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Topic Review
Gnathodiaphyseal Dysplasia
Gnathodiaphyseal dysplasia is a disorder that affects the bones.
  • 659
  • 23 Dec 2020
Topic Review
RAB27A Gene
RAB27A, member RAS oncogene family
  • 659
  • 23 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).
  • 658
  • 24 Dec 2020
Topic Review
HRAS Gene
HRas proto-oncogene, GTPase
  • 657
  • 23 Dec 2020
Topic Review
Lysosomal Acid Lipase Deficiency
Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism).
  • 657
  • 24 Dec 2020
Topic Review
RFXANK Gene
regulatory factor X associated ankyrin containing protein
  • 657
  • 24 Dec 2020
Topic Review
TBXAS1 Gene
Thromboxane A synthase 1: The TBXAS1 gene provides instructions for making an enzyme called thromboxane A synthase 1.
  • 657
  • 24 Dec 2020
Topic Review
ERCC3 Gene
ERCC excision repair 3, TFIIH core complex helicase subunit
  • 657
  • 24 Dec 2020
Topic Review
TFAP2B Gene
Transcription factor AP-2 beta: The TFAP2B gene provides instructions for making a protein called transcription factor AP-2β.
  • 657
  • 25 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. 
  • 657
  • 03 Aug 2023
Topic Review
GNAT2 Gene
G protein subunit alpha transducin 2
  • 656
  • 22 Dec 2020
Topic Review
LMBRD1 Gene
LMBR1 domain containing 1
  • 656
  • 23 Dec 2020
Topic Review
Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.
  • 656
  • 23 Dec 2020
Topic Review
NSM for BRCA-mutated patients
Growing numbers of asymptomatic women who become aware of carrying a breast cancer gene (BRCA) mutation are choosing to undergo risk-reducing bilateral mastectomies with immediate breast reconstruction. We reviewed the literature with the aim of assessing the oncological safety of nipple-sparing mastectomy (NSM) as a risk-reduction procedure in BRCA-mutated patients.
  • 656
  • 19 Feb 2021
Topic Review
Lissencephaly with Cerebellar Hypoplasia
Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).
  • 656
  • 24 Dec 2020
Topic Review
PSAP Gene
prosaposin
  • 655
  • 23 Dec 2020
Topic Review
SCN5A Gene
sodium voltage-gated channel alpha subunit 5
  • 655
  • 24 Dec 2020
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.
  • 655
  • 20 Nov 2023
Topic Review
MT-ND4L Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
  • 654
  • 23 Dec 2020
Topic Review
NBEAL2 Gene
neurobeachin like 2
  • 654
  • 23 Dec 2020
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