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Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
Primary MPO deficiency is an autosomal recessive genetic disorder, which is caused by mutations in the myeloperoxidase gene on chromosome 17q23. [5] There are several different known mutations of this gene which all lead to myeloperoxidase deficiency.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Induced mutations are alterations in the gene after it has come in contact with mutagens and environmental causes. Induced mutations on the molecular level can be caused by: Chemicals Hydroxylamine; Base analogues (e.g., Bromodeoxyuridine (BrdU)) Alkylating agents (e.g., N-ethyl-N-nitrosourea (ENU). These agents can mutate both replicating and ...
Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, [1] is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. [2]
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells.
The machines buzzed and whirred as the cows were carried in a lazy arc to the parlor's exit, where they were detached from milk hoses and sent on their way. ... Sometimes these mutations have ...
Mutations in the ITGB2 gene lead to absent, reduced, or aberrant CD18 protein expression, causing a lack of expression in the leukocyte membrane of the β-2 integrins. The main function of these proteins is to allow neutrophils to make their way out of the blood stream and into the infected tissues by adhering to different ligands expressed by ...