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Topic Review
LncRNAs in Alzheimer’s Disease
One of the most compelling needs in the study of Alzheimer’s disease (AD) is the characterization of cognitive decline peripheral biomarkers. In this context, the theme of altered RNA processing has emerged as a contributing factor to AD. In particular, the significant role of long non-coding RNAs (lncRNAs) associated to AD is opening new perspectives in AD research. This class of RNAs may offer numerous starting points for new investigations about pathogenic mechanisms and, in particular, about peripheral biomarkers. Indeed, altered lncRNA signatures are emerging as potential diagnostic biomarkers
  • 850
  • 10 Aug 2021
Topic Review
Genetics of Plasma LDL-c Levels (i): Monogenicity
Changes in plasma low-density lipoprotein cholesterol (LDL-c) levels relate to a high risk of developing some common and complex diseases. LDL-c, as a quantitative trait, is multifactorial and depends on both genetic and environmental factors. In the pregenomic age, targeted genes were used to detect genetic factors in both hyper- and hypolipidemias, but this approach only explained extreme cases in the population distribution. Subsequently, the genetic basis of the less severe and most common dyslipidemias remained unknown. In the genomic age, performing whole-exome sequencing in families with extreme plasma LDL-c values identified some new candidate genes, but it is unlikely that such genes can explain the majority of inexplicable cases. Genome-wide association studies (GWASs) have identified several single-nucleotide variants (SNVs) associated with plasma LDL-c, introducing the idea of a polygenic origin. Polygenic risk scores (PRSs), including LDL-c-raising alleles, were developed to measure the contribution of the accumulation of small-effect variants to plasma LDL-c. 
  • 850
  • 27 Nov 2021
Topic Review
Instability of Non-Standard Microsatellites
Elevated microsatellite alterations at selected tetranucleotide (EMAST) repeats are a genetic signature of colorectal cancers and are caused by somatic dysfunction of the DNA mismatch repair (MMR) protein MutS Homolog 3 (MSH3). There are very few data showing the relation of EMAST presence in the genome with the response to treatment, and there is no information about the metastatic setting. To the best of our knowledge, this is the first study evaluating the correlation between EMAST and response to treatment with chemotherapy or chemotherapy plus bevacizumab in metastatic colorectal cancer (mCRC).  
  • 849
  • 30 Oct 2020
Topic Review
Melnick-Needles Syndrome
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems.
  • 849
  • 23 Dec 2020
Topic Review
Transthyretin Amyloidosis
Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues.
  • 849
  • 23 Dec 2020
Topic Review
ABCB4 Gene
ATP binding cassette subfamily B member 4
  • 849
  • 24 Dec 2020
Topic Review
Familial Atrial Fibrillation
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm.
  • 849
  • 25 Dec 2020
Topic Review
CLN8 Disease
CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy.
  • 849
  • 05 Apr 2021
Topic Review
Hereditary Pancreatitis
Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis).
  • 848
  • 23 Dec 2020
Topic Review
INSR Gene
Insulin receptor
  • 848
  • 23 Dec 2020
Topic Review
PEX7 Gene
peroxisomal biogenesis factor 7
  • 848
  • 25 Dec 2020
Topic Review
Hashimoto Thyroiditis
Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck.
  • 847
  • 23 Dec 2020
Topic Review
CYP27B1 Gene
Cytochrome P450 Family 27 Subfamily B Member 1: The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1α-hydroxylase). 
  • 847
  • 23 Dec 2020
Topic Review
Chediak-Higashi Syndrome
Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.
  • 847
  • 24 Dec 2020
Topic Review
TCF4 Gene
Transcription factor 4: The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes.
  • 847
  • 24 Dec 2020
Topic Review
Congenital Stromal Corneal Dystrophy
Congenital stromal corneal dystrophy is an inherited eye disorder.
  • 847
  • 24 Dec 2020
Topic Review
DUX4 Gene
Double Homeobox 4
  • 847
  • 24 Dec 2020
Topic Review
CEBPA Gene
CCAAT enhancer binding protein alpha
  • 847
  • 24 Dec 2020
Topic Review
SDHC Gene
succinate dehydrogenase complex subunit C
  • 847
  • 24 Dec 2020
Topic Review
DYSF Gene
Dysferlin: The DYSF gene provides instructions for making a protein called dysferlin. 
  • 847
  • 24 Dec 2020
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