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Topic Review
KCNE1 Gene
Potassium voltage-gated channel subfamily E regulatory subunit 1
  • 600
  • 23 Dec 2020
Topic Review
KRT16 Gene
Keratin 16
  • 600
  • 23 Dec 2020
Topic Review
SCN10A Gene
sodium voltage-gated channel alpha subunit 10
  • 600
  • 24 Dec 2020
Topic Review
DPY19L2 Gene
Dpy-19 Like 2
  • 600
  • 24 Dec 2020
Topic Review
Hypomyelination and Congenital Cataract
Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes.
  • 599
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type VII
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.
  • 599
  • 23 Dec 2020
Topic Review
HLA-DQA1 Gene
Major histocompatibility complex, class II, DQ alpha 1
  • 597
  • 22 Dec 2020
Topic Review
RNA Biomarkers and Bipolar Disorder
Bipolar disorder (BD) is a severe chronic disorder that represents one of the main causes of disability among young people. To date, no reliable biomarkers are available to inform the diagnosis of BD or clinical response to pharmacological treatment. Studies focused on coding and noncoding transcripts may provide information complementary to genome-wide association studies, allowing to correlate the dynamic evolution of different types of RNAs based on specific cell types and developmental stage with disease development or clinical course. 
  • 597
  • 13 Jul 2023
Topic Review
Applications of Azanucleoside Analogs as DNA Demethylating Agents
Azanucleosides, such as 5-azacytidine and decitabine, are DNA demethylating agents used in the treatment of acute myeloid leukemia and myelodysplastic syndromes.
  • 594
  • 23 Jul 2023
Topic Review
Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
Niemann–Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathognomonic metabolites.
  • 591
  • 25 Mar 2024
Topic Review
TWIST1 Gene
Twist family bHLH transcription factor 1.
  • 590
  • 23 Dec 2020
Topic Review
Hepatic Veno-Occlusive Disease with Immunodeficiency
Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.
  • 590
  • 23 Dec 2020
Topic Review
Relevance of Genetic Identification in Natural Catastrophes
Different types of catastrophes, including from natural causes, armed conflicts and different acts of terrorism, lead not only to movement and disappearance but also to the death of civilians, demanding a prompt and effective response concerning the identification and delivery of individuals to their families.
  • 590
  • 14 Jul 2023
Topic Review
TSEN34 Gene
tRNA splicing endonuclease subunit 34
  • 589
  • 22 Dec 2020
Topic Review
Role of PAX7 in Muscular Dystrophies
Myogenesis is a series of progressive development of skeletal muscle tissue over a lifetime where myoblasts, the early mononucleated committed precursor cells of skeletal muscle fuse together and differentiate into myotubes, the multinucleated muscle cells that later undergo further differentiation and fusion to form myofibers. Myoblast heterogeneity stems from three types of myoblasts: embryonic, fetal, and adult myoblasts with distinct genetic backgrounds that are traditionally distinguished by desmin, myogenin (MyoG), and myosin heavy chain isoform (MyHC) expression. These myoblast transitions are thought to overlap at multiple points during myogenesis, due to the activation of several factors. Four myogenic regulatory factors (MRF), Myogenic factor 5 (Myf5), Mrf4, Myogenic Differentiation 1 (MyoD), and MyoG play critical roles in the precise differentiation of progenitor myoblasts into myofibers during embryonic-to-adult myogenesis. Pax7 is closely associated with myogenesis, which is governed by various signaling pathways throughout a lifetime and is frequently used as an indicator in muscle research. 
  • 588
  • 11 Sep 2023
Topic Review
KCNJ1 Gene
Potassium voltage-gated channel subfamily J member 1
  • 587
  • 23 Dec 2020
Topic Review
Huntington Disease-Like Syndrome
As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease.
  • 586
  • 23 Dec 2020
Topic Review
MYO7A Gene
myosin VIIA
  • 585
  • 23 Dec 2020
Topic Review
KIF21A Gene
Kinesin family member 21A
  • 585
  • 23 Dec 2020
Topic Review
CYBB Gene
Cytochrome B-245 Beta Chain: The CYBB gene provides instructions for making a protein called cytochrome b-245, beta chain (also known as p91-phox).
  • 583
  • 23 Dec 2020
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