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Fatima Rouan

Research Profile

Chemicals & Drugs

Disorders

Anatomy

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Physiology

Living Beings

Heterozygote

Genes & Molecular Sequences

Dominant Genes

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Publications

TOP 3
James R McMillan; Masashi Akiyama; Fatima Rouan; Jemima E Mellerio; E Birgitte Lane; I M Leigh; Katsushi Owaribe; Gerhard Wiche; N Fujii; Jouni Uitto; Robin A J Eady; Hiroshi Shimizu
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
Ellen Pfendner; Fatima Rouan; Jouni Uitto
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Yoshie Takahashi; Fatima Rouan; Jouni Uitto; Akemi Ishida-Yamamoto; Hajime Iizuka; Katsushi Owaribe; Mizuko Tanigawa; Norito Ishii; Shinichiro Yasumoto; Takashi Hashimoto
Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.

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All Publications

2007: James R McMillan; Masashi Akiyama; Fatima Rouan; Jemima E Mellerio; E Birgitte Lane; I M Leigh; Katsushi Owaribe; Gerhard Wiche; N Fujii; Jouni Uitto; Robin A J Eady; Hiroshi Shimizu
Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
Muscle & nerve 2007;35(1):24-35.
2005: Ellen Pfendner; Fatima Rouan; Jouni Uitto
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Experimental dermatology 2005;14(4):241-9.
2005: Yoshie Takahashi; Fatima Rouan; Jouni Uitto; Akemi Ishida-Yamamoto; Hajime Iizuka; Katsushi Owaribe; Mizuko Tanigawa; Norito Ishii; Shinichiro Yasumoto; Takashi Hashimoto
Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.
Journal of dermatological science 2005;37(2):87-93.
2004: Ulrike Schara; Jens Tücke; Wilhelm Mortier; Thomas Nüsslein; Fatima Rouan; Ellen Pfendner; Detlef Zillikens; Leena Bruckner-Tuderman; Jouni Uitto; Gerhard Wiche; Rolf Schröder
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
European journal of pediatrics 2004;163(4-5):218-22.
2003: Fatima Rouan; C W Lo; Andrzej Fertala; M Wahl; M Jost; Ulrich Rodeck; Jouni Uitto; Gabriele Richard
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
Experimental dermatology 2003;12(2):191-7.
2003: Gabriele Richard; Nkecha Brown; Fatima Rouan; Jan-Gerrit Van der Schroeff; Emilia Bijlsma; Lawrence F Eichenfield; Virginia P Sybert; Kenneth E Greer; Peter Hogan; Carmen Campanelli; John G Compton; Sherri J Bale; John J DiGiovanna; Jouni Uitto
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
The Journal of investigative dermatology 2003;120(4):601-9.
2002: Rolf Schröder; Wolfram S Kunz; Fatima Rouan; Ellen Pfendner; Karen Tolksdorf; Karin Kappes-Horn; Manuela Altenschmidt-Mehring; Rupert Knoblich; Peter F.M. van der Ven; Jens Reimann; Dieter O Fürst; Ingmar Blümcke; Stefan Vielhaber; Detlef Zillikens; Sabine A Eming; Thomas Klockgether; Jouni Uitto; Gerhard Wiche; Arndt Rolfs
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
Journal of neuropathology and experimental neurology 2002;61(6):520-30.
2002: Gabriele Richard; Fatima Rouan; Colin Willoughby; Nkecha Brown; Pil Chung; Markku Ryynänen; Ethylin Jabs; Sherri J Bale; John J DiGiovanna; Jouni Uitto; Laura Russell
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
American journal of human genetics 2002;70(5):1341-8.
2001: Fatima Rouan; Thomas W White; Nkecha Brown; A M Taylor; Tom W Lucke; David L Paul; Colin S Munro; Jouni Uitto; M B Hodgins; Gabriele Richard
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Journal of cell science 2001;114(Pt 11):2105-13.
2001: Johann W Bauer; Fatima Rouan; Barbara Kofler; Günther A Rezniczek; I Kornacker; Wolfgang H. MUSS; Rudolf Hametner; Alfred Klausegger; A Huber; Gabriele Pohla-Gubo; Gerhard Wiche; Jouni Uitto; Helmut Hintner
A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.
The American journal of pathology 2001;158(2):617-25.
2000: Fatima Rouan; Leena Pulkkinen; Guerrino Meneguzzi; S LaForgia; Patricia H Hyde; D U Kim; Gabriele Richard; Jouni Uitto
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
The Journal of investigative dermatology 2000;114(2):381-7.
2000: M Kunz; Fatima Rouan; Leena Pulkkinen; H Hamm; Reinhart Jeschke; Leena Bruckner-Tuderman; Eva-B Bröcker; Gerhard Wiche; Jouni Uitto; Detlef Zillikens
Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene.
The Journal of investigative dermatology 2000;114(2):376-80.
1999: Marcel F Jonkman; G Moreno; Fatima Rouan; A P Oranje; Leena Pulkkinen; Jouni Uitto
Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
The Journal of investigative dermatology 1999;112(5):815-7.
1999: Yasuko Takizawa; Hiroshi Shimizu; Fatima Rouan; M Kawai; M Udono; L Pulkkinen; Takeji Nishikawa; Jouni Uitto
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests.
The Journal of investigative dermatology 1999;112(1):109-12.
1998: Fatima Rouan; Leena Pulkkinen; Marcel F Jonkman; Johann W Bauer; P B Cserhalmi-Friedman; Angela M Christiano; Jouni Uitto
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
The Journal of investigative dermatology 1998;111(6):1210-3.
1998: Leena Pulkkinen; Fatima Rouan; Leena Bruckner-Tuderman; R Wallerstein; Maria C Garzon; T Brown; L Smith; W Carter; Jouni Uitto
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
American journal of human genetics 1998;63(5):1376-87.