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Topic Review
Microcephalic Osteodysplastic Primordial Dwarfism TypeII
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly).
  • 755
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type III
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.
  • 755
  • 23 Dec 2020
Topic Review
WDR45 Gene
WD repeat domain 45.
  • 755
  • 24 Dec 2020
Topic Review
Renal Hypouricemia
Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood.
  • 755
  • 24 Dec 2020
Topic Review
DYNC2H1 Gene
Dynein Cytoplasmic 2 Heavy Chain 1
  • 755
  • 24 Dec 2020
Topic Review
Permanent Neonatal Diabetes Mellitus
Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan.
  • 755
  • 24 Dec 2020
Topic Review
LncRNAs in Traumatic Brain Injury
The biomedical studies of traumatic brain injury (TBI) can lead to insight for treatment clinically. However, TBIs are occurred by various risk factors and showing heterogeneity that make difficult to accurate diagnosis for initiation treatment of patients. Therefore, identification of biomarkers requires to prediction and therapeutics for TBI treatment. The canonical function of the long non-coding RNAs (lncRNAs) have been recently shown to promote transcription, post-transcription, and protein activity in many different conditions. 
  • 755
  • 30 Jan 2021
Topic Review
Genetic Control of Avian Migration
Twice-a-year, large-scale movement of billions of birds across latitudinal gradients is one of the most fascinating behavioral phenomena seen among animals. These seasonal voyages in autumn southwards and in spring northwards occur within a discrete time window and, as part of an overall annual itinerary, involve close interaction of the endogenous rhythm at several levels with prevailing photoperiod and temperature. The overall success of seasonal migrations thus depends on their close coupling with the other annual sub-cycles, namely those of the breeding, post-breeding recovery, molt and non-migratory periods. There are striking alterations in the daily behavior and physiology with the onset and end of the migratory period, as shown by the phase inversions in behavioral (a diurnal passerine bird becomes nocturnal and flies at night) and neural activities. Interestingly, there are also differences in the behavior, physiology and regulatory strategies between autumn and spring (vernal) migrations. Concurrent molecular changes occur in regulatory (brain) and metabolic (liver, flight muscle) tissues, as shown in the expression of genes particularly associated with 24 h timekeeping, fat accumulation and the overall metabolism.
  • 755
  • 16 Jun 2023
Topic Review
Hypermanganesemia with Dystonia
Hypermanganesemia with dystonia is an inherited disorder in which excessive amounts of the element manganese accumulate in the body (hypermanganesemia).
  • 754
  • 23 Dec 2020
Topic Review
DYRK1A Gene
Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A
  • 754
  • 24 Dec 2020
Topic Review
CARD9 Gene
caspase recruitment domain family member 9
  • 754
  • 24 Dec 2020
Topic Review
SPECC1L Gene
sperm antigen with calponin homology and coiled-coil domains 1 like
  • 754
  • 24 Dec 2020
Topic Review
FKBP14 Gene
FKBP prolyl isomerase 14: The FKBP14 gene provides instructions for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). 
  • 754
  • 25 Dec 2020
Topic Review
LncRNAs Display Circadian Rhythmicity in Zebrafish Larvae
Long noncoding RNAs (lncRNAs) have been shown to play crucial roles in various life processes, including circadian rhythms. Although next generation sequencing technologies have facilitated faster profiling of lncRNAs, the resulting datasets require sophisticated computational analyses. In particular, the regulatory roles of lncRNAs in circadian clocks are far from being completely understood.
  • 754
  • 07 Dec 2021
Topic Review
MUC1 Gene
mucin 1, cell surface associated
  • 752
  • 23 Dec 2020
Topic Review
Multiple Mitochondrial Dysfunctions Syndrome
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.
  • 752
  • 01 May 2021
Topic Review
MECP2-Related Severe Neonatal Encephalopathy
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy).
  • 752
  • 24 Dec 2020
Topic Review
NPHS1 Gene
NPHS1, nephrin
  • 752
  • 24 Dec 2020
Topic Review
Ethylmalonic Encephalopathy
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system.
  • 752
  • 25 Dec 2020
Topic Review
DNA Methylation Episignatures in Neurodevelopmental Disorders
Large structural chromosomal deletions and duplications, referred to as copy number variants (CNVs), play a role in the pathogenesis of neurodevelopmental disorders (NDDs) through effects on gene dosage. 
  • 752
  • 08 Aug 2022
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