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Topic Review
Androgenetic Alopecia
Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.
  • 1.3K
  • 24 Dec 2020
Topic Review
ARID1B Gene
AT-rich interaction domain 1B
  • 1.3K
  • 24 Dec 2020
Topic Review
16p11.2 Duplication
16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities.
  • 1.3K
  • 23 Dec 2020
Topic Review
Interstitial Telomeric-like Repeats (ITR)
Interstitial telomeric repeat (ITR) sites, also known as interstitial telomeric sequences (ITSs), consist of tandem repeats of telomeric motifs that are located within intrachromosomal regions, including repeats located close to the centromeres and the ones found between the centromeres and the telomeres.
  • 1.3K
  • 10 Dec 2021
Topic Review
Feingold Syndrome
Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.
  • 1.3K
  • 25 Dec 2020
Topic Review
GAN Gene
Gigaxonin
  • 1.3K
  • 25 Dec 2020
Topic Review
TRIP13 Gene
Thyroid hormone receptor interactor 13: The TRIP13 gene provides instructions for making a protein that has several roles in cell division.
  • 1.3K
  • 25 Dec 2020
Topic Review
ALK Gene
ALK receptor tyrosine kinase. The ALK gene provides instructions for making a protein called ALK receptor tyrosine kinase, which is part of a family of proteins called receptor tyrosine kinases (RTKs). 
  • 1.3K
  • 24 Dec 2020
Topic Review
FMO3 Gene
Flavin containing monooxygenase 3
  • 1.3K
  • 25 Dec 2020
Topic Review
Bloom Syndrome
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.
  • 1.3K
  • 24 Dec 2020
Topic Review
HGPPS
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal.
  • 1.3K
  • 04 Jan 2021
Topic Review
Small Nucleolar Derived RNAs as Regulators of Cancer
RNA fragments derived from full-length small nucleolar RNAs (snoRNAs) have been shown to be specifically excised and functional. These sno-derived RNAs (sdRNAs) have been implicated as gene regulators in a multitude of cancers, controlling a variety of genes post-transcriptionally via association with the RNA-induced silencing complex (RISC).
  • 1.3K
  • 31 Aug 2022
Topic Review
PRNP Gene
Prion protein
  • 1.3K
  • 04 Jan 2021
Topic Review
Miller-Dieker Syndrome
Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly.
  • 1.3K
  • 23 Dec 2020
Topic Review
Tumor Heterogeneity in ESCC
Esophageal squamous cell carcinoma (ESCC) is a common and aggressive malignancy, with hitherto dismal clinical outcome. Genomic analyses of patient samples reveal a complex heterogeneous landscape for ESCC, which presents in both intertumor and intratumor forms, manifests at both genomic and epigenomic levels, and contributes significantly to tumor evolution, drug resistance, and metastasis.
  • 1.3K
  • 12 Oct 2021
Topic Review
Familial TAAD
Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.
  • 1.3K
  • 04 Jan 2021
Topic Review
BARD1 Mutations
A catalog of BARD1 germline mutations/pathogenic variants (PVs) identified in large cumulative cohorts of ~48,700 breast cancer (BC) and ~20,800 ovarian cancer (OC) cases prepared based on 123 studies published over 20 years of BARD1 gene screening. By comparing the frequency of BARD1 PVs in the cases and ~134,100 noncancer controls from the gnomAD database, the effect of the BARD1 PVs on BC and OC risks is estimated.  
  • 1.3K
  • 30 Jul 2020
Topic Review
Regulatory SNPs
Regulatory SNPs are genetic variants that associated with various human traits and diseases map to a noncoding part of the genome and are enriched in its regulatory compartment, suggesting that many causal variants may affect gene expression. The leading mechanism of action of these SNPs consists in the alterations in the transcription factor binding via creation or disruption of transcription factor binding sites (TFBSs) or some change in the affinity of these regulatory proteins to their cognate sites.
  • 1.3K
  • 29 Jun 2021
Topic Review
PIGA Gene
phosphatidylinositol glycan anchor biosynthesis class A
  • 1.3K
  • 25 Dec 2020
Topic Review
Autosomal Recessive Congenital Methemoglobinemia
Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).
  • 1.3K
  • 24 Dec 2020
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