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Topic Review
Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems.
  • 775
  • 25 Dec 2020
Topic Review
Factors Debilitating Mitochondrial Function
Alzheimer’s disease (AD) is the most frequent cause of age-related neurodegeneration and cognitive impairment, and there are currently no broadly effective therapies. The underlying pathogenesis is complex, but a growing body of evidence implicates mitochondrial dysfunction as a common pathomechanism involved in many of the hallmark features of the AD brain, such as the formation of amyloid-beta (Aβ) aggregates (amyloid plaques), neurofibrillary tangles, cholinergic system dysfunction, impaired synaptic transmission and plasticity, oxidative stress, and neuroinflammation, that lead to neurodegeneration and cognitive dysfunction. Indeed, mitochondrial dysfunction concomitant with progressive accumulation of mitochondrial Aβ is an early event in AD pathogenesis. Healthy mitochondria are critical for providing sufficient energy to maintain endogenous neuroprotective and reparative mechanisms, while disturbances in mitochondrial function, motility, fission, and fusion lead to neuronal malfunction and degeneration associated with excess free radical production and reduced intracellular calcium buffering. In addition, mitochondrial dysfunction can contribute to amyloid-β precursor protein (APP) expression and misprocessing to produce pathogenic fragments (e.g., Aβ1-40).
  • 775
  • 15 Jun 2021
Topic Review
Metachromatic Leukodystrophy
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.
  • 774
  • 23 Dec 2020
Topic Review
ADAMTSL4 Gene
ADAMTS like 4
  • 774
  • 05 Apr 2021
Topic Review
ORC4 Gene
origin recognition complex subunit 4
  • 774
  • 24 Dec 2020
Topic Review
GRN Gene
Granulin precursor
  • 773
  • 22 Dec 2020
Topic Review
TTPA Gene
Alpha tocopherol transfer protein.
  • 773
  • 23 Dec 2020
Topic Review
Joubert Syndrome
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 773
  • 23 Dec 2020
Topic Review
ASPM Gene
abnormal spindle microtubule assembly
  • 773
  • 24 Dec 2020
Topic Review
SAA1 Gene
serum amyloid A1
  • 773
  • 24 Dec 2020
Topic Review
BCS1L Gene
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • 773
  • 24 Dec 2020
Topic Review
CNGB3 Gene
cyclic nucleotide gated channel beta 3
  • 773
  • 19 Apr 2021
Topic Review
EMD Gene
Emerin: The EMD gene provides instructions for making a protein called emerin. 
  • 773
  • 24 Dec 2020
Topic Review
Reproductive Journey in Genomic Era
The aim of this entry is to assess the new horizon opened by technologies such as next-generation sequencing (NGS), in new strategies, as a genomic precision diagnostic tool to understand the mechanisms underlying genetic conditions during the “reproductive journey”.
  • 773
  • 29 Dec 2020
Topic Review
GRACILE Syndrome
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
  • 772
  • 23 Dec 2020
Topic Review
SIX1 Gene
SIX homeobox 1
  • 772
  • 24 Dec 2020
Topic Review
Epigenetic/non-epigenetic mechanisms of HIV control
The persistence of latent HIV provirus pools in different resting CD4+ cell subsets remains the greatest obstacle in the current efforts to treat and cure HIV infection. Recent efforts to purge out latently infected memory CD4+ T-cells using latency-reversing agents have failed in clinical trials. This review discusses the epigenetic and non-epigenetic mechanisms of HIV latency control, major limitations of the current approaches of using latency-reversing agents to reactivate HIV latency in resting CD4+ T-cells, and potential solutions to these limitations.
  • 772
  • 16 Apr 2021
Topic Review
SRD5A2 Gene
Steroid 5 alpha-reductase 2: The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. 
  • 771
  • 22 Dec 2020
Topic Review
Juvenile Polyposis Syndrome
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps.
  • 771
  • 23 Dec 2020
Topic Review
CRISPR/Cas9 as a Mutagenic Factor
The discovery of the CRISPR/Cas9 microbial adaptive immune system has revolutionized the field of genetics, by greatly enhancing the capacity for genome editing. CRISPR/Cas9-based editing starts with DNA breaks (or other lesions) predominantly at target sites and, unfortunately, at off-target genome sites. DNA repair systems differing in accuracy participate in establishing desired genetic changes but also introduce unwanted mutations, that may lead to hereditary, oncological, and other diseases. New approaches to alleviate the risks associated with genome editing include attenuating the off-target activity of editing complex through the use of modified forms of Cas9 nuclease and single guide RNA (sgRNA), improving delivery methods for sgRNA/Cas9 complex, and directing DNA lesions caused by the sgRNA/Cas9 to non-mutagenic repair pathways.
  • 771
  • 26 Jan 2024
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