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Topic Review
Pharmacogenomics in Psoriasis Treatment
Pharmacogenomic studies allowed the reasons behind the different responses to treatments to be understood. Its clinical utility, in fact, is demonstrated by the reduction in adverse drug reaction incidence and the improvement of drug efficacy. Pharmacogenomics is an important tool that is able to improve the drug therapy of different disorders.
  • 639
  • 30 Sep 2021
Topic Review
MYO5A Gene
myosin VA
  • 638
  • 23 Dec 2020
Topic Review
Oculodentodigital Dysplasia
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital).
  • 638
  • 24 Dec 2020
Topic Review
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 637
  • 24 Dec 2020
Topic Review
Non-Human Primate Models of Inherited Retinal Diseases
Given the significant shared similarities between Non-human primates (NHP) and humans, NHP Inherited retinal diseases (IRDs) models have the potential to provide insight into the pathogenic processes involved. In turn, this can significantly de-risk and accelerate the therapeutic development of gene therapy. Although models created using genetic methods can better recapitulate the pathogenesis of IRDs compared to laser and chemical methods, there are concerns of cost and efficacy. As improvements are made to current genetic editing technology, especially in terms of editing efficiency and reducing off-target editing, it is likely that more NHP IRD models will emerge over the subsequent years.
  • 637
  • 01 Mar 2022
Topic Review
MCOLN1 Gene
mucolipin 1
  • 636
  • 22 Dec 2020
Topic Review
MYH6 Gene
myosin heavy chain 6
  • 636
  • 23 Dec 2020
Topic Review
LMBRD1 Gene
LMBR1 domain containing 1
  • 636
  • 23 Dec 2020
Topic Review
PRKAG2 Gene
protein kinase AMP-activated non-catalytic subunit gamma 2
  • 635
  • 22 Dec 2020
Topic Review
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.
  • 635
  • 23 Dec 2020
Topic Review
CYP1B1 Gene
Cytochrome P450 Family 1 Subfamily B Member 1
  • 635
  • 23 Dec 2020
Topic Review
Transcobalamin Deficiency
Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body.
  • 634
  • 23 Dec 2020
Topic Review
KCNJ11 Gene
Potassium voltage-gated channel subfamily J member 11
  • 634
  • 23 Dec 2020
Topic Review
Catalytic Factors Associated with Post-Traumatic Stress Disorder
Post-traumatic stress disorder (PTSD) is a complex psychological disorder that develops following exposure to traumatic events. PTSD is influenced by catalytic factors such as dysregulated hypothalamic-pituitary-adrenal (HPA) axis, neurotransmitter imbalances, and oxidative stress. Genetic variations may act as important catalysts, impacting neurochemical signaling, synaptic plasticity, and stress response systems. Understanding the intricate gene networks and their interactions is vital for comprehending the underlying mechanisms of PTSD. 
  • 634
  • 03 Aug 2023
Topic Review
Second Tumors in Retinoblastoma Survivors after Ionizing Radiation
Retinoblastoma (RB) is the most common ocular neoplasm in children, whose development depends on two mutational events that occur in both alleles of the retinoblastoma susceptibility gene (RB1). Regarding the nature of these mutational events, RB can be classified as hereditary if the first event is a germline mutation and the second one is a somatic mutation in retina cells or nonhereditary if both mutational events occur in somatic cells. Although the rate of survival of RB is significantly elevated, the incidence of second malignant neoplasms (SMNs) is a concern, since SMNs are the main cause of death in these patients. Furthermore, evidence confirms that hereditary RB survivors are at a higher risk for SMNs than nonhereditary RB survivors. This risk seems to increase with the use of ionizing radiation in some therapeutic approaches commonly used in the treatment of RB.
  • 634
  • 20 Nov 2023
Topic Review
Aspartylglucosaminuria
Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.
  • 633
  • 24 Dec 2020
Topic Review
MKRN3 Gene
makorin ring finger protein 3
  • 632
  • 22 Dec 2020
Topic Review
Gastrointestinal Stromal Tumor
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine.
  • 632
  • 23 Dec 2020
Topic Review
L1CAM Gene
L1 cell adhesion molecule
  • 632
  • 23 Dec 2020
Topic Review
Prolidase Deficiency
Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may also occur. People with prolidase deficiency are susceptible to severe infections of the skin or ears, or potentially life-threatening respiratory tract infections. Some individuals with prolidase deficiency have chronic lung disease.
  • 632
  • 24 Dec 2020
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