Etelcalcetide Injection Etelcalcetide injection is used to treat secondary hyperparathyroidism (condition in which the body produces too much parathyroid hormone [PTH; natural substance needed to control the amount of calcium in the blood]) in adults with chronic kidney disease (condition…
Polymicrogyria is a rare brain disorder characterized by abnormal development and organization of the brain’s surface. It is the result of abnormal migration of neurons during the early stages of fetal brain development. Scientific studies have shown that polymicrogyria can…
The JAG1 gene is a scientific term used to refer to the jagged1 gene. This gene is a critical component within the Notch signaling pathway, which plays a significant role in various biological processes. Mutations in the JAG1 gene have…
HIVEP2-related intellectual disability is a rare condition that affects the neurological development and causes intellectual disability. It is named after the HIVEP2 gene, which is involved in the transcription of other genes during developmental processes. Studies have found that mutations…
The SDHC gene encodes a subunit of the succinate dehydrogenase (SDH) enzyme complex, involved in the Krebs cycle, also known as the citric acid cycle. This gene is located on chromosome 1q21 and is part of the SDH gene family,…
A karyotype genetic test is a specialized type of genetic testing that can help determine the chromosomal makeup of an individual. It is often used in cases where there is a suspected genetic disorder or if someone is having difficulty…
The ERCC8 gene, also known as Cockayne Syndrome B (CSB) or CKN1, is a genetic component involved in transcription-coupled nucleotide excision repair. Mutations in this gene can lead to Cockayne syndrome, a rare genetic disorder characterized by various physical and…
There are many tests used to determine the levels of bilirubin in the blood, but the presence of bilirubin in urine can also be an indication of various health issues. Bilirubin is a yellow pigment produced when red blood cells…
The human body produces many different hormones, each with its own specific function. One such hormone is calcitonin, which is produced by certain cells in the thyroid gland. Calcitonin helps regulate the levels of calcium and phosphate in the body,…
The GALK1 gene is responsible for producing the enzyme galactokinase. This enzyme plays a crucial role in breaking down galactose, a sugar found in dairy products and other foods. Galactose is then converted into glucose, which is used for energy…