Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East.
Abu-Duhier F et al.
Dermatology Research and Practice, 2018
Crystal structures of a ZIP zinc transporter reveal a binuclear metal center in the transport pathway.
Zhang T et al.
Science Advances, 2017
Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples.
Kasana S et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2015
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.
Schmitt S et al.
Human Mutation, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Regulation and function of Zip4, the acrodermatitis enteropathica gene.
Andrews GK
Biochemical Society Transactions, 2008
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Fukada T et al.
Plos One, 2008
Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter.
Wang F et al.
Human Molecular Genetics, 2004
The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice.
Dufner-Beattie J et al.
The Journal of Biological Chemistry, 2003
A novel member of a zinc transporter family is defective in acrodermatitis enteropathica.
Wang K et al.
American Journal of Human Genetics, 2002
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