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See detailThree arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.
Malfait, Fransiska; Symoens, Sofie; De Backer, Julie et al

in Human Mutation (2007), 28(4), 387-95

Mutations in the COL1A1 and COL1A2 genes, encoding the proalpha1 and 2 chains of type I collagen, cause osteogenesis imperfecta (OI) or Ehlers-Danlos syndrome (EDS) arthrochalasis type. Although the ... [more ▼]

Mutations in the COL1A1 and COL1A2 genes, encoding the proalpha1 and 2 chains of type I collagen, cause osteogenesis imperfecta (OI) or Ehlers-Danlos syndrome (EDS) arthrochalasis type. Although the majority of missense mutations in the collagen type I triple helix affect glycine residues in the Gly-Xaa-Yaa repeat, few nonglycine substitutions have been reported. Two arginine-to-cysteine substitutions in the alpha1(I)-collagen chain are associated with classic EDS [R134C (p.R312C)] or autosomal dominant Caffey disease with mild EDS features [R836C (p.R1014C)]. Here we show alpha1(I) R-to-C substitutions in three unrelated patients who developed iliac or femoral dissection in early adulthood. In addition, manifestations of classic EDS in Patient 1 [c.1053C>T; R134C (p.R312C); X-position] or osteopenia in Patients 2 [c.1839C>T; R396C (p.R574C); Y-position] and 3 [c.3396C>T; R915C (p.R1093C); Y-position] are seen. Dermal fibroblasts from the patients produced disulfide-bonded alpha1(I)-dimers in approximately 20% of type I collagen, which were efficiently secreted into the medium in case of the R396C and R915C substitution. Theoretical stability calculations of the collagen type I heterotrimer and thermal denaturation curves of monomeric mutant alpha1(I)-collagen chains showed minor destabilization of the collagen helix. However, dimers were shown to be highly unstable. The R134C and R396C caused delayed procollagen processing by N-proteinase. Ultrastructural findings showed collagen fibrils with variable diameter and irregular interfibrillar spaces, suggesting disturbed collagen fibrillogenesis. Our findings demonstrate that R-to-C substitutions in the alpha1(I) chain may result in a phenotype with propensity to arterial rupture in early adulthood. This broadens the phenotypic range of nonglycine substitutions in collagen type I and has important implications for genetic counseling and follow-up of patients carrying this type of mutation. [less ▲]

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See detailLes origines de l’homme moderne
Otte, Marcel ULg; Zwyns, Nicolas; Flas, Damien ULg

Conference given outside the academic context (2007)

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See detailInventaire des sources statistiques préalable à un observatoire de l'écomonie plurielle
Marée, Michel ULg; Gijselinckx, Caroline

Report (2007)

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See detailFaecal bacterial dgge profiles of Crohn's disease patients are different from those of their healthy first degree relatives and matched healthy controls
Joossens, M.; Vanhoutte, T.; De Preter, V. et al

in Gastroenterology (2007), 132(4), 704-704

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See detailLa régionalisation des débits en Région wallonne
Gailliez, Sebastien; Dautrebande, Sylvia; Degre, Aurore ULg

(2007)

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See detailMultivariate reconstruction of missing data in sea surface temperature, chlorophyll, and wind satellite fields
Alvera Azcarate, Aïda ULg; Barth, Alexander ULg; Beckers, Jean-Marie ULg et al

in Journal of Geophysical Research. Oceans (2007), 112(C3), 03008

An empirical orthogonal function–based technique called Data Interpolating Empirical Orthogonal Functions (DINEOF) is used in a multivariate approach to reconstruct missing data. Sea surface temperature ... [more ▼]

An empirical orthogonal function–based technique called Data Interpolating Empirical Orthogonal Functions (DINEOF) is used in a multivariate approach to reconstruct missing data. Sea surface temperature (SST), chlorophyll a concentration, and QuikSCAT winds are used to assess the benefit of a multivariate reconstruction. In particular, the combination of SST plus chlorophyll, SST plus lagged SST plus chlorophyll, and SST plus lagged winds have been studied. To assess the quality of the reconstructions, the reconstructed SST and winds have been compared to in situ data. The combination of SST plus chlorophyll, as well as SST plus lagged SST plus chlorophyll, significantly improves the results obtained by the reconstruction of SST alone. All the experiments correctly represent the SST, and an upwelling/downwelling event in the West Florida Shelf reproduced by the reconstructed data is studied. [less ▲]

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See detailEvolution récente de quelques principes du droit de l'environnement et de l'urbanisme
Pâques, Michel ULg

in Questions choisies de droit de l'urbanisme et de l'environnement (2007)

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See detailNouvelles approches dans la prise en charge de l'infection a VIH.
Chandrika, K.; Dellot, Patricia ULg; Frippiat, Frédéric ULg et al

in Revue Médicale de Liège (2007), 62 Spec No

HIV infection remains a major problem of public health in Belgium as well as globally. The number of new diagnosies of HIV infection in Belgium remains between two and three daily. Given the dramatic ... [more ▼]

HIV infection remains a major problem of public health in Belgium as well as globally. The number of new diagnosies of HIV infection in Belgium remains between two and three daily. Given the dramatic effect of antiretroviral therapy on the mortality due to HIV infection, the number of patients is constantly increasing. The different problems related to HIV care are also changing. Aging of the patients and chronic exposure to antiretroviral medications have induced new complications. We will present in this brief article several new experimental and clinical approaches in which our centre has participated during the last two years. [less ▲]

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See detailMise en place d’une session d’interrogations formatives au mois de novembre: impact sur la motivation et les performances ultérieures des étudiants
Mignon, Jacques ULg; Closset, Jean-Louis ULg

in Actes du 24e congrès de l’Association internationale de pédagogie universitaire (AIPU) (2007)

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See detailCompetition for amino acids as a potential mechanism of Aureobasidium pullulans against post-harvest apple blue mold.
Bencheqroun, S. K.; Bajji, M.; Labhilili, M. et al

in Bulletin OILB/SROP = IOBC/WPRS Bulletin (2007), 30(6(1)),

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See detailThe Dusty Young Universe: photometry and spectroscopy of quasars at z > 2
Meisenheimer, K.; Hutsemekers, Damien ULg; Tacconi, L. et al

Poster (2007)

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See detailRelevance of active faulting and seismicity studies to assessments of long-term earthquake activity and maximum magnitude in intraplate northwest Europe, between the Lower Rhine Embayment and the North Sea
Camelbeeck, Thierry; Vanneste, Kris; Alexandre, Pierre ULg et al

in Stein, S.; Mazzotti, S. (Eds.) Continental Intraplate Earthquakes: Science, Hazard and Policy Issues (2007)

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See detailEffect Of Extraction Conditions On The Yield, Purity And Surface Properties Of Sugar Beet Pulp Pectin Extracts
Yapo, Marcel Beda; Robert, Christelle; Etienne, Isabelle et al

in Food Chemistry (2007), 100(4), 1356-1364

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See detailWound age effect on the efficacy of Candida oleophila strain O against post-harvest decay of apple fruits.
Bajji, M.; Jijakli, Mohamed ULg

in Bulletin OILB/SROP = IOBC/WPRS Bulletin (2007), 30(6(1)), 279-282

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