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Topic Review
PIGA Gene
phosphatidylinositol glycan anchor biosynthesis class A
  • 1.3K
  • 25 Dec 2020
Topic Review
Repetitive Elements in Humans
Repetitive DNA in humans is still widely considered to be meaningless, and variations within this part of the genome are generally considered to be harmless to the carrier. In contrast, for euchromatic variation, one becomes more careful in classifying inter-individual differences as meaningless and rather tends to see them as possible influencers of the so-called ‘genetic background’, being able to at least potentially influence disease susceptibilities. Here, the known ‘bad boys’ among repetitive DNAs are reviewed. Variable numbers of tandem repeats (VNTRs = micro- and minisatellites), small-scale repetitive elements (SSREs) and even chromosomal heteromorphisms (CHs) may therefore have direct or indirect influences on human diseases and susceptibilities. Summarizing this specific aspect here for the first time should contribute to stimulating more research on human repetitive DNA. It should also become clear that these kinds of studies must be done at all available levels of resolution, i.e., from the base pair to chromosomal level and, importantly, the epigenetic level, as well.
  • 1.3K
  • 03 Mar 2021
Topic Review
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.
  • 1.3K
  • 31 Dec 2020
Topic Review
RNA Interference in Fungi
RNA interference (RNAi) was discovered at the end of last millennium, changing the way scientists understood regulation of gene expression. Within the following two decades, a variety of different RNAi mechanisms were found in eukaryotes, reflecting the evolutive diversity that RNAi entails. The essential silencing mechanism consists of an RNase III enzyme called Dicer that cleaves double-stranded RNA (dsRNA) generating small interfering RNAs (siRNAs), a hallmark of RNAi. These siRNAs are loaded into the RNA-induced silencing complex (RISC) triggering the cleavage of complementary messenger RNAs by the Argonaute protein, the main component of the complex. Consequently, the expression of target genes is silenced. This mechanism has been thoroughly studied in fungi due to their proximity to the animal phylum and the conservation of the RNAi mechanism from lower to higher eukaryotes. However, the role and even the presence of RNAi differ across the fungal kingdom, as it has evolved adapting to the particularities and needs of each species. Fungi have exploited RNAi to regulate a variety of cell activities as different as defense against exogenous and potentially harmful DNA, genome integrity, development, drug tolerance, or virulence. This pathway has offered versatility to fungi through evolution, favoring the enormous diversity this kingdom comprises. 
  • 1.3K
  • 11 Oct 2021
Topic Review
EDAR Gene
Ectodysplasin A receptor: The EDAR gene provides instructions for making a protein called the ectodysplasin A receptor. 
  • 1.3K
  • 24 Dec 2020
Topic Review
Genetic Therapy for Spina Bifida
Spina bifida (SB) is the most common congenital defect of the central nervous system. Despite family history being a risk factor for SB development, recurrence patterns are not attributed to a single genetic locus. Instead, SB is a complex trait caused by a combination of variants at multiple loci and involving multiple genes.
  • 1.3K
  • 24 Jun 2022
Topic Review
MSTN Gene
Myostatin
  • 1.3K
  • 04 Jan 2021
Topic Review
JAK2 Gene
Janus kinase 2
  • 1.3K
  • 04 Jan 2021
Topic Review
TCHH Gene
Trichohyalin: The TCHH gene provides instructions for making a protein called trichohyalin. This protein is primarily found in hair follicles, which are specialized structures in the skin where hair growth occurs.
  • 1.3K
  • 24 Dec 2020
Topic Review
Blepharocheilodontic Syndrome
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).
  • 1.3K
  • 24 Dec 2020
Topic Review
PAX3 Gene
paired box 3
  • 1.3K
  • 25 Dec 2020
Topic Review
TNXB Gene
Tenascin XB: The TNXB gene provides instructions for making a protein called tenascin-X.
  • 1.3K
  • 25 Dec 2020
Topic Review
Histidine-Based Carriers
During the past two decades, there have been significant advances in nucleic acid carriers modified by histidines or histidine-rich domains.  There are several properties of histidines, primarily emanating from their buffering of acidic endosomes, which augment transfection.  These roles from protonated histidines include osmotic swelling with lysis of endosomes, unpacking of the carrier complex, and release of the nucleic acids to enable the carrier to interact with the endosomal membrane.  Histidines or histidine-rich peptides have been incorporated into polymers, conjugated to lipids, phages, and mesoporous silica particles, as well as formed shields around nanoparticles.  These carriers have demonstrated significant potential to import into the cytosol different forms of nucleic acids including plasmids, siRNA, and mRNA. 
  • 1.3K
  • 08 Nov 2020
Topic Review
Dandy-Walker Malformation
Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.
  • 1.3K
  • 24 Dec 2020
Topic Review
Alzheimer Disease
Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.
  • 1.3K
  • 24 Dec 2020
Topic Review
Piebaldism
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair.
  • 1.3K
  • 21 Feb 2021
Topic Review
CA12 Gene
carbonic anhydrase 12
  • 1.3K
  • 24 Dec 2020
Topic Review
Chromosome 12
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs.
  • 1.3K
  • 24 Dec 2020
Topic Review
CARASIL
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.
  • 1.3K
  • 04 Jan 2021
Topic Review
Small Activating RNAs
Small double-strand RNAs (dsRNA) might target promoter regions of genes thereby activating transcription of targets a process known as RNA activation (RNAa). Small activating RNAs (saRNAs) involved in RNAa have been successfully used to activate gene expression in cultured cells as well as in different in vivo models. Thus, this technique might allow to develop various biotechnological applications without the need to synthesize hazardous construct systems harboring exogenous DNA sequences. The recent success of Covid-19 vaccinations is an excellent example of the therapeutic use of RNAs.
  • 1.3K
  • 11 May 2021
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