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Topic Review
Hox Gene Expression
Hox genes play key roles in axial patterning and regulating the regional identity of cells and tissues in a wide variety of animals from invertebrates to vertebrates.
  • 1.9K
  • 18 Jan 2022
Topic Review
CTCF and Its Partners in 3D Genome
The 3D genome organization and its dynamic modulate genome function, playing a pivotal role in cell differentiation and development. CCCTC-binding factor (CTCF) and cohesin, acting as the core architectural components involved in chromatin looping and genome folding, can also recruit other protein or RNA partners to fine-tune genome structure during development. Moreover, systematic screening for partners of CTCF has been performed through high-throughput approaches. In particular, several novel protein and RNA partners, such as BHLHE40, WIZ, MAZ, Aire, MyoD, YY1, ZNF143, and Jpx, have been identified, and these partners are mostly implicated in transcriptional regulation and chromatin remodeling, offering a unique opportunity for dissecting their roles in higher-order chromatin organization by collaborating with CTCF and cohesin.
  • 1.9K
  • 26 Aug 2022
Topic Review
Wilson’s Disease
Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to a defective biliary excretion of copper. Subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has specific treatment, so that early diagnosis is crucial in order to avoid the progression of the disease and its devastating consequences. The clinical diagnosis of WD is based on the Leipzig scale, which considers clinical, histological, biochemical and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score result to suffer from other condition that mimics the WD’s phenotype (Wilson-like).
  • 1.9K
  • 22 Sep 2021
Topic Review
Transposable Elements
Transposable elements (TEs) are mobile DNA sequences that can jump from one genomic locus to another and that have colonized the genomes of all living organisms. While TE mobilization is an important source of genomic innovations that greatly contribute to the host species evolution, it is also a major threat to genome integrity that can lead to pathologies.
  • 1.9K
  • 26 May 2022
Topic Review
Cytoplasmic Actin Mutations
Cytoplasmic actins are abundant molecules in non-muscle cells, including white blood cells. Two forms exist which are referred to as beta- or gamma-cytoplasmic actin encoded by ACTB and ACTG1, respectively. They form the building blocks of the dynamic actin polymers of the cytoskeleton that are involved in migration and motility processes of cells. Whereas mutations in cytoplasmic actins have been discovered in congenital diseases, their prevalence in cancer types has not been studied in detail. We show that within hematological cancer cytoplasmic actin mutations occur with higher frequency in two specific subtypes. Beta-actin mutations occur mainly in the subtype diffuse large B-cell lymphoma or DLBCL whereas gamma-actin mutations occur mainly in multiple myeloma. Mapping these mutations on the three dimensional structure reveals they map to regions of actin that are important in actin polymer formation and, for gamma-actin also for myosin interaction. Given their occurrence in these functionally important regions, their role as potential driver mutations or in disease progression merits further investigation.
  • 1.9K
  • 28 Oct 2020
Topic Review
RRM2B-MDS
RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple body systems. It is associated with brain dysfunction combined with muscle weakness (encephalomyopathy). Many affected individuals also have a kidney dysfunction known as renal tubulopathy.
  • 1.9K
  • 04 Jan 2021
Topic Review
Genetic Loci Underlying Awn Morphology in Barley
Awns are a transformed leaf blade that extends from the lemmas of the florets, and can contribute significantly to the grain filling via active photosynthesis. Barley awns are highly diverse in morphology, ranging from long to short or awnless types, and from straight to hooded or crooked shapes. The morphological diversity, importance to grain yield and ease of study of barley awns have intrigued plant geneticists for several decades. A large set of genetic loci associated with the development of awns have been identified genetically and mapped to chromosomes.
  • 1.9K
  • 03 Nov 2021
Topic Review
Primary Hyperoxalurias
Primary hyperoxalurias (PHs) are a group of inherited alterations of the hepatic glyoxylate metabolism. PHs classification based on gene mutations parallel a variety of enzymatic defects, and all involve the harmful accumulation of calcium oxalate crystals that produce systemic damage.
  • 1.9K
  • 18 Feb 2021
Topic Review
Phenylketonuria
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
  • 1.9K
  • 24 Dec 2020
Topic Review
Microsatellite Instability
Microsatellite Instability (MSI) is the hallmark of Lynch syndrome and it was first described in colorectal cancer patients in 1913. Later the definition was broadened and extracolonic tumors have been included.
  • 1.8K
  • 19 Jan 2021
Topic Review
IPEX Syndrome
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome primarily affects males and is caused by problems with the immune system. The immune system normally protects the body from foreign invaders, such as bacteria and viruses, by recognizing and attacking these invaders and clearing them from the body. However, the immune system can malfunction and attack the body's own tissues and organs instead, which is known as autoimmunity. IPEX syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. IPEX syndrome can be life-threatening in early childhood.
  • 1.8K
  • 04 Jan 2021
Topic Review
Xia-Gibbs Syndrome
Xia-Gibbs syndrome is a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development.
  • 1.8K
  • 24 Dec 2020
Topic Review
RAMSVPS
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is a disorder that affects blood vessels in the eyes and heart. The condition generally becomes apparent in infancy or childhood.
  • 1.8K
  • 04 Jan 2021
Topic Review
Epigenetic Changes and Stress-Related Disorders
Stress is defined as a state of threatened or perceived as threatened homeostasis. Emerging evidence suggests that life-stress experiences can alter the epigenetic landscape and impact the function of genes involved in the regulation of stress response. More importantly, epigenetic changes induced by stressors persist over time, leading to increased susceptibility for a number of stress-related disorders.
  • 1.8K
  • 12 Jun 2021
Topic Review
Mammalian Target of Rapamycin
The entry outlines the discovery of mTOR and describes mTOR complex 1 (mTORC1) and mTORC2.
  • 1.8K
  • 26 Oct 2020
Topic Review
Phenotype Variations in Oculocutaneous Albinism
Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination. There are eight OCA types (OCA1–8) documented with non-syndromic characteristics.
  • 1.8K
  • 30 Jun 2022
Topic Review
Alymphoid Cystic Thymic Dysgenesis
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood.
  • 1.8K
  • 04 Jan 2021
Topic Review
Xanthomonas campestris
Xanthomonas campestris pv. campestris (Xcc) is a Gram-negative, aerobic, vascular, and motile bacterium with a single flagellum, which causes the disease identified as black rot in Brassica crops.
  • 1.8K
  • 30 Aug 2021
Topic Review
PiRNAs in Environmentally-Induced Transgenerational Epigenetic Inheritance
The piRNAs correspond to a class of small non-coding RNAs interacting with the PIWI proteins (Piwi, Aub, and Ago3 in Drosophila), belonging to the AGO subfamily proteins, mainly active in animal gonads to protect genome integrity against transposable elements (TEs).
  • 1.8K
  • 07 Feb 2022
Topic Review
LYST Gene
Lysosomal trafficking regulator
  • 1.8K
  • 23 Dec 2020
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