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Topic Review
TREX1 Gene
Three prime repair exonuclease 1: The TREX1 gene provides instructions for making the 3-prime repair exonuclease 1 enzyme.
  • 828
  • 25 Dec 2020
Topic Review
RPL5 Gene
ribosomal protein L5
  • 828
  • 24 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.
  • 827
  • 23 Dec 2020
Topic Review
Koolen-de Vries Syndrome
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).
  • 827
  • 23 Dec 2020
Topic Review
SPR Gene
sepiapterin reductase
  • 827
  • 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.
  • 827
  • 25 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.
  • 826
  • 24 Dec 2020
Topic Review
CREBBP Gene
CREB binding protein
  • 826
  • 24 Dec 2020
Topic Review
Detection of microRNAs
MicroRNAs (miRNA) include a set of short, noncoding proteins and small RNA molecules with a length of 20–24 nt, generated by the RNase-III-type enzyme Dicer from an endogenous transcript that contains a local hairpin structure. After unwinding, the miRNA forms part of the RNA-induced silencing complex (RISC) assembly and causes translational repression or mRNA degradation.
  • 826
  • 26 Jul 2021
Topic Review
MTHFR Gene
methylenetetrahydrofolate reductase
  • 825
  • 23 Dec 2020
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.
  • 825
  • 24 Dec 2020
Topic Review
ZAP70-related Severe Combined Immunodeficiency
ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system.
  • 825
  • 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).
  • 825
  • 08 Mar 2022
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.
  • 824
  • 23 Dec 2020
Topic Review
Triple A Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.
  • 824
  • 23 Dec 2020
Topic Review
Aromatase Deficiency
Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
  • 824
  • 24 Dec 2020
Topic Review
TCOF1 Gene
Treacle ribosome biogenesis factor 1: The TCOF1 gene provides instructions for making a protein called treacle.
  • 824
  • 24 Dec 2020
Topic Review
EVC Gene
EvC ciliary complex subunit 1
  • 824
  • 24 Dec 2020
Topic Review
FGF8 Gene
Fibroblast growth factor 8: The FGF8 gene provides instructions for making a protein called fibroblast growth factor 8 (FGF8). 
  • 824
  • 25 Dec 2020
Topic Review
FMR1 Gene
Fragile X mental retardation 1
  • 824
  • 25 Dec 2020
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