PMC Links for Nucleotide (Select 258679415) - PMC

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Items: 4

Select item 65951211.

The mouse curly whiskers (cw) mutations are recessive alleles of hephaestin-like 1 (Hephl1)

Sidney Eragene, Jachius J. Stewart, Juan I. Samuel-Constanzo, Taotao Tan, Nia-Zaire Esgdaille, Krista J. Bigiarelli, Vanele D. DaCosta, Henry Jimenez, Thomas R. King

Mol Genet Metab Rep. 2019 Sep; 20: 100478. Published online 2019 Jun 20. doi: 10.1016/j.ymgmr.2019.100478

PMCID:: PMC6595121

Abstract Article PDF–1.6M

Select item 65342902.

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

Prashant Sharma, Marie Reichert, Yan Lu, Thomas C. Markello, David R. Adams, Peter J. Steinbach, Brie K. Fuqua, Xenia Parisi, Stephen G. Kaler, Christopher D. Vulpe, Gregory J. Anderson, William A. Gahl, May Christine V. Malicdan

PLoS Genet. 2019 May; 15(5): e1008143. Published online 2019 May 24. doi: 10.1371/journal.pgen.1008143

PMCID:: PMC6534290

Abstract Article PDF–2.6M

Select item 29375733.

Identification of Zyklopen, a New Member of the Vertebrate Multicopper Ferroxidase Family, and Characterization in Rodents and Human Cells

Huijun Chen, Zouhair K. Attieh, Basharut A. Syed, Yien‐Ming Kuo, Valerie Stevens, Brie K. Fuqua, Henriette S. Andersen, Claire E. Naylor, Robert W. Evans, Lorraine Gambling, Ruth Danzeisen, Mhenia Bacouri‐Haidar, Julnar Usta, Chris D. Vulpe, Harry J. McArdle

J Nutr. 2010 Oct; 140(10): 1728–1735. Published online 2010 Aug 4. doi: 10.3945/jn.109.117531