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Topic Review
Axenfeld-Rieger Syndrome
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.
  • 1.2K
  • 24 Dec 2020
Topic Review
CA12 Gene
carbonic anhydrase 12
  • 1.2K
  • 24 Dec 2020
Topic Review
Bowen-Conradi Syndrome
Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.
  • 1.2K
  • 24 Dec 2020
Topic Review
Complete PAI-1 Deficiency
Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 deficiency) is a disorder that causes abnormal bleeding. In people with this disorder, bleeding associated with injury can be excessive and last longer than usual.
  • 1.2K
  • 04 Jan 2021
Topic Review
1p36 Deletion Syndrome
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
  • 1.2K
  • 25 Dec 2020
Topic Review
Aarskog-Scott syndrome
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.
  • 1.2K
  • 23 Dec 2020
Topic Review
Chromosome 12
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs.
  • 1.2K
  • 24 Dec 2020
Topic Review
PAH Gene
phenylalanine hydroxylase
  • 1.2K
  • 25 Dec 2020
Topic Review
ATR-X Syndrome
Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.
  • 1.2K
  • 04 Jan 2021
Topic Review
Structure and Function of UHRF1
Cancer is one of the leading causes of death worldwide, and its incidence and mortality are increasing each year. Improved therapeutic strategies against cancer have progressed, but remain insufficient to invert this trend. Along with several other risk factors, abnormal genetic and epigenetic regulations play a critical role in the initiation of cellular transformation, as well as tumorigenesis. The epigenetic regulator UHRF1 (ubiquitin-like, containing PHD and RING finger domains 1) is a multidomain protein with oncogenic abilities overexpressed in most cancers. Through the coordination of its multiple domains and other epigenetic key players, UHRF1 regulates DNA methylation and histone modifications. This well-coordinated dialogue leads to the silencing of tumor-suppressor genes (TSGs) and facilitates tumor cells’ resistance toward anticancer drugs, ultimately promoting apoptosis escape and uncontrolled proliferation. Several studies have shown that the downregulation of UHRF1 with natural compounds in tumor cells induces the reactivation of various TSGs, inhibits cell growth, and promotes apoptosis.
  • 1.2K
  • 24 Aug 2023
Topic Review
Cri-du-chat Syndrome
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat.
  • 1.2K
  • 24 Dec 2020
Topic Review
Sickle Cell Disease
Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disease have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
  • 1.2K
  • 04 Jan 2021
Topic Review
LEP Gene
leptin
  • 1.2K
  • 04 Jan 2021
Topic Review
Small Activating RNAs
Small double-strand RNAs (dsRNA) might target promoter regions of genes thereby activating transcription of targets a process known as RNA activation (RNAa). Small activating RNAs (saRNAs) involved in RNAa have been successfully used to activate gene expression in cultured cells as well as in different in vivo models. Thus, this technique might allow to develop various biotechnological applications without the need to synthesize hazardous construct systems harboring exogenous DNA sequences. The recent success of Covid-19 vaccinations is an excellent example of the therapeutic use of RNAs.
  • 1.2K
  • 11 May 2021
Topic Review
Escherichia coli-Caused Blood–Brain Barrier Disruption
Brain microvascular endothelial cells (BMECs) constitute the structural and functional basis for the blood–brain barrier (BBB) and play essential roles in bacterial meningitis. Electrical cell-substrate impedance sensing (ECIS) measurement and Western blot assay demonstrated lncRSPH9-4 overexpression in hBMECs mediated the BBB integrity disruption.
  • 1.2K
  • 18 Jun 2021
Topic Review
Bohring-Opitz Syndrome
Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.
  • 1.2K
  • 24 Dec 2020
Topic Review
Monoamine Oxidase A Deficiency
Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively in males. It is characterized by mild intellectual disability and behavioral problems beginning in early childhood.
  • 1.2K
  • 23 Dec 2020
Topic Review
Shingles
Shingles (also known as herpes zoster) results from infection by the varicella zoster virus.
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  • 25 Dec 2020
Topic Review
Roles of Werner Syndrome
WRN, the gene responsible for the premature aging associated with Werner syndrome (WS), was identified. Research on genes that suppress aging has been conducted worldwide. During this time, many researchers have participated in these investigations, and it has been established that the protein encoded by WRN is an ATPase activated by single-stranded DNA with DNA unwinding activity in the 3′ to 5′ direction, and that it performs a unique 3′ to 5′ exonuclease activity not observed in other RecQ family members, interacts with a great variety of DNA metabolic proteins, and that it is involved in replication, repair, recombination, transcription, and histone modifications to maintain chromosome stability from the base sequence level to the chromatin level. Within the enzymes/proteins that play crucial roles in these chromosomal events, the WRN helicase plays a fine-tuning role as a supporter. Its functional abnormalities induce chromosomal instability. Abnormal DNA structures accumulated in chromosomes and changes in gene expression profiles caused by epigenetic and transcriptional abnormalities lead to systemic disruption of cellular functions (For example, loss of protein homeostasis, mitochondrial dysfunction, shortened mitotic lifespan, impaired differentiation) and manifest as symptoms such as premature aging.
  • 1.2K
  • 17 Oct 2022
Topic Review
Child and Adolescent Obesity
Child and adolescent obesity constitute one of the greatest contemporary public health menaces. The enduring disproportion between calorie intake and energy consumption, determined by a complex interaction of genetic, epigenetic, and environmental factors, finally leads to the development of overweight and obesity. Child and adolescent overweight/obesity promotes smoldering systemic inflammation (“para-inflammation”) and increases the likelihood of later metabolic and cardiovascular complications, including metabolic syndrome and its components, which progressively deteriorate during adulthood. Exosomes are endosome-derived extracellular vesicles that are secreted by a variety of cells, are naturally taken-up by target cells, and may be involved in many physiological and pathological processes. Over the last decade, intensive research has been conducted regarding the special role of exosomes and the non-coding (nc) RNAs they contain (primarily micro (mi) RNAs, long (l) non-coding RNAs, messenger (m) RNAs and other molecules) in inter-cellular communications. Through their action as communication mediators, exosomes may contribute to the pathogenesis of obesity and associated disorders. There is increasing evidence that exosomal miRNAs and lncRNAs are involved in pivotal processes of adipocyte biology and that, possibly, play important roles in gene regulation linked to human obesity. 
  • 1.2K
  • 14 Apr 2021
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