43 results on '"Raux, G"'
Search Results
2. Hyperprolinemia is a risk factor for schizoaffective disorder
- Author
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Jacquet, H, Demily, C, Houy, E, Hecketsweiler, B, Bou, J, Raux, G, Lerond, J, Allio, G, Haouzir, S, Tillaux, A, Bellegou, C, Fouldrin, G, Delamillieure, P, Ménard, J F, Dollfus, S, D'Amato, T, Petit, M, Thibaut, F, Frébourg, T, and Campion, D
- Published
- 2005
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3. The −2 bp deletion in exon 6 of the ‘alpha 7-like’ nicotinic receptor subunit gene is a risk factor for the P50 sensory gating deficit
- Author
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Raux, G, Bonnet-Brilhault, F, Louchart, S, Houy, E, Gantier, R, Levillain, D, Allio, G, Haouzir, S, Petit, M, Martinez, M, Frebourg, T, Thibaut, F, and Campion, D
- Published
- 2002
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4. The promoter −194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit
- Author
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Houy, E, Raux, G, Thibaut, F, Belmont, A, Demily, C, Allio, G, Haouzir, S, Fouldrin, G, Petit, M, Frebourg, T, and Campion, D
- Published
- 2004
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5. Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update
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Raux, G, Guyant-Maréchal, L, Martin, C, Bou, J, Penet, C, Brice, A, Hannequin, D, Frebourg, T, and Campion, D
- Published
- 2005
6. Pemphigus is not associated with allotypic markers of immunoglobulin kappa
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Zitouni, M, Martel, P, Ben Ayed, M, Raux, G, Gilbert, D, Joly, P, Mokhtar, I, Ridha Kamoun, M, Turki, H, Zahaf, A, Mokni, M, Ben Osman, A, Masmoudi, H, Makni, S, and Tron, F
- Published
- 2002
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7. A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease
- Author
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Martel, P, Gilbert, D, Drouot, L, Prost, C, Raux, G, Delaporte, E, Joly, P, and Tron, F
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- 2001
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8. The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene
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Jacquet, H, Berthelot, J, Bonnemains, C, Simard, G, Saugier-Veber, P, Raux, G, Campion, D, Bonneau, D, and Frebourg, T
- Published
- 2003
9. DETERMINATION OF SUSCEPTIBILITY FACTORS IN PEMPHIGUS AND BULLOUS PEMPHIGOID: GENETIC POLYMORPHISM OF IMMUNOGLOBULIN HEAVY AND LIGHT CHAIN GENES.
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Raux, G., Christ, M., Gilbert, D., Joly, P., Lauret, Ph., Prost, C., Roujeau, J. C., Lefranc, M P., and Tron, F.
- Published
- 1997
10. Analysis of the involvement of the 2 bp deletion polymorphism of the alpha7 nicotinic acetylcholine receptor gene in P50 sensory gating deficit associated to schizophrenia
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Bonnet-Brilhault, F., Raux, G., Louchart, S., Houy, E., Petit, M., Thibaut, F., Campion, D., and Frebourg, T.
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Genetic research -- Analysis ,Human genetics -- Research ,Schizophrenia -- Genetic aspects ,Biological sciences - Published
- 2000
11. The -2 bp deletion in exon 6 of the 'alpha 7-like' nicotinic receptor subunit gene is a risk factor for the P50 sensory gating deficit.
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Raux, G., Bonnet-Brilhault, F., Louchart, S., Houy, E., Gantier, R., Levillain, D., Allio, G., Haouzir, S., Petit, M., Martinez, M., Frebourg, T., Thibault, F., and Campion, D.
- Subjects
CHOLINERGIC receptors ,AUDITORY evoked response ,GENETICS of schizophrenia - Abstract
Demonstrates that a two base pair deletion in alpha 7 nicotinic acetylcholine receptor-like gene located in chromosome 15 is a risk factor for P50 auditory-evoked potential gating. Association of abnormality in P50 sensory gating with schizophrenia; Types of genetic variations affecting the gene.
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- 2002
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12. Comparison of Structural Characteristics of Antisubnucleosome and Anti-DNA Monoclonal Antibodies Derived from Lupus Micea.
- Author
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KOUTOUZOV, S., JOVELIN, F., BRARD, F., RAUX, G., TRON, F., and GILBERT, D.
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- 1997
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13. The promoter -194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit.
- Author
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Houy, E., Raux, G., Thibaut, F., Belmont, A., Demily, C., Allio, G., Haouzir, S., Fouldrin, G., Petit, M., Frebourg, T., and Campion, D.
- Subjects
GENETIC polymorphisms ,NICOTINIC receptors ,GENES ,PHENOTYPES ,PEOPLE with schizophrenia ,GENETICS - Abstract
As suggested by several studies, abnormal sensory gating measured by the P50 paradigm could be an endophenotype predisposing to schizophrenia. In a previous work, we have shown a significant association between the presence of at least one -2?bp deletion located within exon 6 of the CHRNA7-like gene and the P50 abnormality in the general population. A recent study involved polymorphisms located in the core promoter region of the CHRNA7 gene as risk factors for the P50 inhibitory deficit. Screening for promoter variants in a large population of schizophrenic patients (n=111) and control subjects (85), for whom auditory-evoked potentials had been recorded did not allow us to replicate these results. By contrast, we showed a significant association between the -194 C allele and a T/C ratio <0.45, thus demonstrating a protective effect of this variant for the sensory gating deficit. Such conflicting results can be reconciled if we consider that the -194 C polymorphism has no causative effect, but is in linkage disequilibrium with other causal variations for the P50 sensory gating deficit, and that different alleles are in disequilibrium in different populations.Molecular Psychiatry (2004) 9, 320-322. doi:10.1038/sj.mp.4001443 Published online 21 October 2003 [ABSTRACT FROM AUTHOR]
- Published
- 2004
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14. Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu).
- Author
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Portet F, Dauvilliers Y, Campion D, Raux G, Hauw JJ, Lyon-Caen O, Camu W, Touchon J, Portet, F, Dauvilliers, Y, Campion, D, Raux, G, Hauw, J J, Lyon-Caen, O, Camu, W, and Touchon, J
- Published
- 2003
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15. A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.
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Raux, G., Gantier, R., Martin, C., Pothin, Y., Brice, A., Frebourg, T., and Campion, D.
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- 2000
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16. Bilateral hypoglossal nerve stimulation for treatment of obstructive sleep apnea.
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Eastwood, P., Barnes, M., Mackay, S., Wheatley, J., Hillman, D., Nguyen, X.-L., Lewis, R., Campbell, M., Petelle, B., Walsh, J., Jones, A., Palme, C., Bizon, A., Meslier, N., Bertolus, C., Maddison, K., Laccourreye, L., Raux, G., Denoncin, K., and Attali, V.
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NEURAL stimulation , *SLEEP apnea syndromes - Published
- 2019
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17. Determination of susceptibility factors in bullous pemphigoid: Genetic polymorphisms of immunoglobulin light-chain genes
- Author
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Raux, G., Gilbert, D., Joly, P., Daveau, M., Tron, F., and Lauret, Ph.
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- 1998
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18. Intracellular and extracellular epidermal antigens are recognized by different IgG subclass in autoimmune bullous skin diseases
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Joly, P., Gilbert, D., Raux, G., Thomine, E., Lauret, Ph., and Tron, F.
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- 1998
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19. Control of OSA in a patient with CCC of soft palate using bilateral hypoglossal nerve stimulation.
- Author
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Lewis R, Le J, Czank C, and Raux G
- Abstract
Patients with complete concentric collapse of the redropalatal airway are excluded from unilateral hypoglossal nerve stimulation. This case report shows good control of OSA in a patient with CCC with a new bilateral hypoglossal nerve stimulator., Competing Interests: Dr R. Lewis is the PI for the Better Sleep Trial and is a paid consultant for Nyxoah SA., (© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
- Published
- 2021
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20. Bilateral hypoglossal nerve stimulation for treatment of adult obstructive sleep apnoea.
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Eastwood PR, Barnes M, MacKay SG, Wheatley JR, Hillman DR, Nguyên XL, Lewis R, Campbell MC, Pételle B, Walsh JH, Jones AC, Palme CE, Bizon A, Meslier N, Bertolus C, Maddison KJ, Laccourreye L, Raux G, Denoncin K, Attali V, Gagnadoux F, and Launois SH
- Subjects
- Adult, Australia, Female, France, Humans, Male, Prospective Studies, Quality of Life, Treatment Outcome, Hypoglossal Nerve, Sleep Apnea, Obstructive therapy
- Abstract
Background and Aim: Hypoglossal nerve stimulation (HNS) decreases obstructive sleep apnoea (OSA) severity via genioglossus muscle activation and decreased upper airway collapsibility. This study assessed the safety and effectiveness at 6 months post-implantation of a novel device delivering bilateral HNS via a small implanted electrode activated by a unit worn externally, to treat OSA: the Genio™ system., Methods: This prospective, open-label, non-randomised, single-arm treatment study was conducted at eight centres in three countries (Australia, France and the UK). Primary outcomes were incidence of device-related serious adverse events and change in the apnoea-hypopnoea index (AHI). The secondary outcome was the change in the 4% oxygen desaturation index (ODI). Additional outcomes included measures of sleepiness, quality of life, snoring and device use. This trial was registered with ClinicalTrials.gov, number NCT03048604., Results: 22 out of 27 implanted participants (63% male, aged 55.9±12.0 years, body mass index (BMI) 27.4±3.0 kg·m
-2 ) completed the protocol. At 6 months BMI was unchanged (p=0.85); AHI decreased from 23.7±12.2 to 12.9±10.1 events·h-1 , a mean change of 10.8 events·h-1 (p<0.001); and ODI decreased from 19.1±11.2 to 9.8±6.9 events·h-1 , a mean change of 9.3 events·h-1 (p<0.001). Daytime sleepiness (Epworth Sleepiness Scale; p=0.01) and sleep-related quality of life (Functional Outcomes of Sleep Questionnaire-10; p=0.02) both improved significantly. The number of bed partners reporting loud, very intense snoring, or leaving the bedroom due to participant snoring decreased from 96% to 35%. 91% of participants reported device use >5 days per week, and 77% reported use for >5 h per night. No device-related serious adverse events occurred during the 6-month post-implantation period., Conclusions: Bilateral HNS using the Genio™ system reduces OSA severity and improves quality of life without device-related complications. The results are comparable with previously published HNS systems despite minimal implanted components and a simple stimulation algorithm., Competing Interests: Conflict of interest: P.R. Eastwood reports support for undertaking trials from Nyxoah SA, during the conduct of the study; support for undertaking trials from Oventus Pty Ltd and Zelda Therapeutics, outside the submitted work. Conflict of interest: M. Barnes has nothing to disclose. Conflict of interest: S.G. MacKay reports grants from NHMRC and Garnett-Passe RWF (conjoint grant), outside the submitted work. Conflict of interest: J.R. Wheatley reports grants from Nyxoah, during the conduct of the study. Conflict of interest: D.R. Hillman reports support for undertaking trials from Nyxoah SA, during the conduct of the study; support for undertaking trials from Oventus Pty Ltd and Zelda Therapeutics, outside the submitted work. Conflict of interest: X-L. Nguyên reports grants from Serenity Medical Services, during the conduct of the study. Conflict of interest: R. Lewis reports personal fees from Nyxoah SA, during the conduct of the study. Conflict of interest: M.C. Campbell reports personal fees from Nyxoah, outside the submitted work. Conflict of interest: B. Pételle reports consultancy fees from Bluesom, support for meeting attendance from Nyxoah, outside the submitted work. Conflict of interest: J.H. Walsh reports support for undertaking trials from Nyxoah SA, during the conduct of the study; support for undertaking trials from Oventus Pty Ltd and Zelda Therapeutics, outside the submitted work. Conflict of interest: A.C. Jones reports personal fees from Nyxoah, during the conduct of the study. Conflict of interest: C.E. Palme reports personal fees from Nyoxah, during the conduct of the study. Conflict of interest: A. Bizon has nothing to disclose. Conflict of interest: N. Meslier has nothing to disclose. Conflict of interest: C. Bertolus has nothing to disclose. Conflict of interest: K.J. Maddison has undertaken sponsored research projects for Nyxoah Pty Ltd, during the conduct of the study; has undertaken sponsored research projects for Nyxoah Pty Ltd, Oventus Pty Ltd and Zelda Pty Ltd, and reports grants from Sir Charles Gairdner Hospital and Australian and New Zealand College of Anaesthetists, outside the submitted work. Conflict of interest: L. Laccourreye reports non-financial support from Medtronic France and Integra LifeSciences Services, outside the submitted work. Conflict of interest: G. Raux has nothing to disclose. Conflict of interest: K. Denoncin has nothing to disclose. Conflict of interest: V. Attali reports personal fees for consultancy from Nyxoah, during the conduct of the study; personal fees for lectures from Resmed, institutional fees for research from Imthera, outside the submitted work. Conflict of interest: F. Gagnadoux has nothing to disclose. Conflict of interest: S.H. Launois is an employee of Serenity Medical Services/Bioserenity, reports personal fees for lectures from Cidelec, travel and/or meeting expenses from Vitalaire, S2A Santé Asten La Poste and UCB Pharma, grants from Resmed, outside the submitted work., (Copyright ©ERS 2020.)- Published
- 2020
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21. Implantation of the nyxoah bilateral hypoglossal nerve stimulator for obstructive sleep apnea.
- Author
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Lewis R, Pételle B, Campbell MC, MacKay S, Palme C, Raux G, Sommer JU, and Maurer JT
- Abstract
Objectives: This report describes the surgical implantation of a novel bilateral hypoglossal nerve stimulator (Genio system®, Nyxoah S.A., Belgium) and the successful treatment of a patient with moderate obstructive sleep apnea (OSA)., Study Design: Surgical technique description and case study report., Methods: The bilateral implantable stimulator (IS) simultaneously stimulates both genioglossus (GG) muscles to reduce airway obstruction. At night, patients wear an activation chip under their chin that wirelessly transmits energy to the implant and enables the nerve stimulation. Surgical implantation of the IS is performed under general anesthesia by making a small incision above the hyoid bone and dissecting through the platysma, mylohyoid, and geniohyoid muscles to the GG muscle. The hypoglossal nerve branches are then identified, followed by suturing the IS in place. The system was evaluated in an otherwise healthy, 60-year-old woman with moderate OSA (apnea hypopnea index (AHI): 25/hr, nadir O
2 saturation: 78%). Appropriate stimulation settings were determined at 2-, 3-, and 6-months post implantation during polysomnography (PSG) and changes in apnea and hypopnea events and oxygen desaturation recorded., Results: The surgery was well tolerated by the patient with an uneventful recovery. The PSG at 6 months showed that AHI per hour, obstructive apnea events per hour, hypopnea events per hour, and oxygen desaturation index have been reduced by 88%, 92%, 88%, and 97%, respectively, and nadir O2 saturation improved to 91%., Conclusions: The absence of complications and considerable reduction of apnea and hypopnea events in this case study help demonstrate the potential safety and efficacy of the bilateral hypoglossal nerve stimulator., Level of Evidence: 4., (© 2019 The Authors. Laryngoscope Investigative Otolaryngology published by Wiley Periodicals, Inc. on behalf of The Triological Society.)- Published
- 2019
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22. Variations in the APP gene promoter region and risk of Alzheimer disease.
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Guyant-Maréchal L, Rovelet-Lecrux A, Goumidi L, Cousin E, Hannequin D, Raux G, Penet C, Ricard S, Macé S, Amouyel P, Deleuze JF, Frebourg T, Brice A, Lambert JC, and Campion D
- Subjects
- Aged, Biomarkers, Tumor genetics, DNA Mutational Analysis methods, Female, France epidemiology, Genetic Predisposition to Disease epidemiology, Genetic Predisposition to Disease genetics, Heterozygote, Humans, Incidence, Male, Middle Aged, Promoter Regions, Genetic, Protease Nexins, Risk Factors, Alzheimer Disease epidemiology, Alzheimer Disease genetics, Amyloid beta-Protein Precursor genetics, Genetic Testing methods, Genetic Variation genetics, Polymorphism, Single Nucleotide genetics, Receptors, Cell Surface genetics, Risk Assessment methods
- Abstract
We genotyped five polymorphisms, including two polymorphisms with known effects on transcriptional activity, in a large cohort of 427 Alzheimer disease (AD) cases and 472 control subjects. An association between rs463946 (-3102 G/C) and AD was found and was confirmed in a replication sample of a similar size. By contrast, analysis of three recently described rare mutations influencing APP transcription did not confirm their association with AD risk.
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- 2007
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23. A simple method for the routine detection of somatic quantitative genetic alterations in colorectal cancer.
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Killian A, Di Fiore F, Le Pessot F, Blanchard F, Lamy A, Raux G, Flaman JM, Paillot B, Michel P, Sabourin JC, Tuech JJ, Michot F, Kerckaert JP, Sesboüé R, and Frebourg T
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- Colorectal Neoplasms pathology, Female, Fluorescence, Genes, DCC genetics, Humans, Male, Neoplasm Staging, Oligonucleotide Array Sequence Analysis, Predictive Value of Tests, Prognosis, Protein Kinases genetics, Proto-Oncogene Proteins c-myc genetics, Reproducibility of Results, Tumor Suppressor Protein p53 genetics, Colorectal Neoplasms genetics, Gene Amplification, Gene Deletion, Gene Expression Profiling methods, Gene Expression Regulation, Neoplastic, Polymerase Chain Reaction methods
- Abstract
Background & Aims: Several quantitative genetic alterations have been suggested to have in colorectal cancer (CRC) either a prognostic or a therapeutic predictive value. Routine detection of these alterations is limited by the absence of simple methods., Methods: The somatic quantitative multiplex polymerase chain reaction of short fluorescent fragments (QMPSF) is based on the simultaneous amplification under quantitative conditions of several dye-labeled targets both from tumor and nonmalignant tissues. For each patient, the resulting QMPSF fluorescent profiles are superimposed, and quantitative changes are simply detected by an increase or decrease of the corresponding fluorescent peaks. Two assays were developed and applied to 57 CRC: a "bar code" exploring several loci with known prognostic value and a "kinogram" studying the copy number change of kinase genes, against which inhibitors have been developed., Results: The bar code revealed that the most frequent alterations were the gain of AURKA/20q13 (53%) and MYC/8q24 (39%) and heterozygous deletion of DCC/18q21.3 (39%) and TP53/17p13 (23%). The kinogram detected a gene copy number increase for AURKA, PTK2, MET, and EGFR in 53%, 37%, 33%, and 28% of the tumors, respectively. QMPSF results were validated by comparative genomic hybridization and multiplex real-time polymerase chain reaction on genomic DNA., Conclusions: The somatic QMPSF is a simple method able to detect simultaneously on a routine basis several quantitative changes in tumors. Its flexibility will allow the integration of clinically relevant genes. This high throughput method should be a valuable complementary tool of fluorescent in situ hybridization and comparative genomic hybridization.
- Published
- 2007
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24. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
- Author
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Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Brévière GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gérard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, and Campion D
- Subjects
- Adolescent, Adult, Alleles, Catechol O-Methyltransferase genetics, DiGeorge Syndrome genetics, Epilepsy blood, Epilepsy enzymology, Epilepsy genetics, Female, Genetic Predisposition to Disease, Humans, Intellectual Disability blood, Intellectual Disability enzymology, Intellectual Disability genetics, Male, Methionine genetics, Middle Aged, Phenotype, Proline genetics, Psychotic Disorders blood, Psychotic Disorders enzymology, Psychotic Disorders genetics, Risk Factors, Chromosome Deletion, Chromosomes, Human, Pair 22 genetics, DiGeorge Syndrome psychology, Proline blood, Proline Oxidase genetics
- Abstract
Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk for psychosis and mental retardation. Recently, it has been shown in a hyperprolinemic mouse model that an interaction between two genes localized in the hemideleted region, proline dehydrogenase (PRODH) and catechol-o-methyl-transferase (COMT), could be involved in this phenotype. Here, we further characterize in eight children the molecular basis of type I hyperprolinemia (HPI), a recessive disorder resulting from reduced activity of proline dehydrogenase (POX). We show that these patients present with mental retardation, epilepsy and, in some cases, psychiatric features. We next report that, among 92 adult or adolescent VCFS subjects, a subset of patients with severe hyperprolinemia has a phenotype distinguishable from that of other VCFS patients and reminiscent of HPI. Forward stepwise multiple regression analysis selected hyperprolinemia, psychosis and COMT genotype as independent variables influencing IQ in the whole VCFS sample. An inverse correlation between plasma proline level and IQ was found. In addition, as predicted from the mouse model, hyperprolinemic VCFS subjects bearing the Met-COMT low activity allele are at risk for psychosis (OR = 2.8, 95% CI = 1.04-7.4). Finally, from the extensive analysis of the PRODH gene coding sequence variations, it is predicted that POX residual activity in the 0-30% range results into HPI, whereas residual activity in the 30-50% range is associated either with normal plasma proline levels or with mild-to-moderate hyperprolinemia.
- Published
- 2007
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25. Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
- Author
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Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V, Rivier F, Mathieu M, Raux G, Jonveaux P, and Philippe C
- Subjects
- Child, Preschool, Exons genetics, Female, Humans, Mutation, Methyl-CpG-Binding Protein 2 genetics, Rett Syndrome genetics
- Abstract
The MECP2 gene is responsible for 80-85% of typical cases of Rett syndrome with deleterious mutations affecting exons 3 and 4. Recently, an alternate transcript including exon 1 was discovered with a new protein isoform (MeCP2_e1) much more abundant in brain. We screened exon 1 of MECP2 for mutations and for large rearrangements in a panel of 212 typical cases of Rett syndrome and one family case with atypical Rett syndrome. We identified two deleterious mutations (c.48_55dup and c.62+2_62+3del) and four large rearrangements encompassing exon 1 of MECP2. We also identified the c.16_21dup alteration formerly reported as c.3_4insGCCGCC and give additional support to classify this sequence variation as polymorphic. In our large panel of typical Rett, mutations affecting exon 1 of MECP2 represent 1% of the deleterious alleles. This study confirms that mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
- Published
- 2006
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26. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
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Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, and Giraud S
- Subjects
- Age Factors, Bone Morphogenetic Protein Receptors, Type I genetics, Bone Morphogenetic Protein Receptors, Type II genetics, DNA Mutational Analysis, Endoglin, France epidemiology, Genetic Linkage, Genetic Testing, Germ-Line Mutation, Humans, Polymorphism, Genetic, Smad Proteins genetics, Telangiectasia, Hereditary Hemorrhagic diagnosis, Telangiectasia, Hereditary Hemorrhagic epidemiology, Activin Receptors, Type II genetics, Antigens, CD genetics, Mutation, Receptors, Cell Surface genetics, Telangiectasia, Hereditary Hemorrhagic genetics
- Abstract
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease characterized by arteriovenous malformations and resulting from mutations in two major genes: ENG and ACVRL1. The aim of the present study was to estimate the prevalence of the mutations of ENG and ACVRL1 in HHT, based on the largest series of patients reported so far, recruited through a national network. We previously reported the first mutation screening of both genes, in French HHT patients, using heteroduplex analysis. This previous study, bringing 60 novel mutations, provided a significant improvement to the knowledge of molecular pathology in HHT. However, 32% (n=48) of the patients with a confirmed clinical diagnosis remained without mutation. In these patients, we performed an extensive molecular analysis that included the sequencing of the whole coding sequence, the search for large rearrangements, and screening of the potential 5' regulatory regions. Additionally, due to the lack of large pedigrees suitable for linkage analysis, and since SMAD4 germline mutations have been reported in families with combined HHT and juvenile polyposis, we screened this gene and five other genes involved in the TGF-beta/BMP pathway in the patients without mutation of ENG or ACVRL1. Only a novel SMAD1 non-conservative substitution was found in one patient, changing a poorly conserved methionine to an isoleucin. Twenty-three mutations were found in ACVRL1 and 8 in ENG (including a duplication of exons 4 to 8 and deletions of exons 1 to 3 and 9 to 14). Our results, combined with our previous data, increase the mutation rate to 88% (n=119/136) in French patients with a confirmed clinical diagnosis. Our results also emphasize the higher prevalence of large insertions/deletions in ENG and the predominance of ACVRL1 over ENG mutations.
- Published
- 2006
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27. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
- Author
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Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, and Campion D
- Subjects
- Age of Onset, Alzheimer Disease epidemiology, Alzheimer Disease pathology, Amyloid beta-Peptides analysis, Case-Control Studies, Cerebral Amyloid Angiopathy epidemiology, Cerebral Amyloid Angiopathy pathology, Female, Genes, Dominant, Humans, Male, Microsatellite Repeats, Polymerase Chain Reaction methods, Alzheimer Disease genetics, Amyloid beta-Peptides genetics, Brain pathology, Cerebral Amyloid Angiopathy genetics, Gene Duplication
- Abstract
We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides. Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA.
- Published
- 2006
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28. Acd, a peptidoglycan hydrolase of Clostridium difficile with N-acetylglucosaminidase activity.
- Author
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Dhalluin A, Bourgeois I, Pestel-Caron M, Camiade E, Raux G, Courtin P, Chapot-Chartier MP, and Pons JL
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- Acetylglucosaminidase chemistry, Acetylglucosaminidase genetics, Bacterial Proteins biosynthesis, Bacterial Proteins isolation & purification, Bacteriolysis, Clostridioides difficile genetics, Clostridioides difficile physiology, Genome, Bacterial, Hydrolases chemistry, Molecular Sequence Data, Peptidoglycan metabolism, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Acetylglucosaminidase metabolism, Bacterial Proteins genetics, Clostridioides difficile enzymology, Hydrolases metabolism, N-Acetylmuramoyl-L-alanine Amidase metabolism
- Abstract
A gene encoding a putative peptidoglycan hydrolase was identified by sequence similarity searching in the Clostridium difficile 630 genome sequence, and the corresponding protein, named Acd (autolysin of C. difficile) was expressed in Escherichia coli. The deduced amino acid sequence of Acd shows a modular structure with two main domains: an N-terminal domain exhibiting repeated sequences and a C-terminal catalytic domain. The C-terminal domain exhibits sequence similarity with the glucosaminidase domains of Staphylococcus aureus Atl and Bacillus subtilis LytD autolysins. Purified recombinant Acd produced in E. coli was confirmed to be a cell-wall hydrolase with lytic activity on the peptidoglycan of several Gram-positive bacteria, including C. difficile. The hydrolytic specificity of Acd was studied by RP-HPLC analysis and MALDI-TOF MS using B. subtilis cell-wall extracts. Muropeptides generated by Acd hydrolysis demonstrated that Acd hydrolyses peptidoglycan bonds between N-acetylglucosamine and N-acetylmuramic acid, confirming that Acd is an N-acetylglucosaminidase. The transcription of the acd gene increased during vegetative cellular growth of C. difficile 630. The sequence of the acd gene appears highly conserved in C. difficile strains. Regarding deduced amino acid sequences, the C-terminal domain with enzymic function appears to be the most conserved of the two main domains. Acd is the first known autolysin involved in peptidoglycan hydrolysis of C. difficile.
- Published
- 2005
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29. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
- Author
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Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, and Hannequin D
- Subjects
- Adult, Age of Onset, Aged, Chromosome Mapping methods, Dementia complications, Dementia pathology, Female, Genetic Linkage genetics, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Muscle Weakness etiology, Muscle Weakness genetics, Muscle Weakness pathology, Muscle, Skeletal pathology, Myosin Heavy Chains analysis, Myotonic Disorders complications, Myotonic Disorders pathology, Pedigree, Phenotype, RNA-Binding Proteins genetics, Sex Ratio, tau Proteins analysis, Chromosomes, Human, Pair 15 genetics, Dementia genetics, Myotonic Disorders genetics
- Abstract
The majority of proximal myotonic myopathy syndromes reported so far have been related to the myotonic dystrophy (DM) type 2 (DM2) mutation, an expanded (CCTG)n repeat in the ZNF9 gene. Here, we describe the phenotype and the histological features in muscle and brain of the first large pedigree with a non-myotonic dystrophy type 1 (DM1) non-DM2 multisystem myotonic disorder associated with severe frontotemporal dementia. Thirty individuals from three generations underwent detailed neurological, neuropsychological, electrophysiological, brain imaging and molecular analyses. Ten of them had proximal muscle weakness at onset, clinical/electrical myotonia and DM-type cataracts. The mean age at onset was 46.7 +/- 12.6 years (range: 32-69). Dementia was observed later in the course of the disease. On muscle biopsies, rare nuclear clumps, rimmed vacuoles and small angulated type 1 and type 2 fibres were seen early in the disease. They were replaced by fibrous adipose tissue at later stages. Immunohistochemical analysis of myosin heavy chain isoforms showed no selective fibre type atrophy-both type 1 and type 2 fibres being affected. Cortical atrophy without white matter lesions was seen on brain MRI. A brain single photon emission computed tomography (SPECT) study revealed marked frontotemporal hypoperfusion. Post-mortem examination of the brains of two patients showing prominent frontotemporal spongiosis, neuronal loss and rare neuronal and glial tau inclusions suggested frontotemporal dementia. Western blot analyses of the tau protein showed a triplet of isoforms (60, 64 and 69 kDa) in neocortical areas, and a doublet (64 and 69 kDa) in subcortical areas that distinguish our myotonic disorder from other's myotonic dystrophies. Molecular analyses failed to detect a repeat expansion in the DMPK and ZNF9 genes excluding both DM1 and DM2, whereas a genome-wide linkage analysis strongly suggested a linkage to chromosome 15q21-24. This previously unreported multisystem myotonic disorder including findings resembling DM1, DM2 and frontotemporal dementia provides further evidence of the clinical and genetic heterogeneity of the myotonic dystrophies. We propose to designate this disease myotonic dystrophy type 3, DM3.
- Published
- 2004
- Full Text
- View/download PDF
30. Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method.
- Author
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Tournier I, Raux G, Di Fiore F, Maréchal I, Leclerc C, Martin C, Wang Q, Buisine MP, Stoppa-Lyonnet D, Olschwang S, Frébourg T, and Tosi M
- Subjects
- Adaptor Proteins, Signal Transducing, Carrier Proteins, Colorectal Neoplasms, Hereditary Nonpolyposis metabolism, Exons, Gene Expression, Humans, Molecular Sequence Data, MutL Protein Homolog 1, Mutation, Neoplasm Proteins metabolism, Nuclear Proteins, Nucleic Acid Denaturation, RNA Stability, RNA, Messenger metabolism, Alleles, Chromatography, High Pressure Liquid methods, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, Neoplasm Proteins genetics, Polymorphism, Single Nucleotide, Reverse Transcriptase Polymerase Chain Reaction
- Abstract
Quantitative measures of allele-specific gene expression allow the indirect detection of mutations or sequence variants in regulatory elements or in other non-coding regions that may result in significant physiological or pathological changes of gene expression and may contribute to Mendelian or multifactorial disorders. We have devised a simple method, based on RT-PCR and single nucleotide primer extension (SNuPE) with unlabelled dideoxynucleotides, followed by DHPLC (denaturing high performance liquid chromatography). We established optimal conditions for separation of the extended products corresponding to the alleles of the c.655A>G (p.Ile219Val) SNP, which is the most frequent exonic polymorphism of MLH1. We then genotyped 99 unrelated control subjects and measured the allele-specific MLH1 expression in the 40 heterozygous controls found in this group. This method allowed us to define a narrow range of normal biallelic expression of MLH1, each allele contributing between 44.7% and 55.3% of the total expression. We then measured the allele-specific expression in hereditary nonpolyposis colorectal cancer (HNPCC) patients with MLH1 mRNAs bearing different stop-codon or frame-shift mutations, or in-frame deletions, in order to detect the effects of nonsense-mediated mRNA decay (NMD). Defects that induce mRNA instability were identified unambiguously and the data were consistent with current models of NMD. This study provides a sensitive tool to identify indirectly MLH1 defects that may escape detection in genomic DNA screenings but result in a quantitative change at the mRNA level., (Copyright 2004 Wiley-Liss, Inc.)
- Published
- 2004
- Full Text
- View/download PDF
31. Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.
- Author
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Maréchal L, Raux G, Dumanchin C, Lefebvre G, Deslandre E, Girard C, Campion D, Parain D, Frebourg T, and Hannequin D
- Subjects
- Adolescent, Adult, Aged, Child, Child, Preschool, DNA Mutational Analysis, Exons, Family Health, Female, Humans, Male, Middle Aged, Pedigree, Phenotype, Sarcoglycans, Syndrome, Codon, Nonsense, Cytoskeletal Proteins genetics, Dystonic Disorders genetics, Membrane Glycoproteins genetics, Myoclonus genetics
- Abstract
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS is linked to chromosome 7q21 and mutations within epsilon-sarcoglycan (SGCE) gene have been recently described. We report a MDS family with a severe and heterogeneous phenotype, including myoclonus with important functional impact and several psychiatric features, characterized by obsessive-compulsive disorder, depression, and anxiety. This phenotype was shown to be associated with a novel truncating mutation located within exon 4 of SGCE., (Copyright 2003 Wiley-Liss, Inc.)
- Published
- 2003
- Full Text
- View/download PDF
32. Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene.
- Author
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Bougeard G, Brugières L, Chompret A, Gesta P, Charbonnier F, Valent A, Martin C, Raux G, Feunteun J, Bressac-de Paillerets B, and Frébourg T
- Subjects
- DNA Primers, Female, Genetic Predisposition to Disease, Humans, Male, Pedigree, Sarcoma genetics, Sequence Analysis, DNA, Gene Deletion, Genes, p53, Li-Fraumeni Syndrome genetics
- Abstract
The absence of detectable germline TP53 mutations in a fraction of families with Li-Fraumeni syndrome (LFS) has suggested the involvement of other genes, but this hypothesis remains controversial. The density of Alu repeats within the TP53 gene led us to search genomic rearrangements of TP53 in families without detectable TP53 mutation. To this aim, we adapted the quantitative multiplex PCR of short fluorescent fragments (QMPSF) method to the analysis of the 11 exons of TP53. We analysed 98 families, either fulfilling (six families) or partially meeting (92 families) the criteria for LFS, and in which classical methods had failed to reveal TP53 alterations. We identified, in a large family fulfilling the criteria for LFS, a complete heterozygous deletion of TP53. Additional QMPSF analyses indicated that this deletion, which partially removed the centromeric FLJ10385 locus, covered approximately 45 kb. This deletion was shown to result from a complex rearrangement involving two distinct Alu-mediated recombinations. We conclude that TP53 germline rearrangements occur as rare events, but must be considered in LFS families without detectable point TP53 mutation.
- Published
- 2003
- Full Text
- View/download PDF
33. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
- Author
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Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, and Frébourg T
- Subjects
- Amino Acid Substitution, DiGeorge Syndrome genetics, DiGeorge Syndrome metabolism, Female, Humans, Male, Mutation, Missense, Pedigree, Proline genetics, Schizophrenia metabolism, Sequence Deletion, Proline blood, Proline Oxidase genetics, Schizophrenia genetics
- Abstract
The increased prevalence of schizophrenia among patients with the 22q11 interstitial deletion associated with DiGeorge syndrome has suggested the existence of a susceptibility gene for schizophrenia within the DiGeorge syndrome chromosomal region (DGCR) on 22q11. Screening for genomic rearrangements of 23 genes within or at the boundaries of the DGCR in 63 unrelated schizophrenic patients and 68 unaffected controls, using quantitative multiplex PCR of short fluorescent fragments (QMPSF), led us to identify, in a family including two schizophrenic subjects, a heterozygous deletion of the entire PRODH gene encoding proline dehydrogenase. This deletion was associated with hyperprolinemia in the schizophrenic patients. In addition, two heterozygous PRODH missense mutations (L441P and L289M), detected in 3 of 63 schizophrenic patients but in none among 68 controls, were also associated with increased plasma proline levels. Segregation analysis within the two families harboring respectively the PRODH deletion and the L441P mutation showed that the presence of a second PRODH nucleotide variation resulted in higher levels of prolinemia. In two unrelated patients suffering from severe type I hyperprolinemia with neurological manifestations, we identified a homozygous L441P PRODH mutation, associated with a heterozygous R453C substitution in one patient. These observations demonstrate that type I hyperprolinemia is present in a subset of schizophrenic patients, and suggest that the genetic determinism of type I hyperprolinemia is complex, the severity of hyperprolinemia depending on the nature and number of hits affecting the PRODH locus.
- Published
- 2002
- Full Text
- View/download PDF
34. IGHV3-associated restriction fragment length polymorphisms confer susceptibility to bullous pemphigoid.
- Author
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Raux G, Gilbert D, Joly P, Martel P, Roujeau JC, Prost C, Lefranc MP, and Tron F
- Subjects
- Deoxyribonucleases, Type II Site-Specific, Genes, Immunoglobulin, Genetic Predisposition to Disease genetics, Humans, Pemphigoid, Bullous immunology, Immunoglobulin Constant Regions genetics, Immunoglobulin Variable Region genetics, Immunoglobulin gamma-Chains genetics, Pemphigoid, Bullous genetics, Polymorphism, Restriction Fragment Length
- Abstract
Objective: To determine whether the immunoglobulin heavy chain genes contribute to the occurrence of bullous pemphigoid (BP), polymorphisms of both the immunoglobulin constant IGHC and variable IGHV groups were studied in 100 Caucasian BP patients and 143 ethnically matched healthy individuals., Methods: To analyze the restriction fragment length polymorphism (RFLP) of the IGHG constant locus, a genomic immunoglobulin gamma 3 probe which detects polymorphisms in the gamma constant genes was hybridized to BstEII- or BamHI/SacI-digested germline DNA, while IGHV3 subgroup polymorphism was analyzed by hybridizing a cloned VH3 probe to EcoRI-digested DNA., Results: No difference in the frequencies of the genotypes defined by the constant probe was observed between patients and controls. Analysis of the RFLP obtained with the VH3 probe showed that within the range of 4.5 and 1.5 kb, the observed band pattern was composed of 8 monomorphic and 7 polymorphic bands. Among the latter, 4 allowed to define 10 different restriction patterns. One pattern was shown to be significantly less frequent in patients than in controls., Conclusion: IGHV3 polymorphism might be a factor conferring susceptibility to BP., (Copyright 2001 S. Karger AG, Basel)
- Published
- 2001
- Full Text
- View/download PDF
35. Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
- Author
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Raux G, Gantier R, Thomas-Anterion C, Boulliat J, Verpillat P, Hannequin D, Brice A, Frebourg T, and Campion D
- Subjects
- Adult, Female, Frontal Lobe, Humans, Male, Middle Aged, Mutation genetics, Pedigree, Presenilin-1, Temporal Lobe, Dementia genetics, Membrane Proteins genetics
- Abstract
The authors report a presenilin 1 (PSEN1) mutation (L113P) in a family with six cases of dementia. The patients had personality changes and behavioral disorders, whereas spatial orientation and praxis were preserved late in the course of the illness. Neuroimaging features were consistent with the diagnosis of frontotemporal dementia. The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
- Published
- 2000
- Full Text
- View/download PDF
36. APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population.
- Author
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Zurutuza L, Verpillat P, Raux G, Hannequin D, Puel M, Belliard S, Michon A, Pothin Y, Camuzat A, Penet C, Martin C, Brice A, Campion D, Clerget-Darpoux F, and Frebourg T
- Subjects
- Adult, Aged, Aged, 80 and over, Alzheimer Disease diagnosis, Alzheimer Disease epidemiology, Female, France epidemiology, Humans, Linkage Disequilibrium genetics, Male, Middle Aged, Penetrance, Risk Factors, Alzheimer Disease genetics, Apolipoproteins E genetics, Polymorphism, Genetic genetics, Promoter Regions, Genetic genetics
- Abstract
The apolipoprotein E (APOE, gene; apoE, protein) isoforms are associated with differential risk of Alzheimer's disease (AD). An additional involvement of APOE promoter polymorphisms in AD risk has recently been suggested by several studies. Indeed, three polymorphisms of the APOE regulatory region (-219 G/T, -427 C/T and -491 A/T) have been found associated with AD even after adjustment on the apoE status. We analysed these three promoter region polymorphisms in a large French case-control study (388 AD cases and 386 controls). We found that the -427 T and -491 A alleles were associated with an increased risk of developing AD, but not the -219 G/T alleles. However, a strong linkage disequilibrium was observed between the alleles of these promoter region polymorphisms and the APOE coding region alleles. We therefore retested association after adjustment on apoE status and found that the sole association which remained significant was the association with the -427 T allele. The alpha level was equal to 0.03 (0.09 after Bonferroni correction for multiple comparisons). Analysis of promoter haplotypes also yielded non-significant results. Thus our study does not reinforce the hypothesis of an independent involvement of the APOE promoter region polymorphisms in AD risk.
- Published
- 2000
- Full Text
- View/download PDF
37. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments.
- Author
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Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, Saurin JC, Puisieux A, Olschwang S, and Frebourg T
- Subjects
- Adaptor Proteins, Signal Transducing, Base Pair Mismatch genetics, Carrier Proteins, Exons, Family Health, Humans, Introns, Models, Genetic, MutL Protein Homolog 1, MutS Homolog 2 Protein, Nuclear Proteins, Polymerase Chain Reaction methods, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, DNA Repair genetics, DNA-Binding Proteins, Gene Deletion, Gene Duplication, Neoplasm Proteins genetics, Proto-Oncogene Proteins genetics
- Abstract
Large genomic deletions within the mismatch repair MLH1 and MSH2 genes have been identified in families with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, and their detection represents a technical problem. To facilitate their detection, we developed a simple semiquantitative procedure based on the multiplex PCR of short fluorescent fragments. This method allowed us to confirm in HNPCC families three known deletions of MLH1 or MSH2 and to detect in 19 HNPCC families, in which analysis of mismatch repair genes using classical methods had revealed no alteration, a deletion of exon 5 and a duplication of MSH2 involving exons 9 and 10. The presence of such duplications, the frequency of which is probably underestimated, must be considered in HNPCC families in which conventional screening methods have failed to detect mutations.
- Published
- 2000
38. Association of KM genotype with bullous pemphigoid.
- Author
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Raux G, Gilbert D, Joly P, Daveau M, Martel P, Christ M, and Tron F
- Subjects
- Autoantigens immunology, Autoimmunity genetics, Base Sequence, Case-Control Studies, Collagen immunology, DNA Primers genetics, Dystonin, Genetic Markers, Genotype, Heterozygote, Homozygote, Humans, Collagen Type XVII, Carrier Proteins, Cytoskeletal Proteins, Immunoglobulin Allotypes genetics, Nerve Tissue Proteins, Non-Fibrillar Collagens, Pemphigoid, Bullous genetics, Pemphigoid, Bullous immunology
- Abstract
Association of kappa light chain immunoglobulin allotypes with bullous pemphigoid was examined in 101 Caucasian patients. Km alleles were determined by polymerase chain reaction amplification followed by restriction enzyme digestion. The frequency of Km(3)/Km(1,2)kappa light-chain genotype was found to be significantly associated with the disease, while that of the Km(3)homozygous genotype was significantly higher in patients with both anti-BPAG1 and anti-BPAG2 autoantibodies., (Copyright 2000 Academic Press.)
- Published
- 2000
- Full Text
- View/download PDF
39. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
- Author
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Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, and Frebourg T
- Subjects
- Adult, Aged, Alzheimer Disease diagnosis, Amino Acid Substitution, Amyloid beta-Protein Precursor genetics, Codon genetics, DNA Mutational Analysis, Exons genetics, Female, France epidemiology, Gene Frequency, Genotype, Humans, Male, Membrane Proteins genetics, Middle Aged, Pedigree, Penetrance, Presenilin-1, Presenilin-2, Prevalence, Age of Onset, Alzheimer Disease epidemiology, Alzheimer Disease genetics, Genes, Dominant, Genetic Heterogeneity, Mutation genetics
- Abstract
To determine the prevalence of early-onset Alzheimer disease (EOAD) and of autosomal dominant forms of EOAD (ADEOAD), we performed a population-based study in the city of Rouen (426,710 residents). EOAD was defined as onset of disease at age <61 years, and ADEOAD was defined as the occurrence of at least three EOAD cases in three generations. Using these stringent criteria, we calculated that the EOAD and ADEOAD prevalences per 100,000 persons at risk were 41.2 and 5.3, respectively. We then performed a mutational analysis of the genes for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) in 34 families with ADEOAD ascertained in France. In 19 (56%) of these families, we identified 16 distinct PSEN1 missense mutations, including 4 (Thr147Ile, Trp165Cys, Leu173Trp, and Ser390Ile) not reported elsewhere. APP mutations, including a novel mutation located at codon 715, were identified in 5 (15%) of the families. In the 10 remaining ADEOAD families and in 9 additional autosomal dominant Alzheimer disease families that did not fulfill the strict criteria for ADEOAD, no PSEN1, PSEN2, or APP mutation was identified. These results show that (1) PSEN1 and APP mutations account for 71% of ADEOAD families and (2) nonpenetrance at age <61 years is probably infrequent for PSEN1 or APP mutations.
- Published
- 1999
- Full Text
- View/download PDF
40. Comparison of structural characteristics of antisubnucleosome and anti-DNA monoclonal antibodies derived from lupus mice.
- Author
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Koutouzov S, Jovelin F, Brard F, Raux G, Tron F, and Gilbert D
- Subjects
- Amino Acids analysis, Animals, DNA immunology, Disease Models, Animal, Immunoglobulin Variable Region chemistry, Mice, Mice, Inbred MRL lpr, Molecular Sequence Data, RNA, Messenger chemistry, Antibodies, Antinuclear chemistry, Antibodies, Monoclonal chemistry, Lupus Erythematosus, Systemic immunology, Nucleosomes immunology
- Published
- 1997
- Full Text
- View/download PDF
41. Immunoglobin variable-region mRNA direct sequencing: a method to bypass aberrant myeloma light-chain transcripts.
- Author
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Jovelin F, Brard F, Raux G, Tron F, and Gilbert D
- Subjects
- Base Sequence, Humans, Immunoglobulin kappa-Chains genetics, Molecular Sequence Data, Immunoglobulin Variable Region genetics, Myeloma Proteins genetics, RNA, Messenger chemistry
- Published
- 1996
- Full Text
- View/download PDF
42. [Resident medical student 25].
- Author
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Buisine A, Raux G, and Savoie A
- Subjects
- Education, Medical history, France, History, 20th Century
- Published
- 1971
43. [Polyepiphyseal dystrophy with nanism].
- Author
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BUISINE A and RAUX G
- Subjects
- Humans, Drinking Behavior, Dwarfism, Epiphyses, Feeding and Eating Disorders
- Published
- 1952
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