| Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants. | Loss-of-function SLC30A2 mutants are associated with gut dysbiosis and alterations in intestinal gene expression in preterm infants.
Kelleher SL, Alam S, Rivera OC, Barber-Zucker S, Zarivach R, Wagatsuma T, Kambe T, Soybel DI, Wright J, Lamendella R., Free PMC Article | 02/26/2022 |
| A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency. | A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.
Li Z, Wang J, Yang Y, Wang S. | 09/18/2021 |
| Milk-derived miRNA profiles elucidate molecular pathways that underlie breast dysfunction in women with common genetic variants in SLC30A2. | Milk-derived miRNA profiles elucidate molecular pathways that underlie breast dysfunction in women with common genetic variants in SLC30A2.
Kelleher SL, Gagnon A, Rivera OC, Hicks SD, Carney MC, Alam S., Free PMC Article | 10/31/2020 |
| Thr288Ser mutation in SLC30A2/ZnT2 impairs critical functions of mammary epithelial cells, resulting in milk volume and altering lysosome function and cell energetics. | A common genetic variant in zinc transporter ZnT2 (Thr288Ser) is present in women with low milk volume and alters lysosome function and cell energetics.
Rivera OC, Geddes DT, Barber-Zucker S, Zarivach R, Gagnon A, Soybel DI, Kelleher SL. | 08/12/2020 |
| High proportion of alleles was found in the general population due to loss of function mutations in the zinc transporter ZnT2, which result in impaired zinc secretion into breast milk consequently causing transient neonatal zinc deficiency in exclusively breastfed infants. | High proportion of transient neonatal zinc deficiency causing alleles in the general population.
Golan Y, Lehvy A, Horev G, Assaraf YG., Free PMC Article | 06/20/2020 |
| This study confirms that ZnT2 is important for normal breast function in women during lactation, and suggests that women who harbor defective variants in ZnT2 may be at-risk for poor lactation performance. | A genetic variant in SLC30A2 causes breast dysfunction during lactation by inducing ER stress, oxidative stress and epithelial barrier defects.
Lee S, Zhou Y, Gill DL, Kelleher SL., Free PMC Article | 09/14/2019 |
| ZNT2 was localized on the cell surface of both human and mouse beta-cells, suggesting a role of ZNT2 in direct export of zinc out of the beta-cell | SLC30A family expression in the pancreatic islets of humans and mice: cellular localization in the β-cells.
Cai Y, Kirschke CP, Huang L. | 09/8/2018 |
| Article highlights the importance of early diagnosis of SLC30A2/ZnT2 variants in order to supplement zinc-deficient infants in real-time, thus preventing TNZD morbidity and enhancing newborn health. [Review] | The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.
Golan Y, Kambe T, Assaraf YG. | 03/17/2018 |
| many SLC30A2/ZnT2 mutations cause or potentially cause transient neonatal zinc deficiency, as shown in three cases of Japanese infants | Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency.
Itsumura N, Kibihara Y, Fukue K, Miyata A, Fukushima K, Tamagawa-Mineoka R, Katoh N, Nishito Y, Ishida R, Narita H, Kodama H, Kambe T. | 11/18/2017 |
| findings establish that some heterozygous loss of function ZnT2 mutations disrupt zinc binding and zinc permeation, thereby suggesting a haploinsufficiency state for the unaffected WT ZnT2 allele in Transient Neonatal Zinc Deficiency | Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION.
Golan Y, Itsumura N, Glaser F, Berman B, Kambe T, Assaraf YG., Free PMC Article | 11/12/2016 |
| Our study indicates that SLC30A2 variants are common in this population, dysregulate Zn management and can lead to breast cell dysfunction. | Exome Sequencing of SLC30A2 Identifies Novel Loss- and Gain-of-Function Variants Associated with Breast Cell Dysfunction.
Alam S, Hennigar SR, Gallagher C, Soybel DI, Kelleher SL. | 08/20/2016 |
| Human ZnT2 expression is regulated by MTF-1. | Coordinative modulation of human zinc transporter 2 gene expression through active and suppressive regulators.
Lu YJ, Liu YC, Lin MC, Chen YT, Lin LY. | 02/13/2016 |
| PRL-R attenuation post-transcriptionally increased ZnT2 abundance and redistributed intracellular Zn pools into lysosomes and mitochondria. | Prolactin receptor attenuation induces zinc pool redistribution through ZnT2 and decreases invasion in MDA-MB-453 breast cancer cells.
Bostanci Z, Alam S, Soybel DI, Kelleher SL. | 04/5/2014 |
| Results indicated that -697G>T and 1031A>G polymorphisms in the SLC30A2 gene may be associated with low-milk-zinc in Chinese breastfeeding women. | Polymorphisms of SLC30A2 and selected perinatal factors associated with low milk zinc in Chinese breastfeeding women.
Qian L, Wang B, Tang N, Zhang W, Cai W. | 06/22/2013 |
| inactivating ZnT-2 mutations are an underlying basis of TNZD and provide the first evidence for the dominant inheritance of heterozygous ZnT-2 mutations via negative dominance due to homodimer formation. | A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
Lasry I, Seo YA, Ityel H, Shalva N, Pode-Shakked B, Glaser F, Berman B, Berezovsky I, Goncearenco A, Klar A, Levy J, Anikster Y, Kelleher SL, Assaraf YG., Free PMC Article | 11/24/2012 |
| Pancreatic release of zinc by acinar cells is through the secretory process and apical membrane and involves transporter ZnT2 | Gastrointestinal factors influencing zinc absorption and homeostasis.
Cousins RJ., Free PMC Article | 06/18/2011 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
Shen M, Vermeulen R, Rajaraman P, Menashe I, He X, Chapman RS, Yeager M, Thomas G, Burdett L, Hutchinson A, Yuenger J, Chanock S, Lan Q., Free PMC Article | 04/7/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Polymorphisms in mitochondrial genes and prostate cancer risk.
Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN., Free PMC Article | 09/20/2009 |
| The localization and function of each ZnT2 isoform, was examined. | Zinc transporter-2 (ZnT2) variants are localized to distinct subcellular compartments and functionally transport zinc.
Lopez V, Kelleher SL., Free PMC Article | 01/21/2010 |
| hZnT-2 was not detectable in leukocytes. | Intracellular zinc homeostasis in leukocyte subsets is regulated by different expression of zinc exporters ZnT-1 to ZnT-9.
Overbeck S, Uciechowski P, Ackland ML, Ford D, Rink L. | 01/21/2010 |
| ZnT2 can facilitate vesicular zinc accumulation independently of AP-3 function, and validate the M1 fibroblastoid line as a human cell culture system amenable to the study of vesicular zinc regulation. | Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes.
Falcón-Pérez JM, Dell'Angelica EC., Free PMC Article | 01/21/2010 |
| a mutation in SLC30A2 (ZnT-2) may have a role in transient neonatal zinc deficiency | Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.
Chowanadisai W, Lönnerdal B, Kelleher SL. | 01/21/2010 |