Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency. (Q39682092)

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14 March 2020

title

Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiency (English)

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12

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author name string

Naoya Itsumura

1

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14 March 2020

Yoshie Kibihara

2

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14 March 2020

Kazuhisa Fukue

3

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14 March 2020

Akiko Miyata

4

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14 March 2020

Kenji Fukushima

5

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14 March 2020

Risa Tamagawa-Mineoka

6

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14 March 2020

Norito Katoh

7

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14 March 2020

Yukina Nishito

8

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Riko Ishida

9

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14 March 2020

Hiroshi Narita

10

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14 March 2020

Hiroko Kodama

11

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language of work or name

English

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publication date

16 May 2016

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14 March 2020

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volume

80

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issue

4

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14 March 2020

page(s)

586-594

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https://scigraph.springernature.com/pub.10.1038/pr.2016.108

14 March 2020

exact match

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cites work

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Molecular regulation of milk trace mineral homeostasis

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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

21 January 2018

1 reference

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A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency

21 January 2018

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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

21 January 2018

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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

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Current understanding of ZIP and ZnT zinc transporters in human health and diseases.

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Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples

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Zinc deficiency and its inherited disorders -a review

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Symptomatic zinc deficiency in a breast-fed preterm infant

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The genetics of essential metal homeostasis during development

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A young infant with periorificial and acral dermatitis.

21 January 2018

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The significant other: splicing by the minor spliceosome

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Membrane-permeable and -impermeable sensors of the Zinpyr family and their application to imaging of hippocampal zinc in vivo

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An overview of a wide range of functions of ZnT and Zip zinc transporters in the secretory pathway

21 January 2018

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Macronutrient, mineral and trace element composition of breast milk from Japanese women

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Zinc deficiency in nursing infants

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

21 January 2018

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ZnT2 is a critical mediator of lysosomal-mediated cell death during early mammary gland involution

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Essential Role for Zinc Transporter 2 (ZnT2)-mediated Zinc Transport in Mammary Gland Development and Function during Lactation

21 January 2018

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Cooperative functions of ZnT1, metallothionein and ZnT4 in the cytoplasm are required for full activation of TNAP in the early secretory pathway

21 January 2018

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Changes in zinc absorption during development

21 January 2018

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Transient neonatal zinc deficiency due to a new autosomal dominant mutation in gene SLC30A2 (ZnT-2)

31 March 2020

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Zinc-deficiency dermatitis in breast-fed infants

31 March 2020

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Symptomatic acquired zinc deficiency in at-risk premature infants: high dose preventive supplementation is necessary

31 March 2020

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ZnT-2, a mammalian protein that confers resistance to zinc by facilitating vesicular sequestration

31 March 2020

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12 December 2020

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12 December 2020

Zinc deficiency in two full-term breast-fed infants

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12 December 2020

Symptomatic zinc deficiency in a full-term breast-fed infant.

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12 December 2020

Identifiers

DOI

10.1038/PR.2016.108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27304099%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

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