Helene Dauchel's Publications List

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

2012-04-23T16:07:15Z

C. Pottier, D. Hannequin, S. Coutant, A. Rovelet-Lecrux, D. Wallon, S. Rousseau, S. Legallic, C. Paquet, S. Bombois, J. Pariente, C. Thomas-Anterion, A. Michon, B. Croisile, F. Etcharry-Bouyx, C. Berr, J. Dartigues, P. Amouyel, H. Dauchel, C. Boutoleau-Bretonnière, C. Thauvin, T. Frebourg, J. Lambert, D. Campion (2012) European Human Genetics Conference 2012, Nürnberg, Germany, June 23-26, 2012

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.

2012-04-23T15:56:49Z

Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) and presenilin2 (PSEN2)), we found that in five patients, the SORL1 gene harbored unknown nonsense (n=1) or missense (n=4) mutations. These mutations were not retrieved in 1500 controls of same ethnic origin. I...

C Pottier, D Hannequin, S Coutant, A Rovelet-Lecrux, D Wallon, S Rousseau, S Legallic, C Paquet, S Bombois, J Pariente, C Thomas-Anterion, A Michon, B Croisile, F Etcharry-Bouyx, C Berr, J-F Dartigues, P Amouyel, H Dauchel, C Boutoleau-Bretonnière, C Thauvin, T Frebourg, J-C Lambert, D Campion (2012) Mol Psychiatry :

EVA: Exome Variation Analyzer, a convivial tool for filtering strategies

2012-03-13T14:24:34Z

S. Coutant, A. Lefebvre, M. Léonard, É. Prieur-Gaston, D. Campion, T. Lecroq and H. Dauchel (2011) Proceedings of the Eleven International Workshop on Network Tools and Application in Biology: Clinical Bioinformatics (NETTAB 2011), Pavia, Italy, 2011) 25-29.

Poisson Approximation for the number of repeats in a Markov chain model

2008-10-18T08:41:15Z

Detection of repeated sequences within complete genomes is a powerful tool to help understanding genome dynamics and species evolutionary history. To distinguish significant repeats from those that can be obtained just by chance, statistical methods have to be developed. In this paper we show that the distribution of the number of long repeats in long sequences generated by stationary Markov chain...

N. Touyar, S. Schbath, D. Cellier , H. Dauchel. (2008) Journal of Applied Probability 45: 2 440-445

Identification and isolation of a pectin methylesterase isoform that could be involved in flax cell wall stiffening.

2012-04-23T15:58:54Z

Pectin methylesterases (PMEs) are ubiquitous enzymes present in the plant cell wall. They catalyse the demethylesterification of homogalacturonic acid units of pectins, which, in turn, can be associated with different physiological phenomena. In this study, different flax (Linum usitatissimum L.) PME isoforms were observed: neutral (pI 7.0 and 7.5, MW: 110 kDa), basic (pI 8.3 and 8.5, MW: 110 kDa)...

Suha Al-Qsous, Emilie Carpentier, Dominique Klein-Eude, Carole Burel, Alain Mareck, Hélène Dauchel, Véronique Gomord, Alain Pierre Balangé (2004) Planta 219: 2 369-378

FORRepeats: detects repeats on entire chromosomes and between genomes.

2008-04-30T11:38:05Z

MOTIVATION: As more and more whole genomes are available, there is a need for new methods to compare large sequences and transfer biological knowledge from annotated genomes to related new ones. BLAST is not suitable to compare multimegabase DNA sequences. MegaBLAST is designed to compare closely related large sequences. Some tools to detect repeats in large sequences have already been developed s...

A Lefebvre, T Lecroq, H Dauchel, J Alexandre (2003) Bioinformatics 19: 3 319-326

Poisson Approximation of the distribution of the number of repeats in biological sequences modeled by Markov chain

2008-04-30T12:25:40Z

N. Touyar, D. Cellier, S. Schbath, H. Dauchel. (2003) Currents in Computational Molecular Biology, VIIth international annual conference RECOMB (Research in Computational Molecular Biology), Berlin, Germany pp77-78

Introduction à la bioinformatique, XV-375 p. Book translated in French from C. Gibas, P. Jambeck. Developing Bioinformatics Computer skills, O’Reilly, 2001.

2008-10-19T08:30:49Z

Summary on line : http://books.google.fr/books?id=UGiIukpGRAcC

H. Dauchel, I. Milazzo, L. Mouchard. (2002) :

Isolation of a flax pectin methylesterase promoter and its expression in transgenic tobacco.

2008-04-30T13:51:11Z

Pectin methylesterases (PME) catalyze the de-esterification of methoxylated pectins in plant cell walls. We have isolated a 1.9 kb regulatory region upstream from the Lupme3 coding sequence of Linum usitatissimum L. (flax) using a 'Polymerase Chain Reaction (PCR) walking' strategy. Two 5' truncated deletion fragments (1.5 and 0.44 kb) of this potential promoter sequence were inserted upstream of t...

D.Roger, J. Lacoux, F. Lamblin, Gaillet, H. Dauchel, D. Klein, A. Balange, H. David, E. Lainé (2001) Plant Sci 160: 4 713-721

Pectin methylesterases pattern in the flax seedlings during their development.

2008-04-30T12:54:33Z

F. Alexandre, O.Morvan, J.Gaffe, A.Mareck , A.Jauneau, H.Dauchel, A.P.Balange and C.Morvan (1997) Plant Physiol. Biochem. 35: 427-436

Activation of the endothelium by IL-1 alpha and glucocorticoids results in major increase of complement C3 and factor B production and generation of C3a.

2008-04-30T11:38:05Z

Constitutive secretion of complement C3 and factor B by the endothelial cell (EC) is lowered by therapeutic concentrations of glucocorticoids such as hydrocortisone or dexamethasone, whereas regulatory protein factor H production is increased by these hormones. In contrast, the proinflammatory cytokine IL-1 alpha has a stimulatory effect on C3 and factor B secretion by the endothelium and an inhib...

M Coulpier, S Andreev, C Lemercier, H Dauchel, O Lees, M Fontaine, J Ripoche (1995) Clin Exp Immunol 101: 1 142-149

Local and systemic activation of the whole complement cascade in human leukocytoclastic cutaneous vasculitis; C3d,g and terminal complement complex as sensitive markers.

2008-04-30T11:38:05Z

We have studied complement activation both in plasma samples and in lesional skin from patients with leukocytoclastic cutaneous vasculitis (LCV). Enzyme immunoassay (EIA) quantification of the complement activation markers, C3d,g and the terminal complement complex (TCC) in plasma, showed that their levels were significantly increased in 66% and 55% of the patients, respectively (n = 29) compared ...

H Dauchel, P Joly, A Delpech, E Thomine, F Sauger, X Le Loet, P Lauret, F Tron, M Fontaine, J Ripoche (1993) Clin Exp Immunol 92: 2 274-283

Differential modulation by glucocorticoids of alternative complement protein secretion in cells of the monocyte/macrophage lineage.

2012-04-23T15:58:54Z

The effect of the synthetic glucocorticoid dexamethasone (DXM) on the secretion by human monocytes of alternative complement proteins C3, factor B and factor H was investigated. Results indicated that DXM modulates this secretion in a direction which would be consistent with its anti-inflammatory properties. DXM, at therapeutic concentrations, had a suppressive effect on C3 and factor B secretion ...

C Lemercier, N Julen, M Coulpier, H Dauchel, D Ozanne, M Fontaine, J Ripoche (1992) Eur J Immunol 22: 4 909-915

In vitro biosynthesis of complement factor I by human endothelial cells.

2012-04-23T15:58:54Z

We have studied the secretion of the complement regulatory protein factor I by human umbilical vein endothelial cells (HUVEC). Northern and Western blot analysis and biosynthetic labeling experiments indicate that HUVEC secrete factor I at very low levels in basal conditions and that this secretion is significantly enhanced by interferon-gamma. Analysis of the proteolytic inactivation of C3b by HU...

N Julen, H Dauchel, C Lemercier, R B Sim, M Fontaine, J Ripoche (1992) Eur J Immunol 22: 1 213-217

Study of the complement system. General principles and perspectives

2008-04-30T11:38:05Z

Measurement of complement in clinical medicine is traditionally based on the determination of CH50 and immunochemical and/or functional measurement of complement proteins C1q, factor B, C3 and C4. The interpretation of these measurements, as far as complement activation is concerned, can however be difficult as these tests do not allow to discriminate between consumption due to activation, heredit...

N Julen, H Dauchel, C Lemercier, M Daveau, M Fontaine, F Sauger, B Maitrot, J Ripoche (1990) Ann Biol Clin (Paris) 48: 6 349-360

Expression of complement alternative pathway proteins by endothelial cells. Differential regulation by interleukin 1 and glucocorticoids.

2012-04-23T15:58:54Z

We have studied the secretion of proteins of the alternative pathway of complement C3, factor B and factor H by human umbilical vein endothelial cells (HUVEC). Results showed that factor H and factor B are quantitatively secreted in abundance whereas C3 could only be detected when the cells are maintained in culture during long periods of time. Interferon-gamma stimulated factor H, factor B and, t...

H Dauchel, N Julen, C Lemercier, M Daveau, D Ozanne, M Fontaine, J Ripoche (1990) Eur J Immunol 20: 8 1669-1675

Les protéines régulatrices du système du complément, review in french ;

2008-10-19T08:31:35Z

J.Ripoche, M.J.Demares, N.Julen, C.Lemercier, H.Dauchel, C.Davrinche, M.Daveau, M.Fontaine (1989) Médecine/Sciences 5: 234-243