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Topic Review
ABCA1 Gene
ATP binding cassette subfamily A member 1
  • 824
  • 24 Dec 2020
Topic Review
LTBP4 in Health and Disease
Latent transforming growth factor β (TGFβ)-binding protein (LTBP) 4, a member of the LTBP family, shows structural homology with fibrillins. Both these protein types are characterized by calcium-binding epidermal growth factor-like repeats interspersed with 8-cysteine domains. Based on its domain composition and distribution, LTBP4 is thought to adopt an extended structure, facilitating the linear deposition of tropoelastin onto microfibrils. In humans, mutations in LTBP4 result in autosomal recessive cutis laxa type 1C, characterized by redundant skin, pulmonary emphysema, and valvular heart disease. LTBP4 is an essential regulator of TGFβ signaling and is related to development, immunity, injury repair, and diseases, playing a central role in regulating inflammation, fibrosis, and cancer progression.
  • 824
  • 07 Jun 2021
Topic Review
Chloroplast DNA Barcodes
DNA barcodes are standardized sequences, ideally unique, coding or non-coding, either from the genome of the organism or from its organelles, that are used to identify/classify an organismal group; in short, the method includes amplification of the DNA barcode, sequencing and comparison with a reference database containing the relevant sequences from different species. In plants, the use a universal DNA barcode, such as COI, which is used in animals, has not been achieved so far. 
  • 824
  • 19 Feb 2024
Topic Review
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.  
  • 823
  • 23 Dec 2020
Topic Review
2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).
  • 823
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type IV
Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.
  • 823
  • 23 Dec 2020
Topic Review
NLRP3 Gene
NLR family pyrin domain containing 3
  • 823
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.
  • 823
  • 23 Dec 2020
Topic Review
DUOX2 Gene
Dual Oxidase 2: The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. 
  • 823
  • 24 Dec 2020
Topic Review
Schwannomatosis
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves.
  • 823
  • 24 Dec 2020
Topic Review
Protein C Deficiency
Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.
  • 823
  • 24 Dec 2020
Topic Review
FOXP2-related Speech and Language Sisorder
FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals have a speech problem known as apraxia, which makes it difficult to produce sequences of sounds, syllables, and words.
  • 823
  • 25 Dec 2020
Topic Review
Fish-eye Disease
Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy.
  • 823
  • 25 Dec 2020
Topic Review
Primary Spontaneous Pneumothorax
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.
  • 823
  • 04 Jan 2021
Topic Review
Hajdu-Cheney Syndrome
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones.
  • 822
  • 23 Dec 2020
Topic Review
Isolated Pierre Robin Sequence
Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways.
  • 822
  • 23 Dec 2020
Topic Review
Nager Syndrome
Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.
  • 822
  • 23 Dec 2020
Topic Review
Netherton Syndrome
Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane.
  • 822
  • 23 Dec 2020
Topic Review
Rhizomelic Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body.
  • 822
  • 24 Dec 2020
Topic Review
CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.
  • 822
  • 24 Dec 2020
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