Search

Your search keyword '"Mornet, E."' showing total 209 results
Start Over Author "Mornet, E." Language english
209 results on '"Mornet, E."'

30. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene

Author

Spentchian, M, Merrien, Y, Herasse, M, Dobbie, Z, Glaser, D, Holder, SE, Ivarsson, SA, Kostiner, D, Mansour, S, Norman, A, Roth, J, Stipoljev, Feodora, Taillemite, JL, van der Smagt, JJ, Serre, JL, Simon-Bouy, B, Taillandier, A, and Mornet, E.

Subjects
ALPL, TNSALP, hypophosphatasia, alkaline phosphatase
Abstract

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported: M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.

Published
2003
Full Text
View/download PDF

31. A molecular approach of dominance in hypophosphatasia

Author

Lia-Baldini, Anne-Sophie, Muller, F., Taillandier, A., GIBRAT, J.F., MOUCHARD, M., ROBIN, B., Simon-Bouy, B., SERRE, J.L., AYLSWORTH, S., Baumann, C., BIETH, E., DELANOTE, S., Freisinger, P., Hu, J.C., Nunes, M., SIMMER, J.P., Mornet, E., Unité de Génétique Moléculaire Animale (UGMA), Université de Limoges (UNILIM)-Institut National de la Recherche Agronomique (INRA), Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Archive Ouverte

Subjects
[SDV] Life Sciences [q-bio], DOMINANCE, [SDV]Life Sciences [q-bio], GENETIC ABNORMALITIES
Abstract

absent

Published
2001

32. Structural evidences for a functional rôle of human tissue non-specific alkaline phosphatase in bone mineralization

Author

Mornet, E., STURA, E., Lia-Baldini, Anne-Sophie, STIGBRAND, T., Menez, A., LE DU, M.H., Unité de Génétique Moléculaire Animale (UGMA), Université de Limoges (UNILIM)-Institut National de la Recherche Agronomique (INRA), Unité de Génétique Moléculaire Animale (UMR GMA), and Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM)

Subjects
MEN, BONE, [SDV]Life Sciences [q-bio], tissu osseux, homme
Abstract

absent

Published
2001

33. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency

Author

Mornet, E, Crété, P, Kuttenn, F, Raux-Demay, M C, Boué, J, White, P C, and Boué, A

Subjects
Adrenal Hyperplasia, Congenital, Base Sequence, Molecular Sequence Data, DNA, Polymerase Chain Reaction, Blotting, Southern, Mutation, Humans, Steroid 21-Hydroxylase, Chromosome Deletion, Oligonucleotide Probes, Alleles, Pseudogenes, Research Article
Abstract

To characterize mutations in the CYP21B gene that are responsible for congenital adrenal hyperplasia (CAH), DNA samples from 91 French patients have been studied by allelic-specific oligonucleotide hybridization and Southern blot analysis. Seven sites mostly found in the CYP21A pseudogene and deletions of the functional CYP21B gene have been screened. Gene conversions involving small DNA segments accounted for 57% of the tested mutations and probably cause 74% of the mutations responsible for the disease. Complete deletion of the CYP21B gene accounted for 18% of the CAH mutations in the whole sample and for 21% in the classical form of the disease. Three mutations were found associated with specific clinical forms of the disease: a G-C substitution in the seventh exon was associated with the late-onset form of the disease, and both an 8-bp depletion in the third exon and complete deletion of CYP21B were associated with the salt-wasting form.

Published
1991

34. Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

Author

Serre, J.L. Simon-Bouy, B. Mornet, E. Jaume-Roig, B. Balassopoulou, A. Schwartz, M. Taillandier, A. Boué, J. Boué, A.

Abstract

The prenatal diagnosis of cystic fibrosis is now routinely performed by using two probes tightly linked to the CF locus (XV2C and KM19). These probes have been shown to exhibit a strong linkage disequilibrium with the CF locus. Our data (103 families) have been pooled with other French data (237 families). They are consistent with the hypothesis of a unique ancestral mutation initially associated with a B (D1E2) restriction fragment length polymorphism (RFLP) haplotype, subsequently reassociated by cross-over with A, C or D haplotypes. Assuming such an hypothesis, the mutation is supposed to be 3000-6000 years old, depending on generation length and the true recombination ratio between the KM19 and CF loci. Up-to-date Spanish, Danish and Greek data are reported together with other previously published population data in order to discuss the geographic origin and age of the mutation in Europe. The action of selection in terms of heterozygote advantage and distorsion of segregation is discussed. © 1990 Springer-Verlag.

Published
1990

38. Correlations of genotype and phenotype in hypophosphatasia.

Author

Zurutuza, L., Muller, F., Gibrat, J. F., Taillandier, A., Simon-Bouy, B., Serre, J. L., and Mornet, E.

Abstract

Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical expression. The disease is due to various mutations in the tissue-non-specific alkaline phosphatase (TNSALP) gene. We report here the use of clinical data, site-directed mutagenesis and computer-assisted modelling to propose a classi-fication of 32 TNSALP gene mutations found in 23 European patients, 17 affected with lethal hypophosphatasia and six with non-lethal hypophosphatasia. Transfection studies of the missense mutations found in non-lethal hypophosphatasia showed that six of them allowed significant residual in vitro enzymatic activity, suggesting that these mutations corresponded to moderate alleles. Each of the six patients with non-lethal hypophosphatasia carried at least one of these alleles. The three-dimensional model study showed that moderate mutations were not found in the active site, and that most of the severe missense mutations were localized in crucial domains such as the active site, the vicinity of the active site and homodimer interface. Some mutations appeared to be organized in clusters on the surface of the molecule that may represent possible candidates for regions interacting with the C-ter-minal end involved in glycosylphosphatidylinositol (GPI) attachment or with other dimers to form tetra-mers. Finally, our results show a good correlation between clinical forms of the disease, mutagenesis experiments and the three-dimensional structure study, and allowed us to clearly distinguish moderate alleles from severe alleles. They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly to variable residual enzymatic activities allowed by missense mutations found in the human TNSALP gene. [ABSTRACT FROM AUTHOR]

Published
1999
Full Text
View/download PDF

39. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Author

Mornet, E, Taillandier, A, Peyramaure, S, Kaper, F, Muller, F, Brenner, R, Bussière, P, Freisinger, P, Godard, J, Le Merrer, M, Oury, J F, Plauchu, H, Puddu, R, Rival, J M, Superti-Furga, A, Touraine, R L, Serre, J L, and Simon-Bouy, B

Subjects
*PHOSPHATASES, *HYPOPHOSPHATASIA, *GENETICS
Abstract

Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 13 European families affected by perinatal, infantile or childhood hypophosphatasia. Eighteen distinct mutations were found, only three of which had been reported previously in North American and Japanese populations. Most of the 15 new mutations were missense mutations, but we also found two mutations affecting donor splice sites and a nonsense mutation. A missense mutation in the last codon of the putative signal peptide probably affects the final maturation of the protein. Despite extensive sequencing of the gene and its promotor region, only one mutation was identified in two cases, one of which was compatible with a possible dominant effect of certain mutations and the putative role of polymorphisms of the TNSALP gene. In 12 of the 13 tested families, genetic diagnosis was possible by characterisation of the mutations or by use of polymorphisms as genetic markers. Hypophosphatasia diagnosis was assigned in two families where clinical, laboratory and radiographic data were unclear and prenatal diagnosis was performed in one case. The results also show that severe hypophosphatasia is due to a very large spectrum of mutations in European populations with no prevalent mutation and that genetic diagnosis of the disease must be performed by extensive analysis of the gene. [ABSTRACT FROM AUTHOR]

Published
1998
Full Text
View/download PDF

41. Polymorphisms of human albumin gene after DNA restriction by Hae III endonuclease.

Author

Souza, S., Frain, M., Mornet, E., Sala-Trépat, J., and Lucotte, G.

Abstract

Hybridization of albumin clones cDNA with human DNAs digested by several restriction endonucleases reveals two Hae III polymorphisms. The first polymorphism, H, is of low frequency ( f=0.05); the second, which is validated by family analysis, occurs frequently ( f=0.21) and is an intronic polymorphism, probably of substitution-base type. [ABSTRACT FROM AUTHOR]

Published
1984
Full Text
View/download PDF

45. Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

Author

Tejada, M I, Mornet, E, Tizzano, E, Molina, M, Baiget, M, and Boue, A

Abstract

A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases was the normal X. At the age of 57, she is mentally normal. Her external appearance was typical of Turner's syndrome. This report shows that molecular studies in conjunction with cytogenetic analysis can help in the clinical diagnosis of a rare case and can show the uniqueness of a case such as the one here described. [ABSTRACT FROM PUBLISHER]

Published
1994

Catalog

Books, media, physical & digital resources
See catalog results