PubMed Health⌕ Search

Biomedical subjects

J Roussel

Publications and source records attributed to J Roussel.

At least 19 recordsLinked to original sources
PubMed2006

A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3.

BACKGROUND: Intracranial aneurysms (IA) are dilatations of intracranial arteries that occur most commonly at arterial bifurcations. Unruptured IA are present in approximately 1-2% of the population aged over 30 years of age. Aneurysms are only rarely symptomatic unless they rupture, which typically results in a subarachnoid haemorrhage associated with high morbidity and mortality. METHODS: A large French Canadian (FC) family (Aneu60) was identified which contained 12 affected individuals with intracranial aneurysms. Nine of the affected patients and three unaffected individuals were sent for an 8 cM genome-wide scan. Multipoint and two-point methods were used to analyse the scan data by using a dominant parametric model. RESULTS: We identified an IA susceptibility locus (ANIB4) located on chromosome 5p15.2-14.3. The locus was found by genome-wide linkage analysis and follow up analyses provided a maximum multipoint LOD score of 3.57 over the region. An identical haplotype segment of 7.2 Mb was found in a second FC pedigree and contributes to the refinement of the candidate gene interval. CONCLUSIONS: Our results indicate that there is a major gene locus on chromosome 5p.

Adult↗
PubMed2005

CCM3 mutations are uncommon in cerebral cavernous malformations.

Cerebral cavernous malformations (CCMs) are characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Mutations in the gene PDCD10 have been found in CCM families linked to the CCM3 locus. The authors screened this gene in 15 families that did not have a CCM1 or CCM2 mutation. Only two novel mutations were found, suggesting that mutations in this gene may only account for a small percentage of CCM familial cases.

Apoptosis Regulatory Proteins↗
PubMed2003

A novel vascular endothelial growth factor-directed therapy that selectively activates cytotoxic prodrugs.

We have generated fusion proteins between vascular endothelial growth factor (VEGF) and the bacterial enzyme carboxypeptidase G2 (CPG2) that can activate the prodrug 4-[(2-chloroethyl)(2-mesyloxyethyl)amino]benzoyl-L-glutamic acid (CMDA). Three asparagine residues of CPG2 were mutated to glutamine (CPG2(Q)3) to prevent glycosylation during secretion, and truncations of VEGF(165) were fused to either the C- or N-terminal of CPG2. The K(m) of the fusion proteins (37.5 microM) was similar to that of secreted CPG2(Q)3 (29.5 microM) but greater than that of wild-type CPG2 (8 microM). The affinity of the fusion proteins for VEGF receptor-2 (VEGFR2) (K(d)=0.5-1.1 nM) was similar to that of [(125)I]VEGF (K(d)=0.5 nM) (ELISA) or slightly higher (K(d)=1.3-9.6 nM) (competitive RIA). One protein, VEGF(115)-CPG2(Q)3-H(6), possessed 140% of the enzymic activity of secreted CPG2(Q)3, and had a faster half-maximal binding time for VEGFR2 (77 s), than the other candidates (330 s). In vitro, VEGF(115)-CPG2(Q)3-H(6) targeted CMDA cytotoxicity only towards VEGFR-expressing cells. The plasma half-life of VEGF(115)-CPG2(Q)3-H(6) in vivo was 3 h, comparable to equivalent values observed in ADEPT. We conclude that enzyme prodrug therapy using VEGF as a targeting moiety represents a promising novel antitumour therapy, with VEGF(115)-CPG2(Q)3-H(6) being a lead candidate.

Adenocarcinoma↗
PubMed2001

Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment.

Mutations were identified in the Cu/Zn superoxide dismutase gene (SOD1) in approximately 15% of patients with familial amyotrophic lateral sclerosis. Transgenic animals expressing mutant SOD1 in all tissues develop an ALS-like phenotype. To determine whether neuron-specific expression of mutant SOD1 is sufficient to produce such a phenotype, we generated transgenic animals carrying the G37R mutation that is associated with the familial form of ALS (FALS), which is driven by the neurofilament light chain promoter. The transgenic animals express high levels of the human SOD1 protein in neuronal tissues, especially in the large motor neurons of the spinal cord, but they show no apparent motor deficit at up to 1.5 years of age. Our animal model suggests that neuron-specific expression of ALS-associated mutant human SOD1 may not be sufficient for the development of the disease in mice.

Amino Acid Substitution↗
PubMed2000

TNF receptor family member BCMA (B cell maturation) associates with TNF receptor-associated factor (TRAF) 1, TRAF2, and TRAF3 and activates NF-kappa B, elk-1, c-Jun N-terminal kinase, and p38 mitogen-activated protein kinase.

BCMA (B cell maturation) is a nonglycosylated integral membrane type I protein that is preferentially expressed in mature B lymphocytes. Previously, we reported in a human malignant myeloma cell line that BCMA is not primarily present on the cell surface but lies in a perinuclear structure that partially overlaps the Golgi apparatus. We now show that in transiently or stably transfected cells, BCMA is located on the cell surface, as well as in a perinulear Golgi-like structure. We also show that overexpression of BCMA in 293 cells activates NF-kappa B, Elk-1, the c-Jun N-terminal kinase, and the p38 mitogen-activated protein kinase. Coimmunoprecipitation experiments performed in transfected cells showed that BCMA associates with TNFR-associated factor (TRAF) 1, TRAF2, and TRAF3 adaptor proteins. Analysis of deletion mutants of the intracytoplasmic tail of BCMA showed that the 25-aa protein segment, from position 119 to 143, conserved between mouse and human BCMA, is essential for its association with the TRAFs and the activation of NF-kappa B, Elk-1, and c-Jun N-terminal kinase. BCMA belongs structurally to the TNFR family. Its unique TNFR motif corresponds to a variant motif present in the fourth repeat of the TNFRI molecule. This study confirms that BCMA is a functional member of the TNFR superfamily. Furthermore, as BCMA is lacking a "death domain" and its overexpression activates NF-kappa B and c-Jun N-terminal kinase, we can reasonably hypothesize that upon binding of its corresponding ligand BCMA transduces signals for cell survival and proliferation.

Amino Acid Sequence↗
PubMed1998

The characterization of murine BCMA gene defines it as a new member of the tumor necrosis factor receptor superfamily.

The BCMA gene is a new gene discovered by the molecular analysis of a t(4;16) translocation, characteristic of a human T cell lymphoma. It has no significant similarity with any known protein or motif, so that its function was unknown. This report describes the cloning of murine BCMA cDNA and its genomic counterpart. The mouse gene is organized into three exons, like the human gene, and lies in murine chromosome 16, in the 16B3 band, the counterpart of the human chromosome 16p13 band, where the human gene lies. Murine BCMA cDNA encodes a 185 amino acids protein (184 residues for the human), has a potential central transmembrane segment like the human protein and is 62% identical to it. The murine BCMA mRNA is found mainly in lymphoid tissues, as is human BCMA mRNA. Alignment of the murine and human BCMA protein sequences revealed a conserved motif of six cysteines in the N-terminal part, which strongly suggests that the BCMA protein belongs to the tumor necrosis factor receptor (TNFR) superfamily. Human BCMA is the first member of the TNFR family to be implicated in a chromosomal translocation.

Amino Acid Sequence↗
PubMed1991

High heterogeneity of the exopolysaccharides of Pseudomonas solanacearum strain GMI 1000 and the complete structure of the major polysaccharide.

The exopolysaccharide of Pseudomonas solanacearum, which is believed to play an important role in bacterial virulence, was considered by most authors as a homogeneous entity essentially composed of N-acetylgalactosamine. The present work demonstrates the high degree of heterogeneity of this exopolysaccharidic material, which consists of a high molecular weight acidic polysaccharide and a mainly noncarbohydrate structure as major subfractions. Rhamnose-rich polyoside and glucan fractions are also present as minor components. We report the complete structure of the acidic heteropolymer involving, in addition to N-acetylgalactosamine, equimolar ratios of two rare amino sugars, 2-N-acetyl-2-deoxy-L-galacturonic acid and 2-N-acetyl-4-N-(3-hydroxybutanoyl)-2,4,6-trideoxy-D-glucose. The structure of this acidic exopolysaccharide provides the first precise basis for the analysis of the correlation exopolysaccharide structure with pathogenicity in P. solanacearum.

Acetylgalactosamine↗
PubMed1990

A novel mycolic acid in a Mycobacterium sp. from the environment.

A fast-growing, non-photochromogenic mycobacterium isolated from the environment exhibited, on thin-layer chromatograms, a characteristic pattern of mycolates composed of unsaturated mycolates and also an unknown more polar component. Spectroscopic analysis and chemical degradation showed that this latter component was a novel mycolic acid containing a methoxy group at the omega-1 position (instead of omega-17 and omega-18 in known methoxymycolates), and two double bonds in the long mero aldehyde chain (instead of one as in known mycolates with additional oxygenated groups).

Magnetic Resonance Spectroscopy↗
PubMed1990

[Chemotaxonomy of gram-positive bacteria metabolizing beta-caryophyllene].

Chemotaxonomic identification of coryneform bacteria metabolizing b-caryophyllene was attempted. The following phospholipids were identified as main components of the bacterial extracts: cardiolipids, phosphatidylethanolamine, phosphatidylinositol and mannosides of phosphatidylinositol. Saponification of the lipid extracts gave a mixture of hydroxylated and nonhydroxylated fatty acids. Among the latter, oleic and tuberculostearic acids were identified. The hydroxylated fatty acids were analysed by thin-layer chromatography and mass spectrometry (as methyl esters). From the results thus obtained, the strains appeared to be more closely related to the genus Rhodococcus than to the genus Nocardia.

Chromatography, Gas↗
PubMed1988

[Parostal lipoma of the axilla. Apropos of a case and review of the literature].

The authors report a case of soft tissue tumor discovered fortuitously in a 52 year old woman. This lesion was in the axilla and on standard films was seen as a well-defined radiotransparent zone, accompanied by a typical spiculated bone reaction of the lateral edge of the scapula. CT and MRI confirmed the fatty and noninvasive nature of the lesion. Histopathological examination of the operative specimen showed it to be a parostal lipoma.

Axilla↗
PubMed1980

Fatty acid composition of the lipids of Pseudomonas mildenbergii. Presence of a fatty acid containing two conjugated double bonds.

The whole cell fatty acids of Pseudomonas mildenbergii were extracted and separated, as methyl esters, into non-hydroxylated (60.6%) and hydroxylated (39.4%) esters. The main component of the hydroxy-ester fraction was methyl 3D-hydroxydecanoate. The non-hydroxylated fraction mainly consisted of methyl 2-decenoate, the methyl ester of a C-12 acid having two conjugated double bonds, methyl palmitate, methyl methylene-hexadecanoate and methyl vaccenate.

Chemical Phenomena↗
PubMed1978

[Distal fixation of the intima after endarterectomy. Technical variation].

Oblique termination in a "bevel" of the distal endartery and its fixation by a circumferential continuous suture which provides a surface which is as stable and regular as possible, after endarterectomy. This may favourise improuved distal flow and influence immediate and late local permeability.

Arteries↗
PubMed1977

[Splenic arterial aneurysm rupturing into the splenic vein. A rare cause of acute fortal hypertension in the post-partum period (author's transl)].

Following the sudden onset of a clinical syndrome of acute portal hypertension in a young woman in the course of childbirth, angiography revealed a voluminous aneurysm of the splenic artery rupture into the splenic vein. Surgical treatment was successful. The authors review the main characteristics of splenic arterio-venous fistulae and discuss the physiopathological problems of portal hypertension associated with such lesions.

Adult↗
PubMed1976

[The value of double contrast radiological exploration in the study of pathological appearances of the greater curvature of the stomach (author's transl)].

The authors indicate the special points relative to effective double contrast radiological exploration of the greater curvature of the stomach (high titre barium suspension, with high covering power; maximal insufflation of the gastric cavity; decubitus films always complemented by filling images in procubitus and in a vertical position. They then present the principal features which may be encountered using the method: -addition images in relation with ulcerated lesions; -lacunae indicative of localised parietal proliferation; - "double contour" appearances corresponding to infiltrating tumors with a broad surface; - "thick folds" of the greater curvature which, apart from the classical causes, should first suggest an inflammatory or tumoural process in the underlying pancreas; - extrinsic imprints, the topographical location and appearances of which may indicate their origin.

Humans↗
PubMed1976

[Double contrast exploration of the stomach after surgery (author's transl)].

The authors describe the application of double contrast radiological exploration in the stomach after surgery. They show normal and pathological results after the principal types of gastric surgery: excisions, conservative procedures, hiatal hernia surgery. Apart from the post-operative period, the technique may be used without major difficulties. The precise images obtained render it the technique of choice for the detection of the organic complications of gastroduodenal surgery.

Gastrectomy↗
PubMed1976

[Use of Dodger filters in osteoarticular radiology].

Dodger filters represent considerable progress in the harmonization of the contrast in radiography by modulation of the incident Y-ray beam. The originality of these filters is related to three factors: the mobility of the filter elements, their shape, and in particular the presence of a specific optical system that makes it possible, by demonstrating the filter lines with a luminous ray, to predict and adapt the attenuation effects obtained. Osteo-articular radiology can now be viewed in a new light, as it is possible with Dodger filters to obtain on a single fim, valid images of the whole of the bony structure of a region as well as of the corresponding soft tissues.

Arthrography↗