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Your search keyword '"Carol Van Ryzin"' showing total 2 results
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2. Probing the functional consequence and clinical relevance of <scp> CD320 </scp> p.E88del, a variant in the transcobalamin receptor gene

Author

Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel‐Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L. Browne, James L. Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P. Venditti, Kyriakie Sarafoglou, David S. Rosenblatt, Denise M. Kay, and Lawrence C. Brody

Subjects
Transcobalamins, Vitamin B 12, Antigens, CD, Infant, Newborn, Genetics, Humans, Infant, Receptors, Cell Surface, Genetic Association Studies, Article, Genetics (clinical)
Abstract

The biological and clinical significance of the p.E88del variant in the transcobalamin receptor, CD320, is unknown. This allele is annotated in ClinVar as likely benign, pathogenic, and of uncertain significance. To determine functional consequence and clinical relevance of this allele, we employed cell culture and genetic association studies. Fibroblasts from sixteen CD320 p.E88del homozygotes exhibited reduced binding and uptake of cobalamin. Complete ascertainment of newborns with transiently elevated C3 (propionylcarnitine) in New York State demonstrated that homozygosity for CD320 p.E88del was over-represented (7/348, p

Published
2022

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