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Topic Review
Aceruloplasminemia
Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.
  • 995
  • 23 Dec 2020
Topic Review
Central Precocious Puberty
Central precocious puberty is a condition that causes early sexual development in girls and boys.
  • 995
  • 20 Apr 2023
Topic Review
GCK Gene
Glucokinase
  • 995
  • 25 Dec 2020
Topic Review
ABL1 Gene
ABL proto-oncogene 1, non-receptor tyrosine kinase
  • 993
  • 24 Dec 2020
Topic Review
Protein Variants in Cancer-Related Genes
Large scale genome sequencing allowed the identification of a massive number of genetic variations, whose impact on human health is still unknown. In this entry we analyze, by an in silico-based strategy, the impact of missense variants on cancer-related genes, whose effect on protein stability and function was experimentally determined. We collected a set of 164 variants from 11 proteins to analyze the impact of missense mutations at structural and functional levels, and to assess the performance of state-of-the-art methods (FoldX and Meta-SNP) for predicting protein stability change and pathogenicity. 
  • 993
  • 22 Sep 2021
Topic Review
NCF1 Gene
neutrophil cytosolic factor 1
  • 992
  • 23 Dec 2020
Topic Review
Pachyonychia Congenita
Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.
  • 992
  • 24 Dec 2020
Topic Review
Constitutional Mismatch Repair Deficiency Syndrome
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare disorder that greatly increases the risk of developing one or more types of cancer in children and young adults. The cancers that most commonly occur in CMMRD syndrome are cancers of the colon (large intestine) and rectum (collectively referred to as colorectal cancer), brain, and blood (leukemia or lymphoma).
  • 992
  • 24 Dec 2020
Topic Review
BRCA2 Gene
BRCA2, DNA repair associated
  • 992
  • 24 Dec 2020
Topic Review
Progressive Pseudorheumatoid Dysplasia
Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD.
  • 992
  • 24 Dec 2020
Topic Review
Epidermolytic Hyperkeratosis
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).
  • 992
  • 25 Dec 2020
Topic Review
COL4A1-Related Brain Small-Vessel Disease
COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. People with COL4A1-related brain small vessel disease also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras.
  • 991
  • 24 Dec 2020
Topic Review
X-linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males.
  • 991
  • 24 Dec 2020
Topic Review
Schizoaffective Disorder
Schizoaffective disorder is a mental health condition that includes features of both schizophrenia and a mood disorder such as bipolar disorder or depression.
  • 991
  • 24 Dec 2020
Topic Review
POGZ Gene
pogo transposable element derived with ZNF domain
  • 991
  • 25 Dec 2020
Topic Review
Immune Gene Rearrangements
The tremendous diversity of the human immune repertoire, fundamental for the defense against highly heterogeneous pathogens, is based on the ingenious mechanism of immune gene rearrangements. Rearranged immune genes encoding the immunoglobulins and T-cell receptors and thus determining each lymphocyte’s antigen specificity are very valuable molecular markers for tracing malignant or physiological lymphocytes. One of their most significant applications is tracking residual leukemic cells in patients with lymphoid malignancies. This so called ‘minimal residual disease’ (MRD) has been shown to be the most important prognostic factor across various leukemia subtypes and has therefore been given enormous attention. 
  • 991
  • 12 Jul 2021
Topic Review
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant genetic disorder associated with an increased lifetime risk of developing colorectal cancer (CRC) (30–73%), endometrial carcinoma (EC) (30–51%) and, less frequently, other malignancies such as gastric, ovarian, urinary tract, pancreatic, small bowel, biliary tract, brain, and skin sebaceous cancers.
  • 991
  • 27 Mar 2023
Topic Review
Gene Therapy for Corneal Diseases
One of the most remarkable advancements in medical treatments of corneal diseases in recent decades has been corneal transplantation. Corneal defects and diseases are one of the leading causes of blindness globally; therefore, there is a need for gene-based interventions that may mitigate some of these challenges and help reduce the burden of blindness. Corneas being immune-advantaged, uniquely avascular, and transparent is ideal for gene therapy approaches.
  • 991
  • 13 Jul 2023
Topic Review
Glucose-Galactose Malabsorption
Glucose-galactose malabsorption is a condition in which the body cannot take in (absorb) the sugars glucose and galactose, which primarily results in severe diarrhea.
  • 990
  • 23 Dec 2020
Topic Review
Vici Syndrome
Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected.  
  • 990
  • 23 Dec 2020
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