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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.
  • 874
  • 19 Jul 2021
Topic Review
Larsen Syndrome
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family.
  • 873
  • 23 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.
  • 873
  • 23 Dec 2020
Topic Review
SCN1A Gene
sodium voltage-gated channel alpha subunit 1
  • 873
  • 24 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.
  • 873
  • 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).
  • 873
  • 24 Dec 2020
Topic Review
TG Gene
Thyroglobulin: The TG gene provides instructions for making a protein called thyroglobulin, one of the largest proteins in the body. 
  • 873
  • 25 Dec 2020
Topic Review
TGM1 Gene
Transglutaminase 1: The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. 
  • 873
  • 25 Dec 2020
Topic Review
TPM3 Gene
Tropomyosin 3: The TPM3 gene provides instructions for making a protein called slow muscle alpha (α)-tropomyosin, which is part of the tropomyosin protein family. 
  • 873
  • 25 Dec 2020
Topic Review
TPMT Gene
Thiopurine S-methyltransferase: The TPMT gene provides instructions for making an enzyme called thiopurine S-methyltransferase (TPMT).
  • 873
  • 25 Dec 2020
Topic Review
TRNT1 Gene
tRNA nucleotidyl transferase 1: The TRNT1 gene provides instructions for making a protein involved in the production (synthesis) of other proteins.
  • 873
  • 25 Dec 2020
Topic Review
Hypochondrogenesis
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  • 872
  • 23 Dec 2020
Topic Review
RET Gene
ret proto-oncogene
  • 872
  • 23 Dec 2020
Topic Review
TARDBP Gene
TAR DNA binding protein: The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). 
  • 872
  • 24 Dec 2020
Topic Review
PADI3 Gene
peptidyl arginine deiminase 3
  • 872
  • 25 Dec 2020
Topic Review
Exosomal microRNA in Pancreatic Cancer
Pancreatic cancer is a highly aggressive and lethal malignancy mostly due to its late-stage presentation. This malignancy is difficult to diagnose, monitor, and treat, hence the development of novel diagnostic and prognostic biomarkers and better therapeutic strategies are urgently needed. Several groundbreaking discoveries over the past decade on cancer-associated exosomes demonstrated an association between exosomal miRNA and the development, progression, and therapy-resistance of pancreatic cancer.
  • 872
  • 29 Jun 2021
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.
  • 871
  • 23 Dec 2020
Topic Review
Warfarin Sensitivity
Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin.
  • 871
  • 23 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.
  • 871
  • 24 Dec 2020
Topic Review
Early-onset Myopathy with Fatal Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.
  • 871
  • 25 Dec 2020
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