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Topic Review
Chromosomal Rearrangements in Yeast
Chromosomal rearrangements comprise unbalanced structural variations resulting in gain or loss of DNA copy numbers, as well as balanced events including translocation and inversion that are copy number neutral, both of which contribute to phenotypic evolution in organisms. The exquisite genetic assay and gene editing tools available for the model organism Saccharomyces cerevisiae facilitate deep exploration of the mechanisms underlying chromosomal rearrangements.
  • 1.2K
  • 21 Feb 2021
Topic Review
ADAMTS Proteins and Vascular Remodeling in Aortic Aneurysms
Extracellular matrix (ECM) undergoes remodeling processes to regulate vascular smooth muscle and endothelial cells’ proliferation, differentiation, and adhesion. Abnormalities affecting the ECM can lead to alteration in cellular behavior and from this, this can conduce to the development of pathologies. Metalloproteases play a key role in maintaining the homeostasis of ECM by mediating the cleavage of different ECM components. There are different types of metalloproteases: matrix metalloproteinases (MMPs), disintegrin and metalloproteinases (ADAMs), and ADAMs with thrombospondin motifs (ADAMTSs). ADAMTSs have been found to participate in cardiovascular physiology and diseases and specifically in aortic aneurysms. This entry aims to decipher the potential role of ADAMTS proteins in the physiopathologic development of Thoracic Aortic Aneurysms (TAA) and Abdominal Aortic Aneurysms (AAA).
  • 1.2K
  • 12 Jan 2022
Topic Review
Marker-Assisted Selection in Breeding for Fruit Trait Improvement
Fruit species breeding takes a lot of effort and time. Trees are probably the worst species to work with in terms of genetics and breeding, with very few exceptions. Large trees, protracted juvenile phases, intensive farming methods, and, despite vegetatively propagation, environmental variability play a significant role in the heritability assessments of each individual important trait. Fruit breeders frequently focus on traits specific to each species, including size, weight, sugar and acid content, ripening time, fruit storability, and post-harvest procedures. Tens of thousands of fruit genomes could be mined for sequence variants that could serve as molecular markers thanks to the availability of powerful software tools and updated sequencing techniques.
  • 1.1K
  • 05 Jun 2023
Topic Review
X-linked Sideroblastic Anemia
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood.
  • 1.1K
  • 24 Dec 2020
Topic Review
TP63 Gene
Tumor protein p63: The TP63 gene provides instructions for making a protein called tumor protein p63 (also known simply as p63). 
  • 1.1K
  • 25 Dec 2020
Topic Review
Cockayne Syndrome
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
  • 1.1K
  • 24 Dec 2020
Topic Review
Ataxia Neuropathy Spectrum
Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).
  • 1.1K
  • 24 Dec 2020
Topic Review
ASPA Gene
aspartoacylase
  • 1.1K
  • 24 Dec 2020
Topic Review
X-linked Chondrodysplasia Punctata 1
X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage.
  • 1.1K
  • 24 Dec 2020
Topic Review
CTNNB1 Gene
catenin beta 1
  • 1.1K
  • 24 Dec 2020
Topic Review
Prion Disease
Prion disease represents a group of conditions that affect the nervous system in humans and animals.
  • 1.1K
  • 04 Jan 2021
Topic Review
BCOR Gene
BCL6 corepressor
  • 1.1K
  • 24 Dec 2020
Topic Review
Carpenter Syndrome
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.
  • 1.1K
  • 24 Dec 2020
Topic Review
Familial Hemiplegic Migraine
Familial hemiplegic migraine is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.
  • 1.1K
  • 25 Dec 2020
Topic Review
DSP Gene
Desmoplakin: The DSP gene provides instructions for making a protein called desmoplakin. 
  • 1.1K
  • 24 Dec 2020
Topic Review
Single-Cell RNA Sequencing in eQTL Discovery
Genome-wide association studies have successfully mapped thousands of loci associated with complex traits. During the last decade, functional genomics approaches combining genotype information with bulk RNA-sequencing data have identified genes regulated by GWAS loci through expression quantitative trait locus (eQTL) analysis. eQTLs are divided into two types: cis- and trans-: cis-eQTLs are the genomic sequence variants located within a distance cutoff (for example, 1Mb upstream or downstream) of a target gene (the ‘eGene’) (a gene that has an associated eQTL) and correlate with its expression.  Single-cell RNA-Sequencing (scRNA-Seq) technologies have created new exciting opportunities for spatiotemporal assessment of changes in gene expression at the single-cell level in complex and inherited conditions.
  • 1.1K
  • 28 Mar 2022
Topic Review
Mayer-Rokitansky-Küster-Hauser Syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system.
  • 1.1K
  • 23 Dec 2020
Topic Review
X-linked Intellectual Disability, Siderius Type
X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed.  
  • 1.1K
  • 24 Dec 2020
Topic Review
Pharmacogenomics
Pharmacogenomics (PGx) is the knowledge of diverse drug responses and effects in people, based on their genomic profiles.
  • 1.1K
  • 04 Jan 2021
Topic Review
Suprabasin
Among the ~22,000 human genes, very few remain that have unknown functions. One such ex-ample is suprabasin (SBSN). Originally described as a component of the cornified envelope, the function of stratified epithelia-expressed SBSN is unknown. Both the lack of knowledge about the gene role under physiological conditions and the emerging link of SBSN to various human diseas-es, including cancer, attract research interest. The association of SBSN expression with poor prognosis of patients suffering from oesophageal carcinoma, glioblastoma multiforme, and myel-odysplastic syndromes suggests that SBSN may play a role in human tumourigenesis. Three SBSN isoforms code for the secreted proteins with putative function as signalling molecules, yet with poorly described effects.
  • 1.1K
  • 03 Feb 2021
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