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See detailMutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
Senderek, J.; Bergmann, C.; RAMAEKERS, Vincent ULg et al

in Brain (2003), 126(3), 642-649

Mutations in the gene for the ganglioside-induced differentiation-associated protein-1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive Charcot-Marie-Tooth (CMT) sensorimotor neuropathy ... [more ▼]

Mutations in the gene for the ganglioside-induced differentiation-associated protein-1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive Charcot-Marie-Tooth (CMT) sensorimotor neuropathy. Neurophysiology and nerve pathology were heterogeneous in these cases: a subset of GDAP1 mutations was associated with peripheral nerve demyelination, whereas others resulted in axonal degeneration. In this study, we identified two novel mutations disrupting the GDAP1 reading frame. Homozygosity for a single base pair insertion in exon 3 (c.349_350insT) was observed in affected children from a Turkish inbred pedigree. The other novel allele detected in a German patient was a homozygous mutation of the intron 4 donor splice site (c.579 + 1G>A). Patients with GDAP1 mutations displayed severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities were between 25 and 35 m/s and peripheral nerve pathology showed axonal as well as demyelinating changes. These findings fitted the definition of intermediate type CMT and further support the view that GDAP1 is vital for both, axonal integrity and Schwann cell properties. [less ▲]

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See detailMutations in the immunosuppressive peptide of bovine leukema virus affect fusion and infectivity in vivo
GATOT, Jean-Stéphane ULg; 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 detailMuti-scale methods with strain-softening: damage-enhanced MFH for composite materials and computational homogenization for cellular materials with micro-buckling
Noels, Ludovic ULg; Nguyen, Van Dung ULg; Wu, Ling ULg et al

Scientific conference (2014, April 14)

Materials used in the aerospace industry, as composite or foamed materials are multiscale in nature. To predict the macroscopic behaviour of structures made of such materials, the micro-scopic responses ... [more ▼]

Materials used in the aerospace industry, as composite or foamed materials are multiscale in nature. To predict the macroscopic behaviour of structures made of such materials, the micro-scopic responses should also be computed within a nested scheme. This is particularly true when non-linear behaviours are modelled, or when the failure and post failure analyses are sought. In this work, multi-scale methods with strain softening are developed in the contexts of damage modelling for composite laminates and of buckling analyses in cellular materials. First, an anisotropic gradient–enhanced continuum damage model is embedded in a mean–field homogenization (MFH) process for elasto-plastic composites. The homogenization procedure is based on the newly developed incremental secant mean-field homogenization formulation, for which the residual stress and strain states reached in the phases upon a fictitious elastic unloading are considered as starting point to apply the secant method. The mean stress fields in the phases are then computed using isotropic secant tensors, which are naturally used to define the Linear Comparison–Composite The resulting multi– scale model is then applied to study the damage process at the meso–scale of laminates, and in particular the damaging of plies in a composite stack. By using the gradient–enhanced continuum damage model, the problem of losing uniqueness upon strain softening is avoided. Second, an efficient multi–scale finite element framework capturing the buckling instabilities in cellular materials is developed. As a classical multi–scale computational homogenization scheme loses accuracy with the apparition of the macroscopic localizations resulting from the micro–buckling, the second order multi–scale computational homogenization scheme is considered. This second–order computational framework is enhanced with the following novelties so that it can be used for cellular materials. At the microscopic scale, the periodic boundary condition is used because of its efficiency. As the meshes generated from cellular materials exhibit a large void part on the boundaries and are not conforming in general, the classical enforcement based on the matching nodes cannot be applied. A new method based on the polynomial interpolation2 without the requirement of the matching mesh condition on opposite boundaries of the representative volume element (RVE) is developed. Next, in order to solve the underlying macroscopic Mindlin strain gradient continuum of this second–order scheme by the displacement–based finite element framework, the treatment of high order terms is based on the discontinuous Galerkin (DG) method to weakly impose the C1-continuity. Finally, as the instability phenomena are considered at both scales of the cellular materials, the path following technique is adopted to solve both the macroscopic and microscopic problems. [less ▲]

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See detailMuti-scale methods with strain-softening: damage-enhanced MFH for composite materials and computational homogenization for cellular materials with micro-buckling
Wu, Ling ULg; Nguyen, Van Dung ULg; Adam, Laurent et al

Conference (2014, June 06)

In this work, multi-scale methods with strain softening are developed in the contexts of damage modeling for composite laminates and of buckling analyses in cellular materials. First, an anisotropic ... [more ▼]

In this work, multi-scale methods with strain softening are developed in the contexts of damage modeling for composite laminates and of buckling analyses in cellular materials. First, an anisotropic gradient–enhanced continuum damage model is embedded in a mean–field homogenization (MFH) process for elasto-plastic composites. The homogenization procedure is based on the newly developed incremental secant mean-field homogenization formulation, for which the residual stress and strain states reached in the phases upon a fictitious elastic unloading are considered as starting point to apply the secant method. The mean stress fields in the phases are then computed using isotropic secant tensors, which are naturally used to define the Linear Comparison–Composite The resulting multi– scale model is then applied to study the damage process at the meso–scale of laminates, and in particular the damaging of plies in a composite stack. By using the gradient–enhanced continuum damage model, the problem of losing uniqueness upon strain softening is avoided. Second, an efficient multi–scale finite element framework capturing the buckling instabilities in cellular materials is developed. As a classical multi–scale computational homogenization scheme loses accuracy with the apparition of the macroscopic localizations resulting from the micro–buckling, the second order multi–scale computational homogenization scheme is considered. This second–order computational framework is enhanced with the following novelties so that it can be used for cellular materials. At the microscopic scale, the periodic boundary condition is used because of its efficiency. As the meshes generated from cellular materials exhibit a large void part on the boundaries and are not conforming in general, the classical enforcement based on the matching nodes cannot be applied. A new method based on the polynomial interpolation2 without the requirement of the matching mesh condition on opposite boundaries of the representative volume element (RVE) is developed. Next, in order to solve the underlying macroscopic Mindlin strain gradient continuum of this second–order scheme by the displacement–based finite element framework, the treatment of high order terms is based on the discontinuous Galerkin (DG) method to weakly impose the C1-continuity. Finally, as the instability phenomena are considered at both scales of the cellular materials, the path following technique is adopted to solve both the macroscopic and microscopic problems. [less ▲]

Detailed reference viewed: 31 (14 ULg)