hCTR1: A human gene for copper uptake identified by complementation in yeast
The molecular mechanisms responsible for the cellular uptake of copper in mammalian cells are unknown. We describe isolation of a human gene involved in this process by complementation of the yeast...
The copper transporter CTR1 provides an essential function in mammalian embryonic development
Kuo, Yien-Ming, Zhou, Bing, Cosco, Dominique, Gitschier, Jane
Copper serves as an essential cofactor for a variety of proteins in all living organisms. Previously, we described a human gene (CTR1;SLC31A1) that encodes a high-affinity copper-uptake protein and...
Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3
Wang, Kun, Pugh, Elizabeth W., Griffen, Shari, Doheny, Kimberly F., Mostafa, Wedad Z., Al-Aboosi, Mustafa M., ...
Acrodermatitis enteropathica (AE) is a rare autosomal recessive pediatric disease characterized by dermatitis, diarrhea, alopecia, and growth failure. The disease results from insufficient uptake of...
Familial Aggregation of Absolute Pitch
Baharloo, Siamak, Service, Susan K., Risch, Neil, Gitschier, Jane, Freimer, Nelson B.
Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and...
hCTR1: A human gene for copper uptake identified by complementation in yeast
The molecular mechanisms responsible for the cellular uptake of copper in mammalian cells are unknown. We describe isolation of a human gene involved in this process by complementation of the yeast...
The copper transporter CTR1 provides an essential function in mammalian embryonic development
Kuo, Yien-Ming, Zhou, Bing, Cosco, Dominique, Gitschier, Jane
Copper serves as an essential cofactor for a variety of proteins in all living organisms. Previously, we described a human gene (CTR1;SLC31A1) that encodes a high-affinity copper-uptake protein and...
A Novel Member of a Zinc Transporter Family Is Defective in Acrodermatitis Enteropathica
Wang, Kun, Zhou, Bing, Kuo, Yien-Ming, Zemansky, Jason, Gitschier, Jane
The rare inherited condition acrodermatitis enteropathica (AE) results from a defect in the absorption of dietary zinc. Recently, we used homozygosity mapping in consanguineous Middle Eastern...
Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3
Wang, Kun, Pugh, Elizabeth W., Griffen, Shari, Doheny, Kimberly F., Mostafa, Wedad Z., Al-Aboosi, Mustafa M., ...
Acrodermatitis enteropathica (AE) is a rare autosomal recessive pediatric disease characterized by dermatitis, diarrhea, alopecia, and growth failure. The disease results from insufficient uptake of...
Familial Aggregation of Absolute Pitch
Baharloo, Siamak, Service, Susan K., Risch, Neil, Gitschier, Jane, Freimer, Nelson B.
Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and...
Dichotomy and perceptual distortions in absolute pitch ability
Athos, E. Alexandra, Levinson, Barbara, Kistler, Amy, Zemansky, Jason, Bostrom, Alan, Freimer, Nelson, ...
Absolute pitch (AP) is the rare ability to identify the pitch of a tone without the aid of a reference tone. Understanding both the nature and genesis of AP can provide insights into neuroplasticity...