Search Results - "Rouan, Fatima"

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome by Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura

“…Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss…”
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trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation by Rouan, F, White, T W, Brown, N, Taylor, A M, Lucke, T W, Paul, D L, Munro, C S, Uitto, J, Hodgins, M B, Richard, G

“…Dominant mutations of GJB2-encoding connexin-26 (Cx26) have pleiotropic effects, causing either hearing impairment (HI) alone or in association with…”
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Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations by Richard, Gabriele, Brown, Nkecha, Rouan, Fatima, Campanelli, Carmen, Uitto, Jouni, Van der Schroeff, Jan-Gerrit, Bijlsma, Emilia, Eichenfield, Lawrence F., Sybert, Virginia P., Greer, Kenneth E., Hogan, Peter, Compton, John G., Bale, Sherri J., DiGiovanna, John J.

“…Erythrokeratodermia variabilis is an autosomal dominant genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red…”
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Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy by Takahashi, Yoshie, Rouan, Fatima, Uitto, Jouni, Ishida-Yamamoto, Akemi, Iizuka, Hajime, Owaribe, Katsushi, Tanigawa, Mizuko, Ishii, Norito, Yasumoto, Shinichiro, Hashimoto, Takashi

“…Epidermolysis bullosa simplex associated with muscular dystrophy is caused by plectin deficiency. To report clinical, immunohistochemical, ultrastructural and…”
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Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy by Rouan, Fatima, Pulkkinen, Leena, LaForgia, Sal, Hyde, Patrice, Richard, Gabriele, Uitto, Jouni, Meneguzzi, Guerrino, Kim, Dae Un

“…Epidermolysis bullosa (EB) with late-onset muscular dystrophy (EB-MD) is a hemidesmosomal variant of EB due to mutations in the plectin gene (PLEC1). The age…”
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Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense by Pulkkinen, Leena, Rouan, Fatima, Bruckner-Tuderman, Leena, Wallerstein, Robert, Garzon, Maria, Brown, Tod, Smith, Lynne, Carter, William, Uitto, Jouni

“…Epidermolysis bullosa with pyloric atresia (EB-PA), an autosomal recessive genodermatosis, manifests with neonatal cutaneous blistering associated with…”
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Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy by SCHRÖDER, ROLF, KUNZ, WOLFRAM S, ROUAN, FATIMA, PFENDNER, ELLEN, TOLKSDORF, KAREN, KAPPES-HORN, KARIN, ALTENSCHMIDT-MEHRING, MANUELA, KNOBLICH, RUPERT, VAN DER VEN, PETER F.M, REIMANN, JENS, FÜRST, DIETER O, BLÜMCKE, INGMAR, VIELHABER, STEFAN, ZILLIKENS, DETLEF, EMING, SABINE, KLOCKGETHER, THOMAS, UITTO, JOUNI, WICHE, GERHARD, ROLFS, ARNDT

“…Mutations of the human plectin gene (Plec1) cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). Here, we report on…”
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A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency by Bauer, Johann W., Rouan, Fatima, Kofler, Barbara, Rezniczek, Günther A., Kornacker, Iris, Muss, Wolfgang, Hametner, Rudolf, Klausegger, Alfred, Huber, Ariana, Pohla-Gubo, Gabriele, Wiche, Gerhard, Uitto, Jouni, Hintner, Helmut

“…Plectin is a cytoskeleton linker protein expressed in a variety of tissues including skin, muscle, and nerves. Mutations in its gene are associated with…”
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Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation by SCHARA, Ulrike, TÜCKE, Jens, SCHRÖDER, Rolf, MORTIER, Wilhelm, NÜSSLEIN, Thomas, ROUAN, Fatima, PFENDNER, Ellen, ZILLIKENS, Detlef, BRUCKNER-TUDERMAN, Leena, UITTO, Jouni, WICHE, Gerhard

“…Epidermolysis bullosa simplex with muscular dystrophy (OMIM 226670) is an autosomal recessive disorder caused by mutations of the human plectin gene on…”
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Epidermolysis Bullosa Simplex Associated with Severe Mucous Membrane Involvement and Novel Mutations in the Plectin Gene by Kunz, Manfred, Hamm, Henning, Bröcker, Eva-Bettina, Zillikens, Detlef, Rouan, Fatima, Pulkkinen, Leena, Jeschke, Reinhard, Bruckner-Tuderman, Leena, Wiche, Gerhard, Uitto, Jouni

“…We report a novel case of epidermolysis bullosa simplex with severe mucous membrane involvement and mutations in the plectin gene (PLEC1). The patient suffered…”
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Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests by Takizawa, Yasuko, Shimizu, Hiroshi, Nishikawa, Takeji, Rouan, Fatima, Kawai, Mitsuru, Udono, Masako, Pulkkinen, Leena, Uitto, Jouni

“…Epidermolysis bullosa with muscular dystrophy (EB-MD) is a distinct variant of EB caused by mutations in the plectin gene (PLEC1). In this study, we have…”
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Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-lchthyosis-deafness syndrome by RICHARD, Gabriele, ROUAN, Fatima, RUSSELL, Laura, WILLOUGHBY, Colin E, BROWN, Nkecha, CHUNG, Pil, RYYNÄNEN, Markku, JABS, Ethylin Wang, BALE, Sherri J, DIGIOVANNA, John J, UITTO, Jouni

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Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa : Implications for genetic counseling by ROUAN, F, PULKKINEN, L, JONKMAN, M. F, BAUER, J. W, CSERHALMI-FRIEDMAN, P. B, CHRISTIANO, A. M, UITTO, J

“…The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen gene (COL7A1). In dominant DEB, a characteristic genetic…”
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Novel and recurrent glycine substitution mutations in COL7A1 in dystrophic epidermolysis bullosa: Genotype/phenotype correlations by Rouan, Fatima, Pulkkinen, Leena, Jonkman, Marcel F., Uitto, Jouni

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Newly synthesized tubulin is incorporated into long-lived particulates by Rouan, Fatima

“…Tubulin in nerve cells forms cold and calcium-stable particulates. To help determine the nature and the fate of newly synthesized tubulin we preformed pulse…”
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Novel andDe Novo Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling by Rouan, Fatima, Pulkkinen, Leena, Uitto, Jouni, Jonkman, Marcel F., Bauer, Johann W., Cserhalmi-Friedman, Peter B., Christiano, Angela M.

“…The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen gene (COL7A1). In dominant DEB, a characteristic genetic…”
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