Search Results - "Recan, D"

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene by Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Bécane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U., Vorgerd, M., Wicklein, E. M., Eymard, B., Duboc, D., Penisson-Besnier, I., Cuisset, J. M., Ferrer, X., Desguerre, I., Lacombe, D., Bushby, K., Pollitt, C., Toniolo, D., Fardeau, M., Schwartz, K., Muntoni, F.

“…Emery‐Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and…”
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Multitissular involvement in a family with LMNA and EMD mutations : Role of digenic mechanism? by BEN YAOU, R, TOUTAIN, A, LITIM, K. E, RAHMOUN-CHIALI, N, RICHARD, P, BABUTY, D, RECAN-BUDIARTHA, D, BONNE, G, ARIMURA, T, DEMAY, L, MASSART, C, PECCATE, C, MUCHIR, A, LLENSE, S, DEBURGRAVE, N, LETURCQ, F

“…Mutations in the EMD and LMNA genes, encoding emerin and lamins A and C, are responsible for the X-linked and autosomal dominant and recessive forms of…”
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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism by Muscatelli, Françoise, Strom, Tim M, Walker, Ann P, Zanaria, Elena, Récan, Dominique, Meindl, Alfons, Bardoni, Barbara, Guioli, Silvana, Zehetner, Günther, Rabl, Wolfgang, Peter Schwarz, Hans, Kaplan, Jean-Claude, Camerino, Giovanna, Meitinger, Thomas, Monaco, Anthony P

“…Adrenal hypoplasia congenita (AHC) is an X-linked disorder characterized by primary adrenal insufficiency. Hypogonadotropic hypogonadism (HHG) is frequently…”
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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity by Piccolo, F, Chaouch, M, Jeanpierre, M, Romero, N.B, Campbell, K.P, Voit, T, Kaplan, J-C, El Kerch, F, Collin, H, Roberds, S.L, Eymard, B, Fardeau, M, Leturcq, F, Beckmann, J.S, Sefiani, A, Tomé, F.M.S, Azibi, K, Récan, D, Reghis, A, Merlini, L, Beldjord, C, Carrié, A

“…Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein, has been reported in severe childhood autosomal recessive…”
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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins by Muntoni, F., Bonne, G., Goldfarb, L. G., Mercuri, E., Piercy, R. J., Burke, M., Yaou, R. Ben, Richard, P., Récan, D., Shatunov, A., Sewry, C. A., Brown, S. C.

“…Individuals with the same genetic disorder often show remarkable differences in clinical severity, a finding generally attributed to the genetic background. We…”
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Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy by Meune, C, Pascal, O, Bécane, H M, Héloire, F, Christoforou, D, Laforet, P, Eymard, B, Gueret, P, Leturcq, F, Recan, D, Devaux, J Y, Weber, S, Duboc, D

“…[...]systematic cardiac examinations are required. The detection of systolic dysfunction is known as a crucial issue for the prognostic evaluation of patients…”
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Mutations in Emery-Dreifuss Muscular Dystrophy and their Effects on Emerin Protein Expression by Manila, S., Recan, D., Sewry, C. A., Hoeltzenbein, M., Llense, S., Leturcq, F., Deburgrave, N., Barbot, J.-C., thi Man, Nguyen, Muntoni, F., Wehnert, M., Kaplan, J.-C., Morris, G. E.

“…Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had…”
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Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies by Chelly, J, Gilgenkrantz, H, Lambert, M, Hamard, G, Chafey, P, Récan, D, Katz, P, de la Chapelle, A, Koenig, M, Ginjaar, I B

“…Muscle dystrophin mRNAs from Duchenne (DMD) and Becker (BMD) patients with internal deletion of the DMD gene were quantitated and sequenced. In all cases…”
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Illegitimate transcription : application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients by CHELLY, J, GILGENKRANTZ, H, HUGNOT, J. P, HAMARD, G, LAMBERT, M, RECAN, D, AKLI, S, COMETTO, M, KAHN, A, KAPLAN, J. C

“…We have previously demonstrated that there is a low level of transcription of tissue-specific genes in every cell type. In this study, we have taken advantage…”
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Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin by MATSUMURA, K, TOME, F. M. S, CAMPBELL, K. P, IONASESCU, V, ERVASTI, J. M, ANDERSON, R. D, ROMERO, N. B, SIMON, D, RECAN, D, KAPLAN, J.-C, FARDEAU, M

“…Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a cytoskeletal protein tightly associated with a large oligomeric complex of…”
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Identification by STS PCR Screening of a Microdeletion in Xp21.3–22.1 Associated with Non-specific Mental Retardation by Billuart, P., Vinet, M. C., des Portes, V., Llense, S., Richard, L., Moutard, M. L., Recan, D., Brüls, T., Bienvenu, T., Kahn, A., Beldjord, C., Chelly, J.

“…X-linked non-specific mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation…”
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Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations by Plassart, E, Reboul, J, Rime, C S, Recan, D, Millasseau, P, Eymard, B, Pelletier, J, Thomas, C, Chapon, F, Desnuelle, C

“…Hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and PC with myotonia permanens are closely related muscle disorders of genetic origin…”
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Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization ? by RECAN, D, CHAFEY, P, FARDEAU, M, KAPLAN, J.-C, CHELLY, J, LETURCQ, F, HUGNOT, J.-P, VINCENT, N, TOME, F, COLLIN, H, SIMON, D, CZERNICHOW, P, NICHOLSON, L. V. B

“…It has been hypothesized that the tight localization of dystrophin at the muscle membrane is carried out by its cysteine-rich and/or carboxyl domains. We…”
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Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin by MATSUMURA, K, NONAKA, I, TOME, F. M. S, ARAHATA, K, COLLIN, H, LETURCQ, F, RECAN, D, KAPLAN, J.-C, FARDEAU, M, CAMPBELL, K. P

“…The dystrophin-glycoprotein complex spans the sarcolemma to provide a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix in skeletal…”
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A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD) by HUGNOT, J. P, RECAN, D, JEANPIERRE, M, KAPLAN, J. C, TOLUN, A

“…(DBO)…”
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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion by KOENIG, M, BEGGS, A. H, DE LA CHAPELLE, A, KIURU, A, SAVONTAUS, M.-L, GILGENKRANTZ, H, RECAN, D, CHELLY, J, KAPLAN, J.-C, COVONE, A. E, ARCHIDIACONO, N, ROMEO, G, MOYER, M, SCHERPF, S, HEINDRICH, K, BETTECKEN, T, MENG, G, MÜLLER, C. R, LINDÖF, M, KAARIAINEN, H

“…About 60% of both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is due to deletions of the dystrophin gene. For cases with a deletion…”
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Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies by Gilgenkrantz, H, Chelly, J, Lambert, M, Récan, D, Barbot, J C, van Ommen, G J, Kaplan, J C

“…In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45…”
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A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes by Walker, A P, Chelly, J, Love, D R, Brush, Y I, Récan, D, Chaussain, J L, Oley, C A, Connor, J M, Yates, J, Price, D A

“…The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal…”
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A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism by Tabarin, A, Achermann, J C, Recan, D, Bex, V, Bertagna, X, Christin-Maitre, S, Ito, M, Jameson, J L, Bouchard, P

“…Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). In affected boys, primary adrenal…”
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Symptomatic carriers of dystrophinopathy with chromosome X inactivation bias by Lesca, G, Demarquay, G, Llense, S, Streichenberger, N, Petiot, P, Michel-Calemard, L, Récan, D, Vial, C, Ollagnon-Roman, E

“…Several studies have recently highlighted the fact that the clinical involvement in females carrying a mutation in the dystrophin gene could be more frequent…”
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