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Article

Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.

The Journal of biological chemistry - 22 Dec 2006

Chowanadisai Winyoo, Lönnerdal Bo, Kelleher Shannon L

Abstract excerpt

Breast milk normally contains adequate zinc to meet infant requirements up to six months of age; however, transient neonatal zinc deficiency has been documented in exclusively breastfed infants of women with low milk zinc concentration. This condition is not corrected by maternal zinc supplementation, supporting the speculation that it results from an inherited genetic condition. We identified a family in which...

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Cation Transport Proteins
Dietary Supplements
Fluorescent Antibody Technique, Indirect
Infant, Newborn
Mammary Glands, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Homology, Amino Acid

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PMID: 17065149
DOI: 10.1074/jbc.M605821200

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Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.PMID 17065149Read ↗

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Compound heterozygous mutations in SLC30A2/ZnT2 results in low milk zinc concentrations: a novel mechanism for zinc deficiency in a breast-fed infant.Semantic proximity Read ↗

Exome Sequencing of SLC30A2 Identifies Novel Loss- and Gain-of-Function Variants Associated with Breast Cell Dysfunction.Semantic proximity Read ↗

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A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.Semantic proximity Read ↗

The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.Semantic proximity Read ↗

Functional analysis of two single nucleotide polymorphisms in SLC30A2 (ZnT2): implications for mammary gland function and breast disease in women.Semantic proximity Read ↗

A common genetic variant in zinc transporter ZnT2 (Thr288Ser) is present in women with low milk volume and alters lysosome function and cell energetics.Semantic proximity Read ↗

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Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.Semantic proximity Read ↗

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