(Q24305355)

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Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

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scholarly article

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Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man (English)

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liver cirrhosis

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Solute carrier family 30 member 10

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GOA release 2020-03-11

manganese ion transport

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GOA release 2020-03-11

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based on heuristic

inferred from title

object named as

Karin Tuschl

1

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object named as

Maha S Zaki

10

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Orlando G. Barsottini

object named as

Orlando G Barsottini

9

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Philippa B Mills

object named as

Philippa B Mills

18

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Andrea L Rideout

14

object named as

Andrea Rideout

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author name string

Peter T Clayton

2

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Sidney M Gospe

3

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Shamshad Gulab

4

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Shahnaz Ibrahim

5

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Pratibha Singhi

6

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Roosy Aulakh

7

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Reinaldo T Ribeiro

8

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Maria Luz Del Rosario

11

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Sarah Dyack

12

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Victoria Price

13

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Kevin Gordon

15

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Ron A Wevers

16

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W K Kling Chong

17

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language of work or name

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publication date

9 March 2012

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American Journal of Human Genetics

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90

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3

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457-66

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Ferroportin is a manganese-responsive protein that decreases manganese cytotoxicity and accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

Manganese transport in eukaryotes: the role of DMT1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

Cloning and functional characterization of a mammalian zinc transporter that confers resistance to zinc

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

From manganism to manganese-induced parkinsonism: a conceptual model based on the evolution of exposure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

Structure of the zinc transporter YiiP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

Arsenic and manganese exposure and children's intellectual function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

19 March 2017

Welding and parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese toxicity in a child with iron deficiency and polycythemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese accumulation in the CNS and associated pathologies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese-Induced Parkinsonism due to Ephedrone Abuse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese encephalopathy: an under-recognized condition in the intensive care unit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Long evolutionary conservation and considerable tissue specificity of several atypical solute carrier transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Acquired hepatocerebral degeneration: clinical characteristics and MRI findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese (Mn) and iron (Fe): interdependency of transport and regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese flux across the blood-brain barrier.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Relationship between blood levels of heavy metals and Parkinson's disease in China

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Are there common biochemical and molecular mechanisms controlling manganism and parkisonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese and its role in Parkinson's disease: from transport to neuropathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Gain-of-function mutations identify amino acids within transmembrane domains of the yeast vacuolar transporter Zrc1 that determine metal specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Mammalian zinc transporters: nutritional and physiologic regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Acquired hepatocerebral degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Case report: a metabolic disorder presenting as pediatric manganism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese accumulation in the brain: MR imaging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese targets m-aconitase and activates iron regulatory protein 2 in AF5 GABAergic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese: recent advances in understanding its transport and neurotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese toxicity upon overexposure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese neurotoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Iron interactions and other biological reactions mediating the physiological and toxic actions of manganese

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Regulation of the erythropoietin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganese intoxication in the rhesus monkey: a clinical, imaging, pathologic, and biochemical study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Manganism and idiopathic parkinsonism: similarities and differences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Mutations in PMR1 suppress oxidative damage in yeast cells lacking superoxide dismutase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

Hepatic myelopathy. Case report with review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

A single amino acid change in the yeast vacuolar metal transporters ZRC1 and COT1 alters their substrate specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

27 September 2017

MRI in children receiving total parenteral nutrition.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

30 May 2018

Dimercaptosuccinic acid (DMSA): negligible effect on manganese in urine and blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

30 May 2018

Portal-systemic encephalopathy: report of a case with unusual MR findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

30 May 2018

Differential toxicity of Mn2+ and Mn3+ to rat liver tissues: Oxidative damage, membrane fluidity and histopathological changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

High dietary iron reduces transporters involved in iron and manganese metabolism and increases intestinal permeability in calves.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Parkin regulates metal transport via proteasomal degradation of the 1B isoforms of divalent metal transporter 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

A Parkinsonian syndrome in methcathinone users and the role of manganese

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Brain metal concentrations in chronic liver failure patients with pallidal T1 MRI hyperintensity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Binding and transport of metal ions at the dimer interface of the Escherichia coli metal transporter YiiP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Follow-up of patients affected by manganese-induced Parkinsonism after treatment with CaNa2EDTA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Alterations in cellular IRP-dependent iron regulation by in vitro manganese exposure in undifferentiated PC12 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Biochemical properties of vacuolar zinc transport systems of Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Transient globus pallidus T1 shortening associated with polycythaemia and dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309187

29 November 2018

Occupational exposure to manganese, copper, lead, iron, mercury and zinc and the risk of Parkinson's disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22341972

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Behavior of heavy metals in human urine and blood following calcium disodium ethylenediamine tetraacetate injection: observations in metal workers

1 reference

https://pubmed.ncbi.nlm.nih.gov/22341972

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dyskinesia from manganism in a hepatic dysfunction patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/22341972

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Manganese-bilirubin cholestasis. Further studies in pathogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22341972

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1016/J.AJHG.2012.01.018

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

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