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Topic Review
Evolution of TFs and Enhancers
Adaptive immunity relies on the V(D)J DNA recombination of immunoglobulin (Ig) and T cell receptor (TCR) genes, which enables the recognition of highly diverse antigens and the elicitation of antigen-specific immune responses. This process is mediated by recombination-activating gene (Rag) 1 and Rag2 (Rag1/2), whose expression is strictly controlled in a cell type-specific manner; the expression of Rag1/2 genes represents a hallmark of lymphoid lineage commitment. Although Rag genes are known to be evolutionally conserved among jawed vertebrates, how Rag genes are regulated by lineage-specific transcription factors (TFs) and how their regulatory system evolved among vertebrates have not been fully elucidated. Here, we review the current body of knowledge concerning the cis-regulatory elements (CREs) of Rag genes and the evolution of the basic helix-loop-helix TF E protein regulating Rag gene CREs, as well as the evolution of the antagonist of this protein, the Id protein. This may help to understand how the adaptive immune system develops along with the evolution of responsible TFs and enhancers. 
  • 1.2K
  • 09 Jun 2021
Topic Review
Ischemic Stroke Genetics
The etiology of ischemic stroke is multifactorial. Although receiving less emphasis, genetic causes make a significant contribution to ischemic stroke genesis, especially in early-onset stroke. Several stroke classification systems based on genetic information corresponding to various stroke phenotypes were proposed. Twin and family history studies, as well as candidate gene approach, are common methods to discover genetic causes of stroke, however, both have their own limitations. Genome-wide association studies and next generation sequencing are more efficient, promising and increasingly used for daily diagnostics. Some monogenic disorders, despite covering only about 7% of stroke etiology, may cause well-known clinical manifestations that include stroke. Polygenic disorders are more frequent, causing about 38% of all ischemic strokes, and their identification is a rapidly developing field of modern stroke genetics. Current advances in human genetics provide opportunity for personalized prevention of stroke and novel treatment possibilities. Genetic risk scores (GRS) and extended polygenic risk scores (PRS) estimate cumulative contribution of known genetic factors to a specific outcome of stroke. Combining those scores with clinical information and risk factor profiles might result in better primary stroke prevention. Some authors encourage the use of stroke gene panels for stroke risk evaluation and further stroke research. Moreover, new biomarkers for stroke genetic causes and novel targets for gene therapy are on the horizon.
  • 1.2K
  • 14 Jan 2022
Topic Review
Juvenile Primary Lateral Sclerosis
Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.
  • 1.2K
  • 23 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). 
  • 1.2K
  • 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
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
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
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
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
ASPA Gene
aspartoacylase
  • 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
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
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
DSP Gene
Desmoplakin: The DSP gene provides instructions for making a protein called desmoplakin. 
  • 1.1K
  • 24 Dec 2020
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
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
Topic Review
HBA1 Gene
Hemoglobin subunit alpha 1
  • 1.1K
  • 22 Dec 2020
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