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List of works by Martine Vaxillaire

A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes

scientific article published on July 2004

A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity

article

A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.

scientific article

A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels

scientific article published in May 2008

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults

scientific article

A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk

scientific article

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

scientific article

Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population

scientific article

Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study

scientific article

Breakthroughs in monogenic diabetes genetics: from pediatric forms to young adulthood diabetes

scientific article published on March 2009

Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations

scientific article published on 30 December 2011

Comment on Beltrand et al. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033-2041.

scientific article published in September 2016

Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8

scientific article

Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study

scientific article

Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.

scientific article published in January 2007

Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.

scientific article

EIF4A2 is a positional candidate gene at the 3q27 locus linked to type 2 diabetes in French families

scientific article

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

scholarly article by Johan Rung et al published October 2009 in Nature Genetics

Estrogen receptor alpha gene variants associate with type 2 diabetes and fasting plasma glucose

scientific article published in November 2008

Familial early-onset diabetes is not a typical MODY in several Tunisian patients

scientific article published in December 2012

Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations

scientific article published on 9 January 2011

Functional and genetic analysis in type 2 diabetes of liver X receptor alleles--a cohort study

scientific article

G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans

scientific article published on 26 March 2009

Genetic analysis of ADIPOR1 and ADIPOR2 candidate polymorphisms for type 2 diabetes in the Caucasian population

scientific article published on 01 March 2006

Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.

scientific article published on 9 July 2010

Genetic basis of maturity-onset diabetes of the young

scientific article

Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits

scientific article published on 03 August 2009

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

scientific article published on 6 September 2009

Glucose-dependent regulation of NR2F2 promoter and influence of SNP-rs3743462 on whole body insulin sensitivity

scientific article (publication date: 2012)

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group

scientific article published on 2 January 2008

Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing

scientific article published on 16 September 2013

How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young

scientific article published on 05 August 2019

Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.

scientific article published on 7 November 2011

Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.

scientific article

Impact of common type 2 diabetes risk polymorphisms in the DESIR prospective study

scientific article published on 31 October 2007

Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling

scientific article published on 23 August 2016

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

scientific article

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

scientific article published in October 2004

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q

scientific article (publication date: July 2009)

MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients

scientific article

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

scientific article

Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes

scientific article

Monogenic diabetes: Implementation of translational genomic research towards precision medicine

scientific article published on 7 July 2016

Monogenic forms of diabetes mellitus: an update

scientific article published on December 2009

Mutations exomiques rares transmises au sein de familles de type MODY : analyse de corrélation avec la variabilité phénotypique et les défauts métaboliques précoces

scientific article published in March 2017

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections

scientific article published in June 2008

Neonatal hyperglycaemia and abnormal development of the pancreas.

scientific article published on February 2008

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

scientific article

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

scientific article

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

scientific article published on 12 October 2020

Predicting diabetes: clinical, biological, and genetic approaches: data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR).

scientific article

RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells

scientific article

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

scientific article published on 29 January 2012

Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function

scientific article

SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts

scientific article published on 01 August 2004

Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians

scientific article published in October 2002

Study of TNFalpha -308G/A and IL6 -174G/C polymorphisms in type 2 diabetes and obesity risk in the Tunisian population

scientific article

The PPARG Pro12Ala polymorphism is associated with a decreased risk of developing hyperglycemia over 6 years and combines with the effect of the APM1 G-11391A single nucleotide polymorphism: the Data From an Epidemiological Study on the Insulin Resi

scientific article

The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

scientific article published on 18 April 2009

The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population

scientific article

The emerging genetics of type 2 diabetes

scientific article published on 20 August 2010

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

scientific article published on April 2012

The unique clinical spectrum of maturity onset diabetes of the young type 3.

scientific article published on 28 October 2017

Type 2 diabetes-related genetic risk scores associated with variations in fasting plasma glucose and development of impaired glucose homeostasis in the prospective DESIR study

scientific article published on 4 June 2014

Variation Within the Gene Encoding the Upstream Stimulatory Factor 1 Does Not Influence Susceptibility to Type 2 Diabetes in Samples From Populations With Replicated Evidence of Linkage to Chromosome 1q

article

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

scientific article published on 23 November 2015

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene

scientific article

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