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Topic Review
Erdheim-Chester Disease
Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.
  • 864
  • 25 Dec 2020
Topic Review
FZD6 Gene
Frizzled class receptor 6
  • 864
  • 25 Dec 2020
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
  • 864
  • 10 Aug 2021
Topic Review
MT-TL1 Gene
mitochondrially encoded tRNA leucine 1 (UUA/G)
  • 863
  • 23 Dec 2020
Topic Review
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML).
  • 863
  • 23 Dec 2020
Topic Review
3-hydroxyacyl-CoA Dehydrogenase Deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).
  • 863
  • 23 Dec 2020
Topic Review
Lacrimo-Auriculo-Dento-Digital Syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).
  • 863
  • 23 Dec 2020
Topic Review
RNAse T2-Deficient Leukoencephalopathy
RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with RNAse T2-deficient leukoencephalopathy have neurological problems that become apparent during infancy; the problems generally do not worsen over time (progress).
  • 863
  • 04 Apr 2021
Topic Review
HDAC8 Gene
Histone deacetylase 8
  • 862
  • 22 Dec 2020
Topic Review
Léri-Weill Dyschondrosteosis
Léri-Weill dyschondrosteosis is a disorder of bone growth.
  • 862
  • 24 Dec 2020
Topic Review
FANCG Gene
FA complementation group G
  • 862
  • 25 Dec 2020
Topic Review
Dystonia 16
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.
  • 862
  • 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.
  • 861
  • 23 Dec 2020
Topic Review
Pyridoxal 5'-Phosphate-Dependent Epilepsy
Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions.
  • 861
  • 24 Dec 2020
Topic Review
Citrullinemia
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.
  • 861
  • 24 Dec 2020
Topic Review
CNGA3 Gene
cyclic nucleotide gated channel alpha 3
  • 861
  • 24 Dec 2020
Topic Review
GALE Gene
UDP-galactose-4-epimerase
  • 861
  • 25 Dec 2020
Topic Review
PGAP2 Gene
post-GPI attachment to proteins 2
  • 861
  • 25 Dec 2020
Topic Review
FOXL2-Related Epicanthus Inversus Syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. 
  • 861
  • 16 Mar 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. 
  • 861
  • 27 Nov 2021
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