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Topic Review
HPS3 Gene
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
  • 582
  • 23 Dec 2020
Topic Review
Glycoprotein VI Deficiency
Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots.
  • 581
  • 23 Dec 2020
Topic Review
Multiple Sulfatase Deficiency
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.
  • 581
  • 23 Dec 2020
Topic Review
LPAR6 Gene
Lysophosphatidic acid receptor 6
  • 581
  • 23 Dec 2020
Topic Review
NKX2-1 Gene
NK2 homeobox 1
  • 579
  • 23 Dec 2020
Topic Review
Juvenile Primary Osteoporosis
Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture.
  • 579
  • 23 Dec 2020
Topic Review
Clinical Genetics of Inherited Arrhythmogenic Disease in children
Sudden death is a rare event in the pediatric population but with a social shock due to its presentation as the first symptom in previously healthy children. Comprehensive autopsy in pediatric cases identify an inconclusive cause in 40–50% of cases. In such cases, a diagnosis of sudden arrhythmic death syndrome is suggested as the main potential cause of death. Molecular autopsy identifies nearly 30% of cases under 16 years of age carrying a pathogenic/potentially pathogenic alteration in genes associated with any inherited arrhythmogenic disease. In the last few years, despite the increasing rate of post-mortem genetic diagnosis, many families still remain without a conclusive genetic cause of the unexpected death.
  • 576
  • 12 Jan 2022
Topic Review
KCNQ2 Gene
Potassium voltage-gated channel subfamily Q member 2
  • 574
  • 23 Dec 2020
Topic Review
MicroRNAs in Parkinson’s Disease/Diabetes Mellitus
Parkinson’s disease (PD) is a neurodegenerative disorder that affects 1% of the population over the age of 60. Diabetes Mellitus (DM) is a metabolic disorder that affects approximately 25% of adults over the age of 60. Recent studies showed that DM increases the risk of developing PD. The link between DM and PD has been discussed in the literature in relation to different mechanisms including mitochondrial dysfunction, oxidative stress, and protein aggregation. 
  • 574
  • 27 Apr 2021
Topic Review
HLA-DRB1 Gene
Major histocompatibility complex, class II, DR beta 1
  • 571
  • 23 Dec 2020
Topic Review
Isolated Duane Retraction Syndrome
Isolated Duane retraction syndrome is a disorder of eye movement.
  • 568
  • 23 Dec 2020
Topic Review
HSD17B4 Gene
Hydroxysteroid 17-beta dehydrogenase 4
  • 567
  • 23 Dec 2020
Topic Review
Kniest Dysplasia
Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.
  • 566
  • 23 Dec 2020
Topic Review
Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body.
  • 564
  • 24 Dec 2020
Topic Review
DNA Barcoding Study of Thymus Species
Genetic diversity, evolution and phylogeny of Thymus species have received considerable attention, with application of newly developed methods. DNA barcoding is one of the modern methods applied successfully to the taxonomy of various groups of living organisms. DNA barcoding has been successfully applied for identifying different species in commercial samples of herbs and for the identification of different Lamiaceae species. However, its application to infrageneric Thymus taxonomy did not allow definite conclusions.
  • 564
  • 04 Mar 2022
Topic Review
Hepatic Lipase Deficiency
Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids).
  • 563
  • 04 Apr 2021
Topic Review
TSEN54 Gene
tRNA splicing endonuclease subunit 54
  • 561
  • 22 Dec 2020
Topic Review
MSX2 Gene
msh homeobox 2
  • 561
  • 23 Dec 2020
Topic Review
Directed Cycles Evolve with Junk DNA
Cell responses are usually viewed as transitive events with fixed inputs and outputs that are regulated by feedback loops. In contrast, directed cycles (DCs) have all nodes connected, and the flow is in a single direction. Consequently, DCs can regenerate themselves and implement intransitive logic. DCs are able to couple unrelated chemical reactions to each edge. The output depends upon which node is used as input.
  • 560
  • 22 Nov 2023
Topic Review
GPC3 Gene
Glypican 3
  • 559
  • 22 Dec 2020
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  • 135
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