References of "Vassart, G"
     in
Bookmark and Share    
Full Text
Peer Reviewed
See detailMutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis
Livadariu, E.; Auriemma, R. S.; Rydlewski, C. et al

in European Journal of Endocrinology (2011)

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR ... [more ▼]

Objective: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CaSR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CaSR function. Patients and Methods: A 16 yr-old patient had mild hypercalcemia associated with low-normal urinary calcium excretion and normal-to-high parathyroid hormone (PTH) levels. Because of negative family history, familial hypocalciuric hypercalcemia (FHH) was originally excluded. The second patient was a 54 yr-old man with symptomatic hypocalcemia, hyperphosphatemia, low PTH, and mild hypercalciuria. Familial investigation revealed the same phenotype in the patient's sister. The coding region of the CaSR gene was sequenced in both probands and their available first-degree relatives. Results: The first patient had a novel heterozygous inactivating CASR mutation in exon 4, which predicted a p.A423K change; genetic analysis was negative in the parents. The second patient had a novel heterozygous activating CASR mutation in exon 6, which predicted a p.E556K change; the affected sister of the proband was also positive. Conclusions: We reported two novel heterozygous mutations of the CASR gene, an inactivating mutation in exon 4 and the first activating mutation reported to date in exon 6. These cases illustrate the importance of genetic testing of CASR gene to aid correct diagnosis and to assist in clinical management. [less ▲]

Detailed reference viewed: 30 (4 ULg)
Full Text
Peer Reviewed
See detailDeux nouvelles mutations dans le gène du récepteur du calcium (CASR) entraînant respectivement une hypo- et une hypercalcémie
Thonnard, Anne-Sophie ULg; Livadariu, Elena ULg; Rydlewski, C. et al

in Annales d'Endocrinologie (2010, September), 71(5), 367

Detailed reference viewed: 27 (5 ULg)
Full Text
See detailDeux nouvelles mutations dans le gène du récepteur du calcium (CASR) entraînant respectivement une hypo- et une hypercalcémie
Thonnard, Anne-Sophie ULg; Livadariu, E.; Rydlewski, C. et al

in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September)

Detailed reference viewed: 26 (3 ULg)
See detailTwo novel mutations of the calcium sensing receptor gene
Livaradiu, E.; Rydlewski, C.; Hamoir, Etienne ULg et al

in 18th Meeting of the Belgian Endocrine and Metabolic societies : Bruxelles, 25 octobre 2008 (2008, October)

Detailed reference viewed: 4 (0 ULg)
See detailTwo Novel Mutations of the Calcium Sensing Receptor gene
Livadariu, E.; Rydlewski, C.; Hamoir, Etienne ULg et al

in ENDO 2008: 90th Annual Meeting of the Endocrine Society - Abstract book (2008)

Detailed reference viewed: 15 (4 ULg)
See detailStruma Ovarii toxique : Etudes Génétiques
Valdes Socin, Hernan Gonzalo ULg; Parma, J.; Vassart, G. et al

in Annales d'Endocrinologie : XIXe Congrès de la Société Française d'Endocrinologie - Abstract book (2001)

Detailed reference viewed: 5 (0 ULg)
Full Text
Peer Reviewed
See detailSpecific repertoire of olfactory receptor genes in the male germ cells of several mammalian species
Vanderhaeghen, P.; Schurmans, Stéphane ULg; Vassart, G. et al

in Genomics (1997), 39

Olfactory receptors constitute the largest family among G protein-coupled receptors, with up to 1000 members expected. We have previously shown that genes belonging to this family were expressed in the ... [more ▼]

Olfactory receptors constitute the largest family among G protein-coupled receptors, with up to 1000 members expected. We have previously shown that genes belonging to this family were expressed in the male germ line from both dog and human. We have subsequently demonstrated the presence of one of the corresponding olfactory receptor proteins during dog spermatogenesis and in mature sperm cells. In this study, we investigated whether the unexpected pattern of expression of olfactory receptors in the male germ line was conserved in other mammalian species. Using reverse transcription-PCR with primers specific for the olfactory receptor gene family, about 20 olfactory receptor cDNA fragments were cloned from the testis of each mammalian species tested. As a whole, they displayed no sequence specificity compared to other olfactory receptors, but highly homologous, possibly orthologous, genes were amplified from different species. Finally, their pattern of expression, as determined by RNase protection assay, revealed that many but not all of these receptors were expressed predominantly in testis. The male germ line from each mammalian species tested ins thus characterized by a specific repertoire of olfactory receptors, which display a pattern of expression suggestive of their potential implication in the control of sperm maturation, migration, or fertilization [less ▲]

Detailed reference viewed: 32 (2 ULg)
Full Text
Peer Reviewed
See detailMolecular cloning and chromosomal mapping of olfactory receptor genes expressed in the male germ line: evidence for their wide distribution in the human genome
Vanderhaeghen, P.; Schurmans, Stéphane ULg; Vassart, G. et al

in Biochemical and Biophysical Research Communications (1997), 237

Olfactory receptor genes constitute the largest family of G protein-coupled receptors. We have previously shown that members of this family are expressed during spermatogenesis, and that the corresponding ... [more ▼]

Olfactory receptor genes constitute the largest family of G protein-coupled receptors. We have previously shown that members of this family are expressed during spermatogenesis, and that the corresponding proteins are displayed on mature sperm cells. In each mammalian species, a restricted subset of olfactory receptors is expressed in male germ cells and displays a pattern of expression suggestive of their potential implication in the control of sperm physiology. In addition to the cDNA fragments available previously, we now report the molecular cloning of two olfactory receptor cDNAs from a human testis library. Five olfactory receptor genes expressed in germ cells were localized in the human genome by radiation hybrid mapping. Three of the genes map to the short arm of chromosome 19 (19p13.1-19p31.3), one to chromosome 11 (11q22.1-22.3), and one to chromosome 17 (17q21-22). The former two localizations fall within clusters previously identified for members of the putative olfactory receptor gene family expressed in olfactory mucosa. Similarly, sequence analysis has revealed that these testicular genes share no distinctive structural features from the other, non-testicular, members of the family. The expression of a subset of olfactory receptor genes in the male germ line is therefore not correlated to their belonging to a specific structural subgroup, or to a specific gene cluster or chromosomal segment [less ▲]

Detailed reference viewed: 18 (5 ULg)
Full Text
See detailOlfactory Receptors
Parmentier, M.; Schurmans, Stéphane ULg; Libert, F. et al

in Peroutka, S. (Ed.) Handbook of Receptors and Channels: G Protein Coupled Receptors (1994)

Detailed reference viewed: 11 (3 ULg)
Full Text
Peer Reviewed
See detailGénétique moléculaire des récepteurs olfactifs
Parmentier, M.; Vanderhaeghen, P.; Schurmans, Stéphane ULg et al

in Medecine Sciences : M/S (1994), 10

Les gènes codant pour les récepteurs olfactifs ont été isolés à partir d'une banque d'ADNc de la muqueuse olfactive. Ils constituent une famille très étendue (plusieurs centaines de gènes) codant pour des ... [more ▼]

Les gènes codant pour les récepteurs olfactifs ont été isolés à partir d'une banque d'ADNc de la muqueuse olfactive. Ils constituent une famille très étendue (plusieurs centaines de gènes) codant pour des récepteurs à sept passages transmembranaires couplés, par l'intermédiaire de protéines G, à l'activation de l'adénylyl cyclase et de la phospholipase C. La grande diversité des récepteurs olfactifs réside surtout dans les domaines transmembranaires III, IV, V et VI, qui portent les sites de liaison des ligands, les molécules odorantes, et répond sans doute à la diversité des ligands [less ▲]

Detailed reference viewed: 28 (1 ULg)
Full Text
Peer Reviewed
See detailLes spermatozoïdes ont-ils du nez ?
Vanderhaeghen, P.; Schurmans, Stéphane ULg; Parmentier, M. et al

in Medecine Sciences : M/S (1994), 10

Detailed reference viewed: 28 (2 ULg)
Full Text
Peer Reviewed
See detailOlfactory receptors are displayed on dog mature sperm cells
Vanderhaeghen, P.; Schurmans, Stéphane ULg; Vassart, G. et al

in Journal of Cell Biology (1993), 123

Olfactory receptors constitute a huge family of structurally related G protein-coupled receptors, with up to a thousand members expected. We have shown previously that genes belonging to this family were ... [more ▼]

Olfactory receptors constitute a huge family of structurally related G protein-coupled receptors, with up to a thousand members expected. We have shown previously that genes belonging to this family were expressed in the male germ line from both dog and human. The functional significance of this unexpected site of expression was further investigated in the present study. We demonstrate that a few dog genes representative of various subfamilies of olfactory receptors are expressed essentially in testis, with little or no expression in olfactory mucosa. Other randomly selected members of the family show the expected site of expression, restricted to the olfactory system. Antibodies were generated against the deduced amino acid sequence of the most abundantly expressed olfactory receptor gene in dog testis. The purified serum was able to detect the gene product (DTMT receptor) in late round and elongated spermatids, as well as in the cytoplasmic droplet that characterizes the maturation of dog sperm cells, and on the tail midpiece of mature spermatozoa. Western blotting further confirmed the presence of a 40-kD immunoreactive protein in the membrane of mature sperm cells. Altogether , these results demonstrate that the main expression site of a subset of the large olfactory receptor gene family is not olfactory mucosa but testis. This expression correlates with the presence of the corresponding protein during sperm cell maturation, and on mature sperm cells. The pattern of expression is consistent with a role as sensor for unidentified chemicals possibly involved in the control of mammalian sperm maturation, migration, and/or fertilization [less ▲]

Detailed reference viewed: 101 (5 ULg)
Full Text
Peer Reviewed
See detailCloning and characterization of G protein-coupled receptors
Parmentier, M.; Libert, F.; Perret, J. et al

in Advances in Second Messenger and Phosphoprotein Research (1993), 28

Detailed reference viewed: 9 (2 ULg)
Full Text
Peer Reviewed
See detailThe OLFR1 gene encoding the HGMP07E putative olfactory receptor maps to the 17p12-17p13 region of the human genome and reveals a MspI restriction fragment lenght polymorphism
Schurmans, Stéphane ULg; Muscatelli, F.; Miot, F. et al

in CytoGenetics & Cell Genetics (1993), 63

Olfactory receptors are believed to be encoded by an extremely large subfamily of G protein-coupled receptors. A human gene (OLFR1) encoding a member of this family was cloned from a genomic library by ... [more ▼]

Olfactory receptors are believed to be encoded by an extremely large subfamily of G protein-coupled receptors. A human gene (OLFR1) encoding a member of this family was cloned from a genomic library by cross-hybridization with a gene fragment obtained by the polymerase chain reaction. The nucleotide sequence of a 3.4-kb EcoRI fragment was determined, and the protein sequence was deduced from the single open reading frame. The gene was assigned by in situ hybridization of metaphase chromosomes to the 17p13-->p12 region of the human genome, in proximity to the tumor-suppressor gene encoding p53. When used as a probe on Southern blots under moderately stringent conditions, it hybridizes to at least three closely related genes. A restriction fragment length polymorphism was detected after MspI digestion. Mendelian segregation of the gene was assessed in three CEPH families, and linkage analysis confirmed the localization of the locus [less ▲]

Detailed reference viewed: 17 (5 ULg)
Full Text
Peer Reviewed
See detailExpression of members of the putative olfactory receptor gene family in mammalian germ cells.
Parmentier, M.; Libert, F.; Schurmans, Stéphane ULg et al

in Nature (1992), 355

A series of genomic and complementary DNA clones encoding new putative members of G protein-coupled receptors were isolated using homology cloning and low-stringency polymerase chain reaction. Among the ... [more ▼]

A series of genomic and complementary DNA clones encoding new putative members of G protein-coupled receptors were isolated using homology cloning and low-stringency polymerase chain reaction. Among the unidentified receptors ('orphan receptors'), a human genomic clone (HGMP07) was characterized by the presence of its transcripts in the testis and by its belonging to a large subfamily of genes sharing extensive sequence similarities. Sequence comparison demonstrated that this gene subfamily is the human counterpart of the putative rat olfactory receptors cloned recently. Another 48 members of the family were cloned. Northern blotting further demonstrated the presence of olfactory receptor transcripts in germ cells. Our finding suggests that a common receptor gene family encodes olfactory receptors and sperm cell receptors that could be involved in chemotaxis during fertilization [less ▲]

Detailed reference viewed: 21 (5 ULg)
Peer Reviewed
See detailIdentification of orphan G protein-coupled receptors
Vassart, G.; Parmentier, M.; Libert, M. et al

in Clinical Neuropharmacology (1992), 15

Detailed reference viewed: 5 (2 ULg)
Peer Reviewed
See detailOn the Use of DNA Fingerprints for Linkage Studies in Cattle
Georges, Michel ULg; Lathrop, M.; Hilbert, P. et al

in Genomics (1990), 6(3), 461-474

To find a marker for the bovine "muscular hypertrophy" gene and for the "roan" locus, we have typed six cattle pedigrees totaling 540 animals for nine blood group systems, for 12 biochemical markers, for ... [more ▼]

To find a marker for the bovine "muscular hypertrophy" gene and for the "roan" locus, we have typed six cattle pedigrees totaling 540 animals for nine blood group systems, for 12 biochemical markers, for RFLPs at four loci, and with five probes revealing multilocus DNA fingerprints. Segregation analysis of the fingerprint bands showed that, in cattle, a fingerprint probe will reveal a mean of 7.6 clearly resolvable bands, behaving as simple, highly informative Mendelian entities characterized by a mean mutation rate of +/- 1/4500 gametes. For one of the bands, we observed a "mutation burst" generating germline mosaicism. Because some of the fingerprint bands were allelic or corresponded to clustered minisatellites, a mean of only 5.7 independent loci is explored per probe. Fingerprint bands revealed by different probes also show a clear propensity for close linkage, pointing toward nonrandom distribution of minisatellite sequences or the existence of minisatellite clusters. Although this reduces the power of fingerprints for linkage analysis substantially, we were able to demonstrate genetic linkage between fingerprint bands and at least three of the classical markers, to exclude the roan locus from 4.5 Morgans of the bovine genome with the DNA fingerprints and for an additional 2.5 Morgans with the classical markers, and to identify a solid candidate marker for the bovine muscular hypertrophy gene, yielding a lod score greater than or equal to 2.84 without any obliged recombinant. [less ▲]

Detailed reference viewed: 20 (2 ULg)
Peer Reviewed
See detailLinkage Relationships among 20 Genetic Markers in Cattle. Evidence for Linkage between Two Pairs of Blood Group Systems: B-Z and S-F/V Respectively
Georges, Michel ULg; Lathrop, M.; Bouquet, Y. et al

in Animal Genetics (1990), 21(2), 95-105

Five bovine paternal half-sib pedigrees for a total of 527 individuals were typed for six blood group systems: A, B, F/V, L, S, Z; for nine biochemical polymorphisms: ADA, MPI, PGM-3(slow), NP, Gc, Pi2 ... [more ▼]

Five bovine paternal half-sib pedigrees for a total of 527 individuals were typed for six blood group systems: A, B, F/V, L, S, Z; for nine biochemical polymorphisms: ADA, MPI, PGM-3(slow), NP, Gc, Pi2, Tf, Ptf1 and Ptf2; and for restriction fragment length polymorphisms at five autosomal loci: Tg, GH, LDLr, BoLA-DQ and BoLA-DY. Two of the pedigrees were informative for segregation at the 'muscular hypertrophy' locus, and one was informative at the coat colour determining 'roan' locus. Linkage analysis was performed between all markers. Linkage was demonstrated between the S and F/V blood group systems (z = 3.11), adding one locus to the previously identified linkage group VII (LGVII) [Pi-2 and S], the most likely order being Pi2-S-F/V with maximum likelihood recombination rates of 0.208 and 0.211. Also shown to be linked were the blood group systems B and Z (z = 5.7, theta = 0.245). We confirmed the observation previously made by Andersson et al. (1988) of a high recombination rate between class II genes DQ and DY, suggesting either a larger physical distance between those genes than expected from comparative data, or the presence of a 'recombinational hotspot' in the bovine major histocompatibility complex. No linkage was found either with the 'muscular hypertrophy' locus, or with the 'roan' locus. However, these two loci could be excluded from respectively 1.7 and 2.5 Morgans of the bovine genome. [less ▲]

Detailed reference viewed: 12 (1 ULg)
Peer Reviewed
See detailA polymorphic satellite sequence maps to the pericentric region of the bovine Y chromosome
Perret, J.; Shia, Y.; Fries, R. et al

in Genomics (1990), 6(3), 482-490

Exploiting a serendipitously observed bovine male-specific signal, generated by the mouse pSP64.2.5EI minisatellite probe, we have cloned a bovine (Bos taurus) Y-specific sequence: btDYZ-1. This sequence ... [more ▼]

Exploiting a serendipitously observed bovine male-specific signal, generated by the mouse pSP64.2.5EI minisatellite probe, we have cloned a bovine (Bos taurus) Y-specific sequence: btDYZ-1. This sequence is composed of 60 tandem repetitions of a motif consisting of two parts: a 40-bp-long unit, showing a mean divergence of 27% between repeats, separated from the next repeat by a TG-rich stretch varying in length between 12 and 63 bp. The number of copies of this repeated motif has been estimated at 6 X 10(4) per male genome. As a consequence, the corresponding satellite, DYZ-1, might represent approximately 1/20 of the bovine Y chromosome. btDYZ-1 has been mapped by in situ hybridization to the pericentric region of the Y chromosome. It is characterized by a substantial genetic polymorphism and has been shown to be conserved within the Bos and Bison genera of the Bovinae subfamily. This sequence is being used to develop a sexing procedure for bovine preimplantation embryos based on the polymerase chain reaction. [less ▲]

Detailed reference viewed: 20 (2 ULg)
Peer Reviewed
See detailAnalysis of genetic variation in the Belgian Blue Cattle Breed using DNA sequence polymorphism at the growth hormone, low density lipoprotein receptor, -subunit of glycoprotein hormones and thyroglobulin loci
Hilbert, P.; Marcotte, F.; Schwers, A. et al

in Animal Genetics (1989), 20

New DNA sequence polymorphisms were identified at four bovine autosomal loci: growth hormone, low density lipoprotein receptor, alpha-subunit of glycoprotein hormones and thyroglobulin. Assuming ... [more ▼]

New DNA sequence polymorphisms were identified at four bovine autosomal loci: growth hormone, low density lipoprotein receptor, alpha-subunit of glycoprotein hormones and thyroglobulin. Assuming independent assortment between these polymorphisms, the probabilities to be heterozygous at these four loci are 0.48, 0.36, 0.10 and 0.77 respectively, within the Belgian Blue Cattle breed (BBCB). Nucleotide diversity was estimated, showing that animals from the BBCB are heterozygous for 1/1450 nucleotides, a value significantly lower than the 1/500 value found in man. Moreover, we have estimated that the mutation rate at the cytosines of CG dinucleotides is about 10 times higher than that for other nucleotides. [less ▲]

Detailed reference viewed: 26 (6 ULg)