Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
Blau Syndrome
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
  • 948
  • 24 Dec 2020
Topic Review
Combined Malonic and Methylmalonic Mciduria
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.
  • 947
  • 24 Dec 2020
Topic Review
GJB6 Gene
Gap junction protein beta 6
  • 947
  • 25 Dec 2020
Topic Review
TRPM4 Gene
Transient receptor potential cation channel subfamily M member 4: The TRPM4 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 4 (TRPM4). 
  • 947
  • 25 Dec 2020
Topic Review
Recent Advances in Syndactyly
Syndactyly (SD) is a congenital digital malformation characterized by webbing of the fingers and toes. Syndactyly is derived from the Greek word “syn”, meaning together, and “dactylos”, meaning digits. It is one of the most common hereditary limb disorders, with a prevalence of 3–10 in every 10,000 births, although higher estimates in the range of 10–40/10,000 have been reported.
  • 947
  • 24 Jun 2022
Topic Review
Intestinal Pseudo-Obstruction
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract.
  • 947
  • 23 Dec 2020
Topic Review
Meier-Gorlin Syndrome
Meier-Gorlin syndrome is a condition primarily characterized by short stature.
  • 946
  • 23 Dec 2020
Topic Review
CASR Gene
calcium sensing receptor
  • 946
  • 24 Dec 2020
Topic Review
Familial Lipoprotein Lipase Deficiency
Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.
  • 946
  • 25 Dec 2020
Topic Review
LINC00493/SMIM26 and Its Dual Functioning
In the present study, we investigate the widely expressed lncRNA LINC00493. We determine the structure of the LINC00493 transcript, its cell localization and influence on cell physiology. Our data demonstrate that LINC00493 has an influence on cell viability in a cell-type-specific manner. Furthermore, it was recently shown that LINC00493 has a sORF that is translated into small protein SMIM26. The results of our knockdown and overexpression experiments suggest that both LINC00493/SMIM26 transcript and protein affect cell viability, but in the opposite manner. 
  • 946
  • 20 Aug 2021
Topic Review
Ohdo Syndrome, Maat-Kievit-Brunner Type
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
  • 945
  • 24 Dec 2020
Topic Review
SLC4A1 Gene
solute carrier family 4 member 1 (Diego blood group)
  • 945
  • 24 Dec 2020
Topic Review
FOXG1 Gene
Forkhead box G1
  • 945
  • 25 Dec 2020
Topic Review
Short-Chain Acyl-CoA Dehydrogenase Deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
  • 945
  • 25 Dec 2020
Topic Review
Epigenetics of Aging
Aging represents the multifactorial decline in physiological function of every living organism. Over the past decades, several hallmarks of aging have been defined, including epigenetic deregulation. Indeed, multiple epigenetic events were found altered across different species during aging. Epigenetic changes directly contributing to aging and aging-related diseases include the accumulation of histone variants, changes in chromatin accessibility, loss of histones and heterochromatin, aberrant histone modifications, and deregulated expression/activity of miRNAs. As a consequence, cellular processes are affected, which results in the development or progression of several human pathologies, including cancer, diabetes, osteoporosis, and neurodegenerative disorders.
  • 944
  • 13 Jan 2021
Topic Review
Difficulties in Kinship Analysis in Armed Conflicts
Regarding human identification in armed conflicts, various complications can be observed. Usually, such difficulties can be social-related, which can include the lack of access to the relative’s genetic material, or the unwillingness of administrative and judicial authorities to participate in the process of identification. In the case of genetics, the analysis allows identifying the individual from a blood sample, a part of an organ, or from skeletal remains, which is why it is considered a much more extensive and effective method when compared with fingerprint techniques or odontology. However, several factors can prevent this identification, such as considerably degraded genetic material. For successful identification, it is mandatory to have access to antemortem biological samples unequivocally attributed to the individual in question, using recombinant nuclear markers, as well as using biological samples from close relatives, whether parents or sons. Nevertheless, the problems associated with armed conflicts make this type of study very difficult.
  • 944
  • 05 Jun 2023
Topic Review
Up-Frameshift Protein 1 in Human Disorders
Up-frameshift protein 1 (UPF1) plays the role of a vital controller for transcripts, ready to react in the event of an incorrect translation mechanism. It is well known as one of the key elements involved in mRNA decay pathways and participates in transcript and protein quality control in several different aspects. Firstly, UPF1 specifically degrades premature termination codon (PTC)-containing products in a nonsense-mediated mRNA decay (NMD)-coupled manner. Additionally, UPF1 can potentially act as an E3 ligase and degrade target proteins independently from mRNA decay pathways. Thus, UPF1 protects cells against the accumulation of misfolded polypeptides. However, this multitasking protein may still hide many of its functions and abilities.
  • 944
  • 18 May 2023
Topic Review
BDNF Gene
brain derived neurotrophic factor
  • 943
  • 24 Dec 2020
Topic Review
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis).
  • 943
  • 24 Dec 2020
Topic Review
Scalp-Ear-Nipple Syndrome
Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by abnormalities of the scalp, ears, and nipples. Less frequently, affected individuals have problems affecting other parts of the body. The features of this disorder can vary even within the same family.
  • 943
  • 24 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback