Genomes and Genes
Jean Louis Gueant
Affiliation: CHU de Nancy
- IgE-mediated hypersensitivity to cephalosporinsJean Louis Gueant
INSERM U 724, Laboratoire de Pathologie Cellulaire et Moléculaire en Nutrition and Department of Clinical Biochemistry, University Hospital Center of Nancy and Medical Faculty, University Henry Poincaré, 54500, Nancy, France
Curr Pharm Des 12:3335-45. 2006..In assessing the selectivity of the response, negative results in skin testing with cephalosporins other than the responsible one appear to be a reliable indicator of tolerability...
- Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2)Jean Louis Gueant
INSERM U 724, Cellular and Molecular Pathology in Nutrition, Faculte de Medecine, University Henry Poincaré of Nancy, Vandoeuvre les Nancy, France
J Med Genet 44:363-7. 2007..A 776C-->G variant (dbSNP ID: rs1801198) in the transcobalamin gene (TCN2; MIM# 275350) decreases the cellular and plasma concentration of transcobalamin and thereby influences the cellular availability of vitamin B(12)...
- Vitamin B12 is a strong determinant of low methionine synthase activity and DNA hypomethylation in gastrectomized ratsLaurent Brunaud
Cellular and Molecular Pathology in Nutrition, EMI, INSERM 0014, URM IFREMER 20, CHU Nancy Brabois, Vandoeuvre les Nancy, Nancy, France
Digestion 68:133-40. 2003..The aim of this study was to assess the respective influence of folate and vitamin B12 deficiency on MTR transcription and activity, and on DNA methylation...
- Methyl donor deficiency affects small-intestinal differentiation and barrier function in ratsAude Bressenot
INSERM U 954, Molecular and Cellular Pathology in Nutrition, Faculte de Medecine, CHU Nancy, Nancy Universite, 9 Avenue de la Forêt de Haye, BP 184, Nancy, 54500 Vandoeuvre, France
Br J Nutr 109:667-77. 2013..15·33%; villus 7 v. 17%). The MDD has dual effects on the small intestine by producing dramatic effects on enterocyte differentiation and barrier function in rats...
- Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French populationRosa Maria Guéant-Rodriguez
INSERM U 724, Laboratory of Cellular and Molecular Pathology in Nutrition, Faculty of Medicine, Vandoeuvre les Nancy Cedex, France
Thromb Haemost 94:510-5. 2005..5 (95% CI: 1.5-13.1, P = 0.0051). In conclusion, in contrast to North Europe studies, MTRRAA genotype is a genetic determinant of moderate hyperhomocysteinemia associated with CAD in a French population without vitamin fortification...
- Low frequency of mutated methylenetetrahydrofolate reductase 677C-->T and 1298A-->C genetics single nucleotide polymorphisms (SNPs) in Sub-Saharan populationsCharles E Adjalla
Laboratory of Cellular and Molecular Pathology in Nutrition, INSERM 00 14, Faculty of Medicine, Vandoeuvre les Nancy, France
Clin Chem Lab Med 41:1028-32. 2003..The 677TT low frequency may be related to the high effect of this mutation on homocysteine metabolism in the environmental conditions of this African region...
- Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populationsRosa Maria Guéant-Rodriguez
INSERM U 724, Cellular and Molecular Pathology in Nutrition, Faculte de Medecine, University Henry Poincaré of Nancy, Vandoeuvre les Nancy, France
Am J Clin Nutr 83:701-7. 2006..Distribution of MTHFR 1298A-->C is less well known. It has been hypothesized that 677T frequency could result in part from gene-nutrient interactions...
- Mild neonatal hypoxia exacerbates the effects of vitamin-deficient diet on homocysteine metabolism in ratsSébastien Blaise
INSERM U 724, Université H Poincaré, 54505 Vandoeuvre les Nancy, France
Pediatr Res 57:777-82. 2005..It could therefore potentiate the well-known adverse effects of hyperhomocysteinemia...
- Methyl deficient diet aggravates experimental colitis in ratsMin Chen
Inserm U954, Medical Faculty and CHU of Nancy, Nancy Universite, Nancy, France
J Cell Mol Med 15:2486-97. 2011..These findings suggest paying attention to vitamin B12 and folate deficits, frequently reported in IBD patients...
- Non-injurious neonatal hypoxia confers resistance to brain senescence in aged male ratsNicolas Martin
Inserm U954, Vandoeuvre les Nancy, France
PLoS ONE 7:e48828. 2012..Thus, early non-injurious hypoxia may trigger beneficial long term effects conferring higher resistance to senescence in aged male rats, with a better preservation of cognitive functions...
- Homocysteinylation of neuronal proteins contributes to folate deficiency-associated alterations of differentiation, vesicular transport, and plasticity in hippocampal neuronal cellsNassila Akchiche
Inserm U954, Faculte de Medecine, 9 Avenue de la Forêt de Haye, F 54500 Vandoeuvre les Nancy, France
FASEB J 26:3980-92. 2012..Prominent homocysteinylation of key neuronal proteins and subsequent aggregation certainly constitute major adverse effects of folate deficiency, affecting normal development with possible long-lasting consequences...
- Fumonisin FB1 treatment acts synergistically with methyl donor deficiency during rat pregnancy to produce alterations of H3- and H4-histone methylation patterns in fetusesHélène Pellanda
INSERM U954 Nutrition, Genetics, and Environmental Risk Exposure, Faculte de Medecine, Nancy Universite, Vandoeuvre les Nancy, France
Mol Nutr Food Res 56:976-85. 2012..Methyl-deficient diet (MDD) and fumonisin FB1 are risk factors for neural tube defects and cancers. Evidence indicates that FB1 impairs folate metabolism...
- Genetic determinants of folate and vitamin B12 metabolism: a common pathway in neural tube defect and Down syndrome?Jean Louis Gueant
INSERM 00 14, Laboratory of Cellular and Molecular Pathology in Nutrition, Faculty of Medicine Nancy, Vandoeuvre les Nancy, France
Clin Chem Lab Med 41:1473-7. 2003..The distinct data produced in different geographical areas may be explained by differences in the nutritional environment and genetic characteristics of the populations...
- High prevalence of hyperhomocysteinemia related to folate deficiency and the 677C-->T mutation of the gene encoding methylenetetrahydrofolate reductase in coastal West AfricaEmile K Amouzou
Laboratory of Cellular and Molecular Pathology in Nutrition, EMI INSERM 00 14, Vandoeuvre les Nancy, France
Am J Clin Nutr 79:619-24. 2004..Moderate hyperhomocysteinemia is a risk for neural tube defect and neurodegenerative and vascular diseases and has nutritional, metabolic, and genetic determinants. Its prevalence in sub-Saharan Africa remains unknown...
- Effects of vitamin B12 and folate deficiencies on DNA methylation and carcinogenesis in rat liverLaurent Brunaud
Laboratory of Cell and Molecular Pathology in Nutrition, INSERM EMI 0014 Medical Faculty, University of Nancy I, Vandoeuvre les Nancy, France
Clin Chem Lab Med 41:1012-9. 2003..In contrast, the effect of vitamin B12 withdrawal, in addition to choline, methionine and folate, induced hepatocellular carcinoma in less than 5% of rats...
- Methyl donor deficiency impairs fatty acid oxidation through PGC-1α hypomethylation and decreased ER-α, ERR-α, and HNF-4α in the rat liverShabnam Pooya
Inserm U954, Medical Faculty and CHU of Nancy, Nancy University, Nancy, France
J Hepatol 57:344-51. 2012..Methyl donor deficiency produces liver steatosis and predisposes to metabolic syndrome. Whether impaired fatty acid oxidation contributes to this steatosis remains unknown...
- Plasma soluble triggering receptor expressed on myeloid cells-1 in Crohn's diseaseVincent Billioud
Inserm U954, Université Henri Poincaré 1, Vandoeuvre les Nancy, France
Dig Liver Dis 44:466-70. 2012..No definite conclusions can be drawn from available data on the accuracy of soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) to assess disease activity in Crohn's disease...
- Differentiation and neural integration of hippocampal neuronal progenitors: signaling pathways sequentially involvedNassila Akchiche
Inserm U954, Vandoeuvre les Nancy, F 54500, France
Hippocampus 20:949-61. 2010..Finally, when seeded on rat hippocampal primary cultured neurons, a significant number of differentiated H19-7 cells were able to survive and to develop cell-cell communication...
- Gestational methyl donor deficiency alters key proteins involved in neurosteroidogenesis in the olfactory bulbs of newborn female rats and is associated with impaired olfactory performanceSarah El Hajj Chehadeh
Inserm U954, Faculte de Medecine de Nancy, Université de Lorraine, Vandoeuvre les Nancy, F 54500, France
Br J Nutr 111:1021-31. 2014..It may be involved in growth retardation through impaired suckling. ..
- Homocysteine increases methionine synthase mRNA level in Caco-2 cellsSandrine Ortiou
Laboratoire de Pathologie Cellulaire et Moleculaire en Nutrition, Equipe INSERM 0014, Faculte de Medecine, Vandoeuvre les Nancy, France
Cell Physiol Biochem 14:407-14. 2004..Methionine synthase (MTR) synthesizes methionine from homocysteine, using cobalamin as a cofactor and 5-methyltetrahydrofolate as a cosubstrate...
- Helicobacter pylori serologic status has no influence on the association between fucosyltransferase 2 polymorphism (FUT2 461 G->A) and vitamin B-12 in Europe and West AfricaAbderrahim Oussalah
INSERM U, Cellular and Molecular Pathology in Nutrition, Henri Poincaré University Nancy, Vandoeuvre les Nancy, France
Am J Clin Nutr 95:514-21. 2012..Genomewide association studies have shown a relation between plasma vitamin B-12 concentration and the 461G→A polymorphism of fucosyltransferase 2 (FUT2), a gene associated with susceptibility to Helicobacter pylori infection...
- Homocysteine is a determinant of ApoA-I and both are associated with ankle brachial index, in an ambulatory elderly populationRosa Maria Guéant-Rodriguez
Inserm U954, Medical Faculty and CHU of Nancy, University Henri Poincare, Nancy, France
Atherosclerosis 214:480-5. 2011..We aimed therefore to evaluate whether homocysteine and its nutritional determinants, folate and vitamin B12 are associated with ABI by influencing HDL metabolism, in an ambulatory elderly population...
- Submucosal plexitis as a predictor of postoperative surgical recurrence in Crohn's diseaseAude Bressenot
Inserm U954, Genetic Nutrition and Exposure to Environmental Risks NGERE, Henri Poincare University, Vandoeuvre les Nancy, France
Inflamm Bowel Dis 19:1654-61. 2013..We assessed the value of both submucosal and myenteric plexitis for predicting postoperative surgical recurrence in CD...
- Conditioning-like brief neonatal hypoxia improves cognitive function and brain tissue properties with marked gender dimorphism in adult ratsNicolas Martin
Inserm U954, Nancy Universite, Faculte de Medecine, Nancy, France
Semin Perinatol 34:193-200. 2010..Therefore, it is proposed that brief neonatal hypoxia may exert long-term beneficial effects through neurogenesis stimulation...
- A splicing variant leads to complete loss of function of betaine-homocysteine methyltransferase (BHMT) gene in hepatocellular carcinomaHélène Pellanda
INSERM U954 Nutrition, Genetics, and Environmental Risk Exposure, Faculte de Medecine, Nancy Universite, 9 Avenue de Forêt de Haye, 54500 Vandoeuvre Nancy, France
Int J Biochem Cell Biol 44:385-92. 2012..Whether this abnormal transcription of BHMT is part or consequence of liver carcinogenesis should deserve further investigations...
- Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemiaMa atem B Fofou-Caillierez
Inserm U954 Nutrition Genetics Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, Medical Faculty of Nancy University and University Hospital Centre, Nancy, France
Hum Mol Genet 22:4591-601. 2013..Our data suggest that the interaction of MS with MMACHC may play a role in the regulation of the cellular processing of Cbls that is required for Cbl cofactor synthesis. ..
- Association of MTRR 66A>G polymorphism with superoxide dismutase and disease activity in patients with Crohn's diseaseLaurent Peyrin-Biroulet
INSERM, U724, Laboratory of Cellular and Molecular Pathology in Nutrition, Faculty of Medicine, Vandoeuvre les Nancy, France
Am J Gastroenterol 103:399-406. 2008..The aim of this study was to evaluate the association of nutritional (folate, vitamin B12) and genetic (MTHFR, MTR, MTRR, TCN) determinants of homocysteine metabolism and of superoxide dismutase with Crohn's disease (CD)...
- Hyperhomocysteinemia is related to a decreased blood level of vitamin B12 in the second and third trimester of normal pregnancyCeline Chery
Laboratoire de Pathologie Cellulaire et Moleculaire en Nutrition, Equipe INSERM 00 14, Universite Henri Poincare, Nancy, France
Clin Chem Lab Med 40:1105-8. 2002..Subclinical deficiency of vitamin B12 should be further investigated in pregnant women who remain on inadequate diet...
- Association of IL1B polymorphism with left ventricular systolic dysfunction: a relation with the release of interleukin-1β in stress conditionRosa Maria Guéant-Rodriguez
Nutrition, Genetics and Environment, Inserm U954, Faculty of Medicine, Vandoeuvre les Nancy, Nancy, France
Pharmacogenet Genomics 21:579-86. 2011....
- Early methyl donor deficiency alters cAMP signaling pathway and neurosteroidogenesis in the cerebellum of female rat pupsSarah El Hajj Chehadeh
Institut National de la Sante et de la Recherche Medicale, U 954, Nutrition Génétique et Exposition aux Risques Environnementaux, Faculte de Medecine, Université de Lorraine, Vandoeuvre les Nancy, France
Am J Physiol Endocrinol Metab 307:E1009-19. 2014..In conclusion, a gestational methyl donor deficiency impairs neurosteroidogenesis in cerebellum in a sex-dependent manner. ..
- HLA-DRA variants predict penicillin allergy in genome-wide fine-mapping genotypingJean Louis Gueant
INSERM U 954, Faculte de Medecine, University of Lorraine and University Hospital Center CHU of Nancy, Nancy, France Electronic address
J Allergy Clin Immunol 135:253-9. 2015..Immediate reactions to β-lactams are the most common causes of anaphylactic reactions and can be life-threatening. The few known genetic factors influencing these reactions suggest a link with atopy and inflammation...
- Familial pernicious anaemia with hyperhomocysteinaemia in recurrent early pregnancy lossJean Louis Gueant
INSERM 0014, University Hospital of Nancy, Vandoeuvre les Nancy, France
Thromb Haemost 92:1147-9. 2004
- Gestational vitamin B deficiency leads to homocysteine-associated brain apoptosis and alters neurobehavioral development in ratsSébastien A Blaise
INSERM U 724, Faculte de Medecine, 9 Avenue de la Forêt de Haye, B P 184, 54500 Vandoeuvre les Nancy, France
Am J Pathol 170:667-79. 2007....
- Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7Fares Namour
Faculte de Medecine, INSERM U954 Nutrition, Genetics, and Environmental Risk Exposure, Vandoeuvre les Nancy, France
Haematologica 96:1715-9. 2011..Heterozygous carriers for c.742T and c.208-2G had no pathological signs. These results indicate that amnionless is essential for the correct luminal expression of cubilin in humans...
- Vitamin B12 deficiency reduces proliferation and promotes differentiation of neuroblastoma cells and up-regulates PP2A, proNGF, and TACEShyue Fang Battaglia-Hsu
Institut National de la Santé et de la Recherche Médicale U954, Faculte de Medecine, Nancy Universite, F 54505 Vandoeuvre les Nancy, France
Proc Natl Acad Sci U S A 106:21930-5. 2009....
- Folate and fetal programming: a play in epigenomics?Jean Louis Gueant
Institut National de la Santé et de la Recherche Médicale INSERM Unité 954, Department of Nutrition Genetics Environmental Risk Exposure, University of Lorraine and University Hospital of Nancy, Vandoeuvre les Nancy, France
Trends Endocrinol Metab 24:279-89. 2013..Deciphering these mechanisms will help understanding the discordances between experimental models and population studies of folate deficiency and supplementation...
- Genetic predictors of inflammation in the risk of occupational asthma in young apprenticesDovi Stéphanie Acouetey
Nutrition, Genetics and Environment, Inserm U954, Faculty of Medecine, Vandoeuvre les Nancy, France
Ann Allergy Asthma Immunol 110:423-428.e5. 2013..The influence of genetic predictors of inflammation and atopy on occupational asthma in apprentices is not known...
- Gene-gene interactions of IL13 and IL4RA variants in immediate allergic reactions to betalactam antibioticsRosa Maria Guéant-Rodriguez
INSERM U 724, Faculte de Medecine, University of Nancy Henri Poincaré and Department of Clinical Chemistry, Nutrition and Metabolism, University Hospital, Nancy Vandoeuvre, France
Pharmacogenet Genomics 16:713-9. 2006..We aimed to evaluate the association between immediate allergic reactions to betalactams and the polymorphisms of IL13 (R130Q and -1055C>T variants) and IL4RA (I50V, S478P, and Q551R variants)...
- Colorectal cancer in inflammatory bowel diseases: a population-based study (1976-2008)Laurent Peyrin-Biroulet
INSERM, U954 and Department of Hepato Gastroenterology, University Hospital of Nancy, Université Henri Poincaré 1, Vandoeuvre les Nancy, France
Inflamm Bowel Dis 18:2247-51. 2012..Few data are available on the incidence, characteristics, treatment, and prognosis of inflammatory bowel disease (IBD)-associated colorectal cancer (CRC) in population-based cohorts...
- Microscopic features for initial diagnosis and disease activity evaluation in inflammatory bowel diseaseAude Bressenot
Inserm U954, Medical Faculty and CHU of Nancy, Nancy Universite, Nancy, France
Inflamm Bowel Dis 19:1745-52. 2013..The aim of this review was to summarize microscopic features of inflammatory bowel disease for initial diagnosis and evaluation of disease activity in both CD and UC...
- Molecular and cellular effects of vitamin B12 in brain, myocardium and liver through its role as co-factor of methionine synthaseJean Louis Gueant
Inserm U954, Department of Nutrition Genetics Environmental Risk Exposure, University of Lorraine and University Hospital of Nancy, Vandoeuvre les Nancy, France
Biochimie 95:1033-40. 2013..Some but not all of these effects reflect the upstream role of vitamin B12 in SAM synthesis...
- Mice deficient in cystathionine beta synthase display altered homocysteine remethylation pathwayJean Marc Alberto
INSERM U724, Faculte de Medecine, Vandoeuvre les Nancy, France
Mol Genet Metab 91:396-8. 2007..We showed that CBS deficiency in mice reduced hepatic methionine synthase and betaine-homocysteine methyltransferase activities, whereas 5,10-methylene tetrahydrofolate reductase activity was increased...
- Urinary tract infections in hospitalized inflammatory bowel disease patients: a 10-year experienceLaurent Peyrin-Biroulet
INSERM, U954 and Department of Hepato Gastroenterology, University Hospital of Nancy, Vandoeuvre les Nancy, France
Inflamm Bowel Dis 18:697-702. 2012..Cystitis is the most common genitourinary complication in Crohn's disease (CD). We assessed the prevalence of and risk factors for urinary tract infections (UTI) in inflammatory bowel diseases (IBD)...
- Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemiaFrancois Feillet
Reference Centre for Inborn Errors of Metabolism, Department of Pediatry, CHU of Nancy, Allee du Morvan, Vandoeuvre les Nancy, 54500, France
Early Hum Dev 84:561-7. 2008..The outcome in phenylketonuria is related to the early diagnosis and management due to neonatal screening...
- Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiencyFrancois Feillet
Centre de Référence des Maladies Héréditaires du Métabolisme et Inserm U724, CHU et Faculté de Médecine de Nancy, France
J Hepatol 48:517-22. 2008..Our case clearly shows that cataplerosis could play a role in the pathophysiology of the neonatal liver disease observed in classical galactosemia...
- Constitutive nitric oxide synthase inhibition combined with histamine and serotonin receptor blockade improves the initial ovalbumin-induced arterial hypotension but decreases the survival time in brown norway rats anaphylactic shockAbdelouahab Bellou
Experimental Nephrology Laboratory, Vandoeuvre les Nancy, 54505, France
Shock 19:71-8. 2003..Thus, the combined blockade of vasodilator mediators (histamine, serotonin, and nitric oxide) slowed the MABP drop in anaphylactic shock, but did not improve survival. More studies are needed to understand these discordant effects...
- Methylenetetrahydrofolate reductase 677 T allele protects against persistent HBV infection in West AfricaJean Pierre Bronowicki
INSERM U724, Cellular and Molecular Pathology in Nutrition, Faculte de Medecine, University Henri Poincaré of Nancy, Vandoeuvre les Nancy, France
J Hepatol 48:532-9. 2008..We evaluated the association of determinants of homocysteine metabolism with the outcome of HBV infection...
- Purification and cloning of two high molecular mass isoforms of peanut seed oleosin encoded by cDNAs of equal sizesLaurent Pons
Laboratoire de Pathologie Cellulaire et Moleculaire en Nutrition, INSERM EMI 0014, Faculte de Medecine, Universite Henri Poincare Nancy 1, BP 184, 54505 Vandaeuvre lès Nancy Cedex, France
Plant Physiol Biochem 43:659-68. 2005..Oligomers reflect the natural ability of oleosins to strongly interact with each other via not only their central domains but also their N- and C-terminal domains...
- Hypersensitivity reactions to iodinated contrast mediaRosa Maria Guéant-Rodriguez
INSERM U 724, Laboratory of Cellular and Molecular Pathology in Nutrition, Faculty of Medicine, B P 184 54505 Vandoeuvre les Nancy Cedex, France
Curr Pharm Des 12:3359-72. 2006..This paper summarizes the current state of the art and addresses the research that is still needed on the pathogenic mechanisms, diagnosis, and prevention of ICM-induced hypersensitivity reactions...
- Influence of preconditioning-like hypoxia on the liver of developing methyl-deficient ratsSébastien A Blaise
INSERM U724, Faculte de Medecine, 9 ave de la forêt de Haye, BP 184, F 54500 Vandoeuvre les Nancy, France
Am J Physiol Endocrinol Metab 293:E1492-502. 2007....
- Lack of association between microsatellite instability and benign adrenal tumorsFares Namour
Department of Biochemistry, CHU Nancy Brabois, INSERM U724, Allee du Morvan, 54511, Vandoeuvre les Nancy, France
World J Surg 30:1240-6. 2006..The genetic mechanisms underlying the formation of these tumors include somatic mutations in susceptibility genes, especially in the familial forms, and allelic loss, especially in chromosome 1...
- Serum concentrations of sex hormone binding globulin are elevated in kwashiorkor and anorexia nervosa but not in marasmusNathalie Pascal
Laboratoire de Pathologie Cellulaire et Moleculaire en Nutrition, EMI INSERM 0014 et URM IFREMER 20, Faculte de Medecine, Vandoeuvre, France
Am J Clin Nutr 76:239-44. 2002..Customary blood protein markers for malnutrition are of limited value in the diagnosis of protein-energy malnutrition or anorexia nervosa in children and in the follow-up to refeeding in such children...
- Inhibition by TNF-alpha and IL-4 of cationic lipid mediated gene transfer in cystic fibrosis tracheal gland cellsSonia Bastonero
Laboratoire de Pathologie Cellulaire et Moleculaire en Nutrition, INSERM U724, Faculte de Medecine, BP 184, 54505 Vandoeuvre les Nancy, France
J Gene Med 7:1439-49. 2005..This gene is mutated in the lethal monogenic disease cystic fibrosis (CF). Clinical trials in which the human CFTR cDNA was delivered to the respiratory epithelia of CF patients have resulted in weak and transient gene expression...
- Early incidence of occupational asthma among young bakers, pastry-makers and hairdressers: design of a retrospective cohort studyThomas Rémen
Institut National de la santé et de la Recherche Médicale U 954, School of Medicine, Nancy, France
BMC Public Health 10:206. 2010....
- Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patientsThierry Forges
INSERM U954 Nutrition, Genetics, and Environmental Risk Exposure, Faculte de Medecine, 9 Avenue de la Forêt de Haye, Vandoeuvre les Nancy, France
Mol Genet Metab 100:143-8. 2010..Characterization of the relatives further allows for preventive measure to limit the risks of chronic hyperhomocysteinemia...
- Cobalamin potentiates vinblastine cytotoxicity through downregulation of mdr-1 gene expression in HepG2 cellsVéronique Marguerite
Laboratoire de Pathologie Cellulaire et Moleculaire en Nutrition, Faculte de Medecine, University Henry Poincaré, Vandoeuvre les Nancy, Cedex, France
Cell Physiol Biochem 20:967-76. 2007..We here used HepG2 cells to determine the role of the methionine cycle (through the use of the Methionine-Synthase (MS) cofactor, cobalamin) on mdr-1 gene expression...
- Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemiaThierry Forges
Inserm U954, Nutrition, Genetics, and Environmental Risk Exposure, Nancy University Medical School, and Department of Pediatrics and Clinical Genetics, University Hospital of Nancy, Vandoeuvre les Nancy, France
Fertil Steril 95:290.e1-3. 2011..To report two consecutive spontaneous pregnancies in a compound heterozygous patient with classic galactosemia and a heterozygous partner, 6 years after ovarian tissue cryopreservation...
- Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifidaEmmanuel Rat
Equipe d accueil EA2679, Faculte de Medecine, Lille Cedex, France
Birth Defects Res A Clin Mol Teratol 76:491-8. 2006..As RA is a critical regulator of gene expression during embryonic development, the imbalance between the synthesis and degradation of RA during embryogenesis could contribute to malformations and developmental defects...
- Ocular symptoms are not predictive of ophthalmologic inflammation in inflammatory bowel diseaseVéronique Cloché
Department of Ophthalmology, Nancy University Hospital, Vandoeuvre les Nancy, France
Dig Liver Dis 45:195-9. 2013..Ocular manifestations are frequent in patients with inflammatory bowel disease...
- Anchoring secreted proteins in endoplasmic reticulum by plant oleosin: the example of vitamin B12 cellular sequestration by transcobalaminLaurent Pons
Inserm U954, Faculte de Medecine, Nancy Universite, Vandoeuvre les Nancy, France
PLoS ONE 4:e6325. 2009..This was achieved by the overexpression of transcobalamin inside cells through anchoring to oleosin...