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List of works by Gerald Le Gac

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.

scientific article published on 30 October 2009

A gene expression and pre-mRNA splicing signature that marks the adenoma-adenocarcinoma progression in colorectal cancer.

scientific article

A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.

scientific article

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

scientific article published on 15 August 2020

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

scientific article published on 25 August 2009

A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)

scientific article published on 06 December 2012

Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements

scientific article published on 28 November 2015

Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

scientific article published on 10 August 2019

Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis

scientific article published on 04 October 2014

Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada)

scientific article published on 01 February 2000

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC

scientific article published on 01 September 2001

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

scientific article

DNA damage-induced down-regulation of human Cdc25C and Cdc2 is mediated by cooperation between p53 and maintenance DNA (cytosine-5) methyltransferase 1.

scientific article published on 28 June 2006

Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.

scientific article

Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.

scientific article published on 22 September 2017

Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.

scientific article published on 17 February 2018

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent

scientific article published on 01 May 2008

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study

scientific article (publication date: 2013)

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

scientific article published on 21 March 2015

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

scientific article published on 06 July 2010

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

scientific article published on 24 June 2019

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

scientific article published on 27 February 2019

GNPATpolymorphism rs11558492 is not associated with increased severity in a large cohort ofHFEp.Cys282Tyr homozygous patients

scientific article published on 6 October 2016

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

scientific article published on 18 October 2014

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype

scientific article (publication date: April 2004)

HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients

scientific article published on 06 March 2015

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype

scientific article published on 22 September 2008

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

scientific article

Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)

scientific article published on 01 March 2000

Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer.

scientific article

Nramp2 analysis in hemochromatosis probands.

scientific article published in August 2000

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation

scientific article published on 01 September 2007

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.

scientific article published on 14 August 2013

Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

scientific article published in May 2003

Prevalence and impact of frailty on mortality in elderly ICU patients: a prospective, multicenter, observational study.

scientific article published on 21 March 2014

Relation between HFE mutations and mild iron-overload expression

scientific article published on 01 April 2000

Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

scientific article published on 10 September 2013

The R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

scientific article published on 12 July 2018

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

scientific article published in 2024

The molecular genetics of haemochromatosis.

scientific article

The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin

scientific article published on 30 August 2016

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype

scientific article published on 14 July 2004

Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation

scientific article published on 05 October 2004

[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France]

article

[Relevance of circulating tumor DNA in lung cancer: A case report].

scientific article

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