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Topic Review
APOB Gene
apolipoprotein B
  • 893
  • 24 Dec 2020
Topic Review
X-linked Spondyloepiphyseal Dysplasia Tarda
X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males.
  • 893
  • 24 Dec 2020
Topic Review
Surfactant Dysfunction
Surfactant dysfunction is a lung disorder that causes breathing problems.
  • 892
  • 23 Dec 2020
Topic Review
Refsum Disease
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
  • 892
  • 24 Dec 2020
Topic Review
Bare Lymphocyte Syndrome Type I
Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.
  • 892
  • 24 Dec 2020
Topic Review
C9orf72 Gene
chromosome 9 open reading frame 72
  • 892
  • 24 Dec 2020
Topic Review
Cantú Syndrome
Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.
  • 892
  • 24 Dec 2020
Topic Review
Primary Familial Brain Calcification
Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.
  • 892
  • 24 Dec 2020
Topic Review
FIP1L1 Gene
FIP1 like 1 (S. cerevisiae)
  • 892
  • 25 Dec 2020
Topic Review
PDGFRA Gene
platelet derived growth factor receptor alpha
  • 892
  • 25 Dec 2020
Topic Review
POLG Gene
DNA polymerase gamma, catalytic subunit
  • 892
  • 25 Dec 2020
Topic Review
EARS2 Gene
Glutamyl-tRNA Synthetase 2, Mitochondrial
  • 892
  • 24 Dec 2020
Topic Review
Erythromelalgia
Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.
  • 892
  • 25 Dec 2020
Topic Review
BICD2 Gene
BICD cargo adaptor 2
  • 891
  • 24 Dec 2020
Topic Review
FBN1 Gene
Fibrillin 1: The FBN1 gene provides instructions for making a large protein called fibrillin-1. 
  • 891
  • 25 Dec 2020
Topic Review
RT-qPCR of Aspergillus
Aspergillus is a genus of filamentous fungi with vast geographic and ecological distributions. Species within this genus are clinically, agriculturally and biotechnologically relevant, leading to increasing interest in elucidating gene expression dynamics of key metabolic and physiological processes. Reverse-transcription quantitative Polymerase Chain Reaction (RT-qPCR) is a sensitive and specific method of quantifying gene expression.
  • 891
  • 19 Jul 2021
Topic Review
Niemann–Pick Disease
Niemann–Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and C. NPD type A and B are caused by mutations in the gene SMPD1 coding for sphingomyelin phosphodiesterase 1, with a consequent lack of acid sphingomyelinase activity. These diseases have been thus classified as acid sphingomyelinase deficiencies (ASMDs). NPD type C is a neurologic disorder due to mutations in the genes NPC1 or NPC2, causing a defect of cholesterol trafficking and esterification. Although all three types of NPD can manifest with pulmonary involvement, lung disease occurs more frequently in NPD type B, typically with interstitial lung disease, recurrent pulmonary infections, and respiratory failure.
  • 891
  • 22 Feb 2024
Topic Review
Histone Modifications in Alzheimer’s Disease
Since Late-onset Alzheimer’s disease (LOAD) derives from a combination of genetic variants and environmental factors, epigenetic modifications have been predicted to play a role in the etiopathology of LOAD. Along with DNA methylation, histone modifications have been proposed as the main epigenetic modifications that contribute to the pathologic mechanisms of LOAD.
  • 891
  • 15 May 2023
Topic Review
Gilbert Syndrome
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia).
  • 890
  • 23 Dec 2020
Topic Review
ATM Gene
ATM serine/threonine kinase
  • 890
  • 24 Dec 2020
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