  • 25 Dec 2020
Topic Review
Familial Osteochondritis Dissecans
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton.
  • 807
  • 25 Dec 2020
Topic Review
PARK7 Gene
Parkinsonism associated deglycase
  • 807
  • 25 Dec 2020
Topic Review
Histone Modifications in Alzheimer’s Disease
Since Late-onset Alzheimer’s disease (LOAD) derives from a combination of genetic variants and environmental factors, epigenetic modifications have been predicted to play a role in the etiopathology of LOAD. Along with DNA methylation, histone modifications have been proposed as the main epigenetic modifications that contribute to the pathologic mechanisms of LOAD.
  • 807
  • 15 May 2023
Topic Review
Associated Diseases of SLC4 Proteins in Human Tissues
The solute carrier family 4 (SLC4) is an important protein responsible for the transport of various ions across the cell membrane and mediating diverse physiological functions, such as the ion transporting function, protein-to-protein interactions, and molecular transduction. The deficiencies in SLC4 molecules may cause multisystem disease involving, particularly, the respiratory system, digestive, urinary, endocrine, hematopoietic, and central nervous systems. 
  • 807
  • 30 Oct 2023
Topic Review
Graves Disease
Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck.
  • 807
  • 23 Dec 2020
Topic Review
Glutamate Formiminotransferase Deficiency
Glutamate formiminotransferase deficiency is an inherited disorder that affects physical and mental development. There are two forms of this condition, which are distinguished by the severity of symptoms.
  • 806
  • 23 Dec 2020
Topic Review
Congenital Dyserythropoietic Anemia
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.
  • 806
  • 24 Dec 2020
Topic Review
EBP Gene
EBP, cholestenol delta-isomerase
  • 806
  • 24 Dec 2020
Topic Review
SLC40A1 Gene
solute carrier family 40 member 1
  • 806
  • 24 Dec 2020
Topic Review
FGFR2 Gene
Fibroblast growth factor receptor 2: The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2). 
  • 806
  • 25 Dec 2020
Topic Review
FMR1 Gene
Fragile X mental retardation 1
  • 806
  • 25 Dec 2020
Topic Review
Leprosy
Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person.
  • 805
  • 23 Dec 2020
Topic Review
Lysinuric Protein Intolerance
Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein.
  • 805
  • 24 Dec 2020
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