Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB et al.
American Journal of Human Genetics, 2024
Impact of Zinc Transport Mechanisms on Embryonic and Brain Development.
Willekens J et al.
Nutrients, 2022
A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.
Li Z et al.
Experimental Dermatology, 2020
High proportion of transient neonatal zinc deficiency causing alleles in the general population.
Golan Y et al.
Journal of Cellular and Molecular Medicine, 2019
Alterations in ZnT1 expression and function lead to impaired intracellular zinc homeostasis in cancer.
Lehvy AI et al.
Cell Death Discovery, 2019
The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.
Golan Y et al.
Metallomics : Integrated Biometal Science, 2017
Transient Neonatal Zinc Deficiency Caused by a Novel Mutation in the SLC30A2 Gene.
Liew HM et al.
Pediatric Dermatology, 2017
Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency.
Itsumura N et al.
Pediatric Research, 2016
Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION.
Golan Y et al.
The Journal of Biological Chemistry, 2016
Exome Sequencing of SLC30A2 Identifies Novel Loss- and Gain-of-Function Variants Associated with Breast Cell Dysfunction.
Alam S et al.
Journal of Mammary Gland Biology and Neoplasia, 2015
Altered expression of two zinc transporters, SLC30A5 and SLC30A6, underlies a mammary gland disorder of reduced zinc secretion into milk.
Kumar L et al.
Genes & Nutrition, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
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
Current understanding of ZIP and ZnT zinc transporters in human health and diseases.
Kambe T et al.
Cellular and Molecular Life Sciences : Cmls, 2014
Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.
Bin BH et al.
Embo Molecular Medicine, 2014
In situ dimerization of multiple wild type and mutant zinc transporters in live cells using bimolecular fluorescence complementation.
Lasry I et al.
The Journal of Biological Chemistry, 2014
Compound heterozygous mutations in SLC30A2/ZnT2 results in low milk zinc concentrations: a novel mechanism for zinc deficiency in a breast-fed infant.
Itsumura N et al.
Plos One, 2013
Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn (2+) for Normal Growth and Development.
Miletta MC et al.
International Journal of Endocrinology, 2013
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
Lasry I et al.
The Journal of Biological Chemistry, 2012
Transient neonatal zinc deficiency due to a new autosomal dominant mutation in gene SLC30A2 (ZnT-2).
Lova Navarro M et al.
Pediatric Dermatology, 0