Lynne Montross - Academia.edu (original) (raw)

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Research paper thumbnail of Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hy... more Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption 1,2 . Most cases arise from a founder mutation in HFE (845G→A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with β2-microglobulin. Mice homozygous with respect to a null allele of Hfe (Hfe -/-) or homozygous with respect to the orthologous 882G→A mutation (Hfe 845A/845A )

Research paper thumbnail of Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hy... more Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption 1,2 . Most cases arise from a founder mutation in HFE (845G→A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with β2-microglobulin. Mice homozygous with respect to a null allele of Hfe (Hfe -/-) or homozygous with respect to the orthologous 882G→A mutation (Hfe 845A/845A )

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