Nature Search

Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele

Simon T. Bennett
Amanda J. Wilson
John A. Todd
Research01 Nov 1997
Nature Genetics

Volume: 17, P: 350-352
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus

Petros Vafiadis
Simon T. Bennett
Constantin Polychronakos
Research01 Mar 1997
Nature Genetics

Volume: 15, P: 289-292
Parental genomic imprinting of the human IGF2 gene

Nick Giannoukakis
Cheri Deal
Constantin Polychronakos
Research01 May 1993
Nature Genetics

Volume: 4, P: 98-101
Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms' tumor

YongQin Xu
Paul Grundy
Constantin Polychronakos
Research06 Mar 1997
Oncogene

Volume: 14, P: 1041-1046
Response to 'Familial risks in understanding type 1 diabetes genetics'

Constantin Polychronakos
Quan Li
Correspondence17 Jan 2012
Nature Reviews Genetics

Volume: 13, P: 146
A genome-wide association study identifies novel risk loci for type 2 diabetes

A survey of the entire human genome has found that five genetic loci contribute a large fraction of disease risk in type 2 diabetes.

Robert Sladek
Ghislain Rocheleau
Philippe Froguel
Research11 Feb 2007
Nature

Volume: 445, P: 881-885
Diabetes in the post-GWAS era

Large sample sizes, high-resolution arrays and comprehensive imputation are pushing genetic fine-mapping of complex trait loci to its limits without, in most cases, pinpointing a unique variant-gene combination. Superimposing these results on sophisticated maps of functional chromatin elements promises to break this logjam, as a new study of type 2 diabetes compellingly demonstrates.

Constantin Polychronakos
Maha Alriyami
News & Views01 Dec 2015
Nature Genetics

Volume: 47, P: 1373-1374
Fine points in mapping autoimmunity

An efficient way to design genotyping arrays for fine mapping is to group phenotypes with common biology. The first application of the Immunochip to celiac disease provides an insightful view of what this strategy can achieve.

Constantin Polychronakos
News & Views28 Nov 2011
Nature Genetics

Volume: 43, P: 1173-1174
Parsing the spectrum of allelic architectures in diabetes

Distinguishing ordinary diabetes from its monogenic forms has been one of the challenges in optimally managing the disease. Using high-quality imputation of rare variants and large databases, a study now defines the gray zone between the two and lays down a blueprint for objectively evaluating the related variants.

Yangxi Li
Constantin Polychronakos
News & Views14 Oct 2024
Nature Genetics

Volume: 56, P: 2297-2298
Understanding type 1 diabetes through genetics: advances and prospects

Various genetic and functional studies have enhanced the understanding of type 1 diabetes susceptibility genes, including their roles in the underlying immune dysfunction. This Review summarizes the current understanding of type 1 diabetes genetics from the identification of novel susceptibility loci to functional characterization of new and established risk loci.

Constantin Polychronakos
Quan Li
Reviews18 Oct 2011
Nature Reviews Genetics

Volume: 12, P: 781-792
Erratum: Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia

Johan Rung
Stéphane Cauchi
Robert Sladek
Amendments and Corrections01 Oct 2009
Nature Genetics

Volume: 41, P: 1156
Genome-wide search for exonic variants affecting translational efficiency

Genetic effects on gene expression by variants at expression quantitative trait loci (eQTLs), can contribute to human genetic diseases. Here, Liet al. present a method to study eQTLs with effects on protein translation on a transcriptome-wide scale.

Quan Li
Angeliki Makri
Hui-Qi Qu
Research31 Jul 2013
Nature Communications

Volume: 4, P: 1-6
Rfx6 directs islet formation and insulin production in mice and humans

Pancreatic β-cells release insulin, which controls energy homeostasis in vertebrates, and its lack causes diabetes mellitus. The transcription factor neurogenin 3 (Neurog3) initiates differentiation of β-cells and other islet cell types from pancreatic endoderm; here, the transcription factor Rfx6 is shown to direct islet cell differentiation downstream of Neurog3 in mice and humans. This may be useful in efforts to generate β-cells for patients with diabetes.

Stuart B. Smith
Hui-Qi Qu
Michael S. German
Research11 Feb 2010
Nature

Volume: 463, P: 775-780
Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes

Huiqi Qu
Bhupinder Bharaj
Constantin Polychronakos
Correspondence01 Feb 2005
Nature Genetics

Volume: 37, P: 111-112
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Type 1 diabetes poses an increasing health problem, and clearly results from both genetic and environmental factors. A genome-wide association study has identified at least one gene, previously unexamined in diabetes, which should be followed up in future studies.

Hakon Hakonarson
Struan F. A. Grant
Constantin Polychronakos
Research15 Jul 2007
Nature

Volume: 448, P: 591-594
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

Philippe Froguel and colleauges present a genome-wide association study for early-onset and morbid adult obesity, reporting three new genetic associations to obesity.

David Meyre
Jérôme Delplanque
Philippe Froguel
Research18 Jan 2009
Nature Genetics

Volume: 41, P: 157-159
93 INCREASE IN SPECIFIC BINDING (SB) OF ERYTHROCYTE (RBC) RECEPTORS FOR INSULIN-LIKE GROWTH FACTOR 2 (IGF-2) WITH GROWTH HORMONE TREATMENT OF HYPOPITUITARY CHILDREN

D Colm Costigan
Constantin Polychronakos
Harvey J Guyda
Research01 Jun 1985
Pediatric Research

Volume: 19, P: 619
Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci

Hui-Qi Qu et al. present a case-control association study to examine the genetic architecture of European patients with type 1 diabetes (T1D) of low genetic risk score. They identify 41 loci associated with T1D of low genetic risk score, including regions previously linked to viral infection and autism spectrum disorder, altogether providing further insight into the pathogenesis of T1D.

Hui-Qi Qu
Jingchun Qu
Hakon Hakonarson
ResearchOpen Access23 Jul 2021
Communications Biology

Volume: 4, P: 1-10
Loss of imprinting and allele switching of p73 in renal cell carcinoma

Ming Mai
Chiping Qian
Wanguo Liu
Research01 Oct 1998
Oncogene

Volume: 17, P: 1739-1741
482 TRANSIENT GROWTH DECELERATION IN NORMAL SHORT CHILDREN

Constantin Polychronakos
Harvey Guyda
Research01 Apr 1985
Pediatric Research

Volume: 19, P: 191
Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Autoimmune diseases are genetically complex disorders that affect up to 10% of the Western population. Here Li et al. quantify the heritability of a range of autoimmune diseases in the largest paediatric cohort examined to date, illustrating that genetic and non-genetic components variably contribute to the susceptibility of each disease.

Yun R. Li
Sihai D. Zhao
Hakon Hakonarson
ResearchOpen Access09 Oct 2015
Nature Communications

Volume: 6, P: 1-10
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

A meta-analysis across ten pediatric autoimmune diseases reveals shared genetic architecture and novel susceptibility loci.

Yun R Li
Jin Li
Hakon Hakonarson
Research24 Aug 2015
Nature Medicine

Volume: 21, P: 1018-1027
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia

Rob Sladek and colleagues identify a common variant near the insulin receptor substrate 1 gene (IRS1) associated with type 2 diabetes, insulin resistance, hyperinsulinemia and impaired insulin signaling. This is the first confirmed diabetes risk locus associated with insulin resistance.

Johan Rung
Stéphane Cauchi
Robert Sladek
Research06 Sept 2009
Nature Genetics

Volume: 41, P: 1110-1115
Reassessment of the type I diabetes association of the OAS1 locus

H-Q Qu
C Polychronakos
Research02 Dec 2009
Genes & Immunity

Volume: 10, P: S69-S73
The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II

H-Q Qu
L Marchand
C Polychronakos
Research13 Mar 2008
Genes & Immunity

Volume: 9, P: 264-266
The type I diabetes association of the IL2RA locus

H-Q Qu
J P Bradfield
C Polychronakos
Research02 Dec 2009
Genes & Immunity

Volume: 10, P: S42-S48
Remapping the type I diabetes association of the CTLA4 locus

H-Q Qu
J P Bradfield
C Polychronakos
Research02 Dec 2009
Genes & Immunity

Volume: 10, P: S27-S32
Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a re-evaluation of the 3′ +6230G>A polymorphism

S M Anjos
W Shao
C Polychronakos
Research28 Apr 2005
Genes & Immunity

Volume: 6, P: 305-311
High-throughput sequencing defines donor and recipient HLA B-cell epitope frequencies for prospective matching in transplantation

Tran et al. combine high throughput sequencing, structural biology and computational simulation to determine the HLA allele and antibody-defined epitope frequencies in renal transplant patients and donors. These results demonstrate the feasibility of HLA epitope matching using data from a national transplantation program.

Jenny N. Tran
Oliver P. Günther
Zoltán Kaló
ResearchOpen Access14 May 2021
Communications Biology

Volume: 4, P: 1-14

Search

Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele

Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus

Parental genomic imprinting of the human IGF2 gene

Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms' tumor

Response to 'Familial risks in understanding type 1 diabetes genetics'

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

Diabetes in the post-GWAS era

Fine points in mapping autoimmunity

Parsing the spectrum of allelic architectures in diabetes

Understanding type 1 diabetes through genetics: advances and prospects

Erratum: Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia

Genome-wide search for exonic variants affecting translational efficiency

Rfx6 directs islet formation and insulin production in mice and humans

Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

93 INCREASE IN SPECIFIC BINDING (SB) OF ERYTHROCYTE (RBC) RECEPTORS FOR INSULIN-LIKE GROWTH FACTOR 2 (IGF-2) WITH GROWTH HORMONE TREATMENT OF HYPOPITUITARY CHILDREN

Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci

Loss of imprinting and allele switching of p73 in renal cell carcinoma

482 TRANSIENT GROWTH DECELERATION IN NORMAL SHORT CHILDREN

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia

Reassessment of the type I diabetes association of the OAS1 locus

The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II

The type I diabetes association of the IL2RA locus

Remapping the type I diabetes association of the CTLA4 locus

Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus: a re-evaluation of the 3′ +6230G>A polymorphism

High-throughput sequencing defines donor and recipient HLA B-cell epitope frequencies for prospective matching in transplantation

Search

Quick links

Search

Filter By:

Search

Quick links