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Topic Review
TG Gene
Thyroglobulin: The TG gene provides instructions for making a protein called thyroglobulin, one of the largest proteins in the body. 
  • 869
  • 25 Dec 2020
Topic Review
Surfactant Dysfunction
Surfactant dysfunction is a lung disorder that causes breathing problems.
  • 868
  • 23 Dec 2020
Topic Review
Hereditary Xanthinuria
Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine.
  • 868
  • 23 Dec 2020
Topic Review
Beta-Ureidopropionase Deficiency
Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals.
  • 868
  • 24 Dec 2020
Topic Review
FGF23 Gene
Fibroblast growth factor 23
  • 868
  • 04 Jan 2021
Topic Review
ClC-1 Chloride Channel Structure and Myotonia-Causing Mutations Update
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and hypertrophy. Mutations in the chloride voltage-gated channel 1 (CLCN1) gene that encodes the skeletal muscle chloride channel (ClC-1) are responsible for this disease, which is commonly known as myotonic chloride channelopathy. The structure of the channel has been updated and the biophysical properties of the mutated channel have been explored and analyzed, providing important clues to the general function/dysfunction of the wild-type and mutated channels.
  • 868
  • 02 Nov 2023
Topic Review
MMP2 Gene
matrix metallopeptidase 2
  • 867
  • 22 Dec 2020
Topic Review
Char Syndrome
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.
  • 867
  • 24 Dec 2020
Topic Review
EDN3 Gene
Endothelin 3: The EDN3 gene provides instructions for making a protein called endothelin 3. 
  • 867
  • 24 Dec 2020
Topic Review
TPMT Gene
Thiopurine S-methyltransferase: The TPMT gene provides instructions for making an enzyme called thiopurine S-methyltransferase (TPMT).
  • 867
  • 25 Dec 2020
Topic Review
Neonatal Onset Multisystem Inflammatory Disease
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.
  • 866
  • 23 Dec 2020
Topic Review
Legius Syndrome
Legius syndrome is a condition characterized by changes in skin coloring (pigmentation).
  • 866
  • 23 Dec 2020
Topic Review
Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly is a disorder that affects many parts of the body.
  • 866
  • 24 Dec 2020
Topic Review
STXBP1 Encephalopathy
STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy).
  • 866
  • 24 Dec 2020
Topic Review
Schwartz-Jampel Syndrome
Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia.
  • 866
  • 24 Dec 2020
Topic Review
SOS1 Gene
SOS Ras/Rac guanine nucleotide exchange factor 1
  • 866
  • 24 Dec 2020
Topic Review
Current Mammalian Models of Alzheimer’s Disease
Alzheimer’s disease (AD) is one of the looming health crises of the near future. Increasing lifespans and better medical treatment for other conditions mean that the prevalence of this disease is expected to triple by 2050. The impact of AD includes both the large toll on individuals and their families as well as a large financial cost to society. So far, we have no way to prevent, slow, or cure the disease. Current medications can only alleviate some of the symptoms temporarily. Many animal models of AD have been created, with the first transgenic mouse model in 1995. Mouse models have been beset by challenges, and no mouse model fully captures the symptomatology of AD without multiple genetic mutations and/or transgenes, some of which have never been implicated in human AD. Over 25 years later, many mouse models have been given an AD-like disease and then ‘cured’ in the lab, only for the treatments to fail in clinical trials.
  • 866
  • 23 Dec 2021
Topic Review
Tietz Syndrome
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair.
  • 865
  • 23 Dec 2020
Topic Review
Townes-Brocks Syndrome
Townes-Brocks syndrome is a genetic condition that affects several parts of the body.
  • 865
  • 23 Dec 2020
Topic Review
RET Gene
ret proto-oncogene
  • 865
  • 23 Dec 2020
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