(Q36720490)

15 August 2017

Mutations in HNF1A result in marked alterations of plasma glycan profile (English)

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15 August 2017

7

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15

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28

Oluf B Pedersen

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Igor Rudan

5

Igor Rudan

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Lina Zgaga

19

Lina Zgaga

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Trine Nielsen

Trine Nielsen

25

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Olga Gornik

Olga Gornik

32

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Ivana Kolcic

Ivana Kolcic

20

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Gordan Lauc

Gordan Lauc

39

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Torben Hansen

Torben Hansen

21

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Rebecca M Reynolds

Rebecca M Reynolds

9

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Anna Gloyn

Anna L Gloyn

6

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Amanda J Bennett

Amanda J Bennett

13

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Mark McCarthy

Mark I McCarthy

36

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Pål R Njølstad

29

Pål R Njølstad

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15 August 2017

31

Ulf Gyllensten

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15 August 2017

33

James F Wilson

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15 August 2017

35

Harry Campbell

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15 August 2017

30

Sarah H Wild

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15 August 2017

2

Jennifer E Huffman

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15 August 2017

34

Nicholas D Hastie

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15 August 2017

4

Mislav Novokmet

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15 August 2017

14

Abdelkader Essafi

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15 August 2017

3

Jayesh J Kattla

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15 August 2017

8

Barbara Adamczyk

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15 August 2017

12

Maja Pucic

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15 August 2017

17

Irma Redzic

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15 August 2017

10

Ana Muzinic

1 reference

15 August 2017

Gaya Thanabalasingham

1

1 reference

15 August 2017

Neelam Hassanali

11

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15 August 2017

Saima A Mughal

16

1 reference

15 August 2017

Dragan Primorac

18

1 reference

15 August 2017

Daniela Gasperikova

22

1 reference

15 August 2017

Erling Tjora

23

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15 August 2017

Mark W J Strachan

24

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15 August 2017

Juraj Stanik

26

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15 August 2017

Iwar Klimes

27

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15 August 2017

Pauline M Rudd

37

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15 August 2017

Katharine R Owen

38

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15 August 2017

Alan F Wright

40

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15 August 2017

language of work or name

English

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publication date

28 December 2012

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15 August 2017

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15 August 2017

62

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15 August 2017

4

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15 August 2017

1329-1337

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Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

15 August 2017

start time

28 August 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Diagnosis and management of maturity onset diabetes of the young (MODY).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Predicting the functional impact of protein mutations: application to cancer genomics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

A map of human genome variation from population-scale sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

The repertoire of glycan determinants in the human glycome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Clinical application of 1,5-anhydroglucitol measurements in patients with hepatocyte nuclear factor-1alpha maturity-onset diabetes of the young

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Changes of serum glycans during sepsis and acute pancreatitis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Genetic cause of hyperglycaemia and response to treatment in diabetes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Evaluation of Apolipoprotein M Serum Concentration as a Biomarker of HNF-1alpha MODY

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

The biosynthesis of the selectin-ligand sialyl Lewis x in colorectal cancer tissues is regulated by fucosyltransferase VI and can be inhibited by an RNA interference-based approach

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Effects of aging, body mass index, plasma lipid profiles, and smoking on human plasma N-glycans

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

An investigation of serum concentration of apoM as a potential MODY3 marker using a novel ELISA.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Proposal for a standard system for drawing structural diagrams of N- and O-linked carbohydrates and related compounds.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Variability, heritability and environmental determinants of human plasma N-glycome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

HPLC-based analysis of serum N-glycans on a 96-well plate platform with dedicated database software.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3609552

Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations

4 December 2018

1 reference

12 December 2020

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

1 reference

12 December 2020

Stability of N-glycan profiles in human plasma

1 reference

12 December 2020

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3

1 reference

12 December 2020

Identifiers

DOI

10.2337/DB12-0880

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23274891

1 reference