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Topic Review
Mal de Meleda
Mal de Meleda is a rare skin disorder that begins in early infancy.
  • 652
  • 23 Dec 2020
Topic Review
CUL7 Gene
Cullin 7: The CUL7 gene provides instructions for making a protein called cullin-7.
  • 652
  • 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.
  • 652
  • 19 Feb 2021
Topic Review
Microvillus Inclusion Disease
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.
  • 651
  • 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).
  • 651
  • 24 Dec 2020
Topic Review
GNAT2 Gene
G protein subunit alpha transducin 2
  • 651
  • 22 Dec 2020
Topic Review
Greig Cephalopolysyndactyly Syndrome
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe.
  • 650
  • 23 Dec 2020
Topic Review
TBXAS1 Gene
Thromboxane A synthase 1: The TBXAS1 gene provides instructions for making an enzyme called thromboxane A synthase 1.
  • 650
  • 24 Dec 2020
Topic Review
HRAS Gene
HRas proto-oncogene, GTPase
  • 649
  • 23 Dec 2020
Topic Review
SCN5A Gene
sodium voltage-gated channel alpha subunit 5
  • 649
  • 24 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. 
  • 649
  • 03 Aug 2023
Topic Review
RFXANK Gene
regulatory factor X associated ankyrin containing protein
  • 648
  • 24 Dec 2020
Topic Review
NDP Gene
NDP, norrin cystine knot growth factor
  • 647
  • 23 Dec 2020
Topic Review
LMBRD1 Gene
LMBR1 domain containing 1
  • 647
  • 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.
  • 647
  • 23 Dec 2020
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).
  • 647
  • 24 Dec 2020
Topic Review
SLC2A10 Gene
solute carrier family 2 member 10
  • 647
  • 24 Dec 2020
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.
  • 647
  • 30 Sep 2021
Topic Review
Sudden Unexpected Death in Epilepsy
Epilepsy is a common neurological disorder associated with increased morbidity and mortality. Sudden unexpected death in epilepsy, also known as SUDEP, is the main cause of death in patients with epilepsy. SUDEP has an incidence of 1.2 per 1000 person-years in adults and 0.2 per 1000 person-years in children. 
  • 647
  • 02 Mar 2022
Topic Review
MID1 Gene
midline 1
  • 646
  • 22 Dec 2020
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  • 135
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