April 1981 in “Pediatric research” This study found that abnormal liver and kidney copper metabolism in Br females had no clinical effects, whereas defective brain copper metabolism in Br males was clinically significant.
8 citations
,
June 1981 in “Clinica Chimica Acta”
7 citations
,
October 1985 in “Genetics Research” This study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.
In this study, introducing the rat OTC gene into spf-ash mice led to increased OTC activity and normalized hair growth and biochemical markers like urinary orotic acid and serum citrulline, partially correcting the symptoms of OTC deficiency.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” This study found that cupric chloride treatment may partially correct delayed maturation and abnormal arborization of Purkinje cells in the cerebellum of hemizygous brindled mice, a model for Kinky hair disease.