Loss-of-function mutations in SLC30A8 protect against type 2 diabetes (Q33734046)

29 July 2017

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes (English)

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Unnur Þorsteinsdóttir

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Valgerdur Steinthorsdottir

Unnur Thorsteinsdottir

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Valgerdur Steinthorsdottir

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Jaakko Tuomilehto

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Jaakko Tuomilehto

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Stacey Gabriel

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Stacey Gabriel

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Rasmus Ribel-Madsen

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Kristian Hveem

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Gudmar Thorleifsson

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Rainer Rauramaa

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Anubha Mahajan

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Christian Fuchsberger

Christian Fuchsberger

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Rafn Benediktsson

Rafn Benediktsson

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Benjamin Glaser

Benjamin Glaser

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Marit E. Jørgensen

Marit Eika Jørgensen

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E. Shyong Tai

E Shyong Tai

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Allan Linneberg

Allan Linneberg

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Torben Hansen

Torben Hansen

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Torben Jørgensen

Torben Jørgensen

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Oluf Borbye Pedersen

Oluf Pedersen

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Karen L Mohlke

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Karen L Mohlke

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Veikko Salomaa

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Mark I McCarthy

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Augustine Kong

Augustine Kong

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Pål R Njølstad

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Pål R Njølstad

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Anders Molven

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Markku Laakso

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Michael Boehnke

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Erik Ingelsson

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Sekar Kathiresan

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Heather M Stringham

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Lars Lind

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Leif Groop

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Bo Isomaa

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John Blangero

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Patrick Sulem

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David R Cox

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David Altshuler

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Daniel F Gudbjartsson

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Kari Stefansson

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Benjamin F Voight

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Ivan Brandslund

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Jaspal Kooner

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Tanya Teslovich

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James G Wilson

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Timothy Fennell

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Craig Hanis

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Gisli Masson

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Jason Flannick

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Nicola L Beer

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Suzanne B R Jacobs

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Yoon Shin Cho

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Cramer Christensen

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Astradur B Hreidarsson

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Astradur B Hreidarsson

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Yik Ying Teo

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Julia Brosnan

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Andrew P Morris

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Gil Atzmon

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Don W Bowden

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Frank Burslem

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John Chambers

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Desirée A Douglas

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Ravindranath Duggirala

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Yossi Farjoun

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Pierre Fontanillas

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Tom Forsén

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Jong-Young Lee

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Shobha Potluri

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Ann-Marie Richard

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Tim Rolph

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Ayellet V Segrè

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Hanna Skärstrand

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Jeff K Trimmer

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Fariba Vaziri-Sani

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Go-T2D Consortium

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T2D-GENES Consortium

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language of work or name

English

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publication date

2 March 2014

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357-363

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https://scigraph.springernature.com/pub.10.1038/ng.2915

29 July 2017

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cites work

The diabetes-susceptible gene SLC30A8/ZnT8 regulates hepatic insulin clearance

1 reference

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Validating therapeutic targets through human genetics

21 June 2018

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Animal models of GWAS-identified type 2 diabetes genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Effect of a monoclonal antibody to PCSK9 on low-density lipoprotein cholesterol levels in statin-intolerant patients: the GAUSS randomized trial.

21 June 2018

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A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

21 June 2018

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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

The physiological effects of deleting the mouse SLC30A8 gene encoding zinc transporter-8 are influenced by gender and genetic background

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Effects of high-fat diet feeding on Znt8-null mice: differences between β-cell and global knockout of Znt8

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Think zinc: New roles for zinc in the control of insulin secretion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

From genetic association to molecular mechanism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Insulin crystallization depends on zinc transporter ZnT8 expression, but is not required for normal glucose homeostasis in mice.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Deletion of the mouse Slc30a8 gene encoding zinc transporter-8 results in impaired insulin secretion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

A genome-wide association study identifies novel risk loci for type 2 diabetes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

In vivo expression and functional characterization of the zinc transporter ZnT8 in glucose-induced insulin secretion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Experimental tests to definitively determine ubiquitylation of a substrate.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localized into insulin secretory granules

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Nociceptor-specific gene deletion reveals a major role for Nav1.7 (PN1) in acute and inflammatory pain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

Beta cell-specific Znt8 deletion in mice causes marked defects in insulin processing, crystallisation and secretion.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2915

Differential confounding of rare and common variants in spatially structured populations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2915

New approaches to population stratification in genome-wide association studies

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2915

Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4051628

30 October 2018

Identifiers

DOI

10.1038/NG.2915

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29 July 2017

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29 July 2017

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