Sentences with phrase «damaged genes coding»
It is perhaps thus likely that that these damaged genes coding for psychiatric diseases are overrepresented in women with fertility problems, and, if transferred to their offspring, this may at least partly explain the increased risk of psychiatric diseases.»
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Damage to human chromosome 9 (of the cell's 24 pairs) where the gene that codes for E-NTPDase2 resides is known to cause eye and brain defects, such as microphthalmia — literally, small eyes.
Other genetic diseases include Tay - Sachs disease (damage to the gene for the enzyme hexosaminidase A leads to an accumulation of a chemical in the brain that destroys it), sickle cell anemia (improper coding of the gene that produces hemoglobin), hemophilia (lack of a gene for a blood - clotting factor) and muscular dystrophy (caused by a defective gene on the X chromosome).
By performing a meta - analysis of rare coding variants in whole - exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near - complete depletion of loss - of - function variants.