Article
X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Mar 2010
Rheault Michelle N, Kren Stefan M, Hartich Linda A, Wall Melanie, Thomas William, Mesa Hector A, Avner Philip, Lees George E, Kashtan Clifford E, Segal Yoav
Abstract excerpt
BACKGROUND: Female carriers of X-linked Alport syndrome (XLAS) demonstrate variability in clinical phenotype that, unlike males, cannot be correlated with genotype. X-inactivation, the method by which females (XX) silence transcription from one X chromosome in order to achieve gene dosage parity with males (XY), likely modifies the carrier phenotype, but this hypothesis has not been tested directly. METHODS:...
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