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See detailMutations in the immunosuppressive peptide of bovine leukema virus affect fusion and infectivity in vivo
Gatot, Jean-Stéphane; Kettmann, Richard ULg; Callebaut-Mornon, Isabelle et al

in Virus Research (1997), 47(2-Special Issue), 103

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See detailMutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies
Bielas, S. L.; Silhavy, J. L.; Brancati, F. et al

in Nature Genetics (2009), 41

Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events1 ... [more ▼]

Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events1. Joubert syndrome is characterized by a specific midbrain-hindbrain malformation (‘molar tooth sign’), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly2 and is included in the newly emerging group of ‘ciliopathies’. In individuals with Joubert disease genetically linked to JBTS1, we identified mutations in the INPP5E gene, encoding inositol polyphosphate-5-phosphatase E, which hydrolyzes the 5-phosphate of PtdIns(3,4,5)P3 and PtdIns(4,5)P2. Mutations clustered in the phosphatase domain and impaired 5-phosphatase activity, resulting in altered cellular PtdIns ratios. INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. These data link PtdIns signaling to the primary cilium, a cellular structure that is becoming increasingly recognized for its role in mediating cell signals and neuronal function [less ▲]

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See detailMutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
Postma, A. V.; Alders, M.; Sylva, M. et al

in Journal of medical genetics (2013)

BACKGROUND: The T gene (brachyury gene) is the founding member of the T-box family of transcription factors and is vital for the formation and differentiation of the mesoderm and the axial development of ... [more ▼]

BACKGROUND: The T gene (brachyury gene) is the founding member of the T-box family of transcription factors and is vital for the formation and differentiation of the mesoderm and the axial development of all vertebrates. RESULTS: We report here on four patients from three consanguineous families exhibiting sacral agenesis, a persistent notochordal canal and abnormal ossification of the vertebral bodies, and the identification and characterisation of their underlying genetic defect. Given the consanguineous nature and the similarity of the phenotypes between the three families, we performed homozygosity mapping and identified a common 4.1 Mb homozygous region on chromosome 6q27, containing T, brachyury homologue (mouse) or T. Sequencing of T in the affected individuals led to the identification of a homozygous missense mutation, p.H171R, in the highly conserved T-box. The homozygous mutation results in diminished DNA binding, increased cell growth, and interferes with the normal expression of genes involved in ossification, notochord maintenance and axial mesoderm development. CONCLUSIONS: We have identified a shared homozygous mutation in three families in T and linked it to a novel syndrome consisting of sacral agenesis, a persistent notochordal canal and abnormal ossification of the vertebral bodies. We suggest that screening for the ossification of the vertebrae is warranted in patients with sacral agenesis to evaluate the possible causal involvement of T. [less ▲]

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See detailMutations in type 1 procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies.
Prockop, D. J.; Colige, Alain ULg; Helminen, H. et al

in Journal of Bone and Mineral Research (1993), 8 Suppl 2

Work by a large number of investigators over the last decade has established that over 90% of patients with osteogenesis imperfecta have mutations in one of the two genes for type I procollagen, that most ... [more ▼]

Work by a large number of investigators over the last decade has established that over 90% of patients with osteogenesis imperfecta have mutations in one of the two genes for type I procollagen, that most unrelated probands have different mutations in the genes, and that the mutations found in most of the serious variants of the disease cause synthesis of abnormal pro alpha chains of the protein. The results have demonstrated that synthesis of structurally abnormal but partially functional pro alpha chains can interfere with folding of the central region of the protein into a triple-helical conformation, prevent processing of the N-terminal propeptides of procollagen, or produce subtle alterations in conformation that interfere with the self-assembly of the protein into collagen fibrils. One of the unsolved mysteries about the disease is why some mutations produce severe phenotypes, whereas very similar mutations produce mild phenotypes. Recent studies in transgenic mice suggest that nongenetic factors, such as stochastic events during development, may determine the severity of the disease phenotype produced by a specific mutation. Also, recent results raised the possibility that strategies of antisense gene therapy may be effective in treating the disease some time in the future. Specific inhibition of expression of a mutated collagen gene has been obtained with antisense oligonucleotides in cell culture experiments. However, there is no means of selective delivery of antisense oligonucleotides to the appropriate tissues. [less ▲]

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See detailMutations Inactivating Mitochondrial Genes in Chlamydomonas Reinhardtii
Remacle, Claire ULg; Duby, Franceline ULg; Cardol, Pierre ULg et al

in Biochemical Society Transactions (2001), 29(Pt 4), 442-6

Chlamydomonas reinhardtii is now becoming a useful model for the study of mitochondrial genetics in a photosynthetic organism. The small (15.8 kb) mitochondrial genome C. reinhardtii has been sequenced ... [more ▼]

Chlamydomonas reinhardtii is now becoming a useful model for the study of mitochondrial genetics in a photosynthetic organism. The small (15.8 kb) mitochondrial genome C. reinhardtii has been sequenced completely and all the genes have been identified. Several mutants inactivated in mitochondrial genes encoding components of the respiratory complexes I, III and IV have been characterized at the molecular level. Assembly of complex I in several mutant strains and mapping of mitochondrial mutations by recombinational analysis are also described. [less ▲]

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See detailMutations near amino end of alpha 1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing
Cabral, Wayne A.; Makareeva, Elena; Colige, Alain ULg et al

in Journal of Biological Chemistry (2005), 280(19), 19259-19269

Patients with OI/EDS form a distinct subset of osteogenesis imperfecta (OI) patients. In addition to skeletal fragility, they have characteristics of Ehlers-Danlos syndrome (EDS). We identified 7 children ... [more ▼]

Patients with OI/EDS form a distinct subset of osteogenesis imperfecta (OI) patients. In addition to skeletal fragility, they have characteristics of Ehlers-Danlos syndrome (EDS). We identified 7 children with types III or IV OI, plus severe large and small joint laxity and early progressive scoliosis. In each child with OI/EDS, we identified a mutation in the first 90 residues of the helical region of α 1(I) collagen. These mutations prevent or delay removal of the procollagen N-propeptide by purified N-proteinase (ADAMTS-2) in vitro and in pericellular assays. The mutant pN-collagen which results is efficiently incorporated into matrix by cultured fibroblasts and osteoblasts and is prominently present in newly incorporated and immaturely cross-linked collagen. Dermal collagen fibrils have significantly reduced cross-sectional diameters, corroborating incorporation of pN-collagen into fibrils in vivo. Differential scanning calorimetry revealed that these mutant collagens are less stable than the corresponding procollagens, which is not seen with other type I collagen helical mutations. These mutations disrupt a distinct folding region of high thermal stability in the first 90 residues at the amino end of type I collagen and alter the secondary structure of the adjacent N-proteinase cleavage site. Thus, these OI/EDS collagen mutations are directly responsible for the bone fragility of OI and indirectly responsible for EDS symptoms, by interference with N-propeptide removal. [less ▲]

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See detailLes mutations NEM-1 dans les familles belges
Beckers, Albert ULg

Scientific conference (1997, November)

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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 ▲]

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See detailMutations récentes de la structure et de la localisation de l'industrie en Belgique, 1970-1980
Merenne-Schoumaker, Bernadette ULg

in Hommes et Terres du Nord (1980), (4), 41-51

The aim of this article is to distinguish the principal changes which have affected Belgian industry since 1970 - changes in structure, on one hand, and in localisation, on the other. When examining the ... [more ▼]

The aim of this article is to distinguish the principal changes which have affected Belgian industry since 1970 - changes in structure, on one hand, and in localisation, on the other. When examining the available data, four main facts seem to emerge : the distinct fall in employment in most branches, the difficulties in maintaining the fields most threatened by foreign competition, the problems in developing regions where declining industries are concentrated and the very dear impact of industrial zones in new localisations. [less ▲]

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See detailLes mutations récentes du champ éditorial belge
Habrand, Tanguy ULg

Conference (2008, December 12)

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See detailMutations structurelles d'emploi et insertion professionnelle
Gavray, Claire ULg

in Lettre d'information TEF (1996), 4

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See detailMutations urbaines et développement durable : les surcoûts de la désurbanisation
Halleux, Jean-Marie ULg

Conference given outside the academic context (2001)

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See detailMutations urbaines et problématique d'accès à l'eau potable et à l'assainissement dans une zone urbaine d'un pays en développement : cas de la ville de Yaoundé (Centre-Cameroun)
Kouam Kenmogne, Guy-Romain; Djomou Bopda, Serge Laurent; Rosillon, Francis ULg

in Actes du 5ème colloque international Water resources and sustainable development (2013)

La présente étude réalisée dans le bassin versant de l'Abiergué à Yaoundé (Cameroun) a permis de mettre en exergue les lacunes liées aux services d'accès à l'eau potable et à l'assainissement dans le ... [more ▼]

La présente étude réalisée dans le bassin versant de l'Abiergué à Yaoundé (Cameroun) a permis de mettre en exergue les lacunes liées aux services d'accès à l'eau potable et à l'assainissement dans le processus d'urbanisation galopante et non planifiée d'une ville ou d'un pays en développement. Les ménages ont recours au réseau conventionnel (40,3 %), puits (37,1 %), sources (10,1 %), bornes fontaines (9,2 %) et forages (2,4 %) pour couvrir leurs besoins en eau. L'évacuation des excrétas se fait au travers des latrines à fond perdu (58,7 %), latrines à canon (7,7 %), latrines améliorées (5,5 %) et wc modernes avec fosse (24,1 %). Les déchets solides sont évacués suivant divers canaux : bacs publics (49,1 %), enlèvement direct par le concessionnaire (20,2 %), terrains vagues (13,8 %), fosses (6,3 %), rigoles (5,5 %) et service de précollecte (1,7 %). Il incombe en premier aux pouvoirs publics aidés par les acteurs non institutionnels d'y apporter des solutions malgré les pesanteurs d'ordre social, économique et foncier. [less ▲]

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See detailMutatis Mutandis : les spectacles du corps paranoïde. Renouveau des agents mutagènes à Hollywood
Tomasovic, Dick ULg

in Guido, Laurent (Ed.) Les Peurs de Hollywood (2006)

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See detailLa mutazione R304X del gene AIP negli adenomi ipofisari : caratteristiche bio-cliniche e aspetti genetici e funzionali
Jaffrain-Réa, M. L.; Occhi, G.; de Menis, E. et al

in 4th Incontri Italiano Sulle Malattie Ipotalamo-Ipofisarie : Ferrara 29-31 gennaio 2009 (2009, January)

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See detailLes mutilations spontanées ou l’autonomie
Fredericq, Léon ULg

in Revue Scientifique (1886), XXXVIII(20), 613-620

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See detailMutliproxy investigation of climatic and anthropogenic changes in a Baltic bog (N. Poland) during the last millennium
De Vleeschouwer, François; Fagel, Nathalie ULg; Piotrowska, Natalia et al

Poster (2010)

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See detailA mutliwavelength observational study of the non-thermal emission from O-type stars.
De Becker, Michaël ULg

Doctoral thesis (2005)

The present work is devoted to an observational multiwavelength study of the non-thermal emission of O-type stars. The non-thermal radio emission is believed to be synchrotron radiation, therefore ... [more ▼]

The present work is devoted to an observational multiwavelength study of the non-thermal emission of O-type stars. The non-thermal radio emission is believed to be synchrotron radiation, therefore requiring the existence of a magnetic field as well as of a population of relativistic electrons. The physical circumstances responsible for the acceleration of electrons up to relativistic velocities are not yet completely elucidated, but such an acceleration most probably occurs through the first order Fermi mechanism in the presence of hydrodynamic shocks, also called the Diffusive Shock Acceleration (DSA) mechanism. In the context of massive stars, the shocks responsible for this acceleration process may be intrinsic to their stellar winds, or arise from the collision between stellar winds in binary systems. In addition, the existence of non-thermal emission processes such as inverse Compton scattering suggests the possibility to detect a high-energy counterpart to the non-thermal emission observed in the radio domain. The objectives of this work are to (1) study the impact of the multiplicity on the non-thermal emission, (2) investigate the issue of the non-thermal emission of massive stars in the high-energy domain, and (3) discuss the possibility to constrain physical quantities such as the magnetic field strength through the study of these non-thermal emission processes. We investigate in detail several non-thermal emitting O-type stars, namely HD168112, HD167971, Cyg OB2 #8A, Cyg OB2 #9, and HD15558. For most of these targets, high quality XMM-Newton data are used in order to study their X-ray properties. In most case, the question of the multiplicity is also addressed through optical studies performed on the basis of data obtained with ground-based telescopes. The most intensive study is carried out on the Cyg OB2 region, for which we also obtained and analysed INTEGRAL data, in order to investigate the possible relation between the massive stars in Cyg OB2 and the unidentified EGRET source 3EG J2033+4118. In addition, high quality XMM-Newton data of the close massive binary HD159176 are also studied. Even though this latter target does not belong to the category of non-thermal radio emitters, its study unexpectedly turns out to be crucial in the context of this campaign as it might be the first O + O system likely to be classified as an n! on-thermal X-ray emitter. Considering our observational results, along with results from radio observations mainly coordinated by colleagues from the Royal Observatory of Belgium, we propose a general qualitative schematic view of the non-thermal emission from massive stars. First, it seems that the multiplicity plays a crucial role in the non-thermal emission processes. Second, we have found that the simultaneous detection of non-thermal radiation in the radio and X-ray (below 10.0 keV) domains is unlikely. Non-thermal radio emitters are indeed most probably binaries with periods longer than a few weeks, whilst only close binaries with periods of at most a few days may be non-thermal emitters in the soft X-ray domain. However, such a simultaneous detection is possible if the very hard X-rays or soft gamma-rays are considered, i.e. in a domain where the thermal emission from the colliding winds does not overwhelm the non-thermal emission. Moreover, it appears that the existence of non-thermal X-ray emitters without a non-thermal radio counterpart should be envisaged. Finally, the simultaneous detection of radio and high-energy non-thermal emissions is likely to lead to an indirect method to estimate the local magnetic field strength in the colliding-wind region of massive binaries. [less ▲]

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