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Forschungsdatenbank PMU-SQQUID

KLAUSEGGER ALFRED
Universitätsklinik für Dermatologie
Forschungsprogramm für Molekulare Therapie bei Genodermatosen

Publikationen | Forscherprofil

94 Publikationen

2022

Beiträge in Fachzeitschriften

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
Bischof, J; March, OP; Liemberger, B; Haas, SA; Hainzl, S; Petković, I; Leb-Reichl, V; Illmer, J; Korotchenko, E; Klausegger, A; Hoog, A; Binder, HM; Garcia, M; Duarte, B; Strunk, D; Larcher, F; Reichelt, J; Guttmann-Gruber, C; Wally, V; Hofbauer, JP; Bauer, JW; Cathomen, T; Kocher, T; Koller, U;
Mol Ther. 2022; 30(8): 2680-2692.
Originalarbeiten (Zeitschrift)
Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status.
Klausegger, A; Jeschko, N; Grammer, M; Cemper-Kiesslich, J; Neuhuber, F; Diem, A; Breitenbach-Koller, H; Sander, G; Kotzot, D; Bauer, JW; Laimer, M;
Diagnostics (Basel). 2022; 12(10):
Originalarbeiten (Zeitschrift)
5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa
Mayr, E; Ablinger, M; Lettner, T; Murauer, EM; Guttmann-Gruber, C; Piñón Hofbauer, J; Hainzl, S; Kaiser, M; Klausegger, A; Bauer, JW; Koller, U; Wally, V;
Int J Mol Sci. 2022; 23(3):
Originalarbeiten (Zeitschrift)
Phenotypic alleviation in LAMB3-mutated severe junctional epidermolysis bullosa.
Medek, K; Klausegger, A; Ude-Schoder, K; Prodinger, C; Breitenbach-Koller, H; Bauer, JW; Laimer, M;
J Eur Acad Dermatol Venereol. 2022; 36(8): e631-e634.
Letter
[Wound therapy with cold atmospheric plasma in severe recessive dystrophic epidermolysis bullosa : A pilot study].
Thiem, A; Has, C; Diem, A; Klausegger, A; Hamm, H; Emmert, S;
Hautarzt. 2022; 73(5):384-390
Fallberichte

2021

Beiträge in Fachzeitschriften

Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.
Ablinger, M; Lettner, T; Friedl, N; Potocki, H; Palmetzhofer, T; Koller, U; Illmer, J; Liemberger, B; Hainzl, S; Klausegger, A; Reisenberger, M; Lambert, J; Van Gele, M; Desmet, E; Van Maelsaeke, E; Wimmer, M; Zauner, R; Bauer, JW; Wally, V;
Int J Mol Sci. 2021; 22(7):
Originalarbeiten (Zeitschrift)
Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial.
Guttmann-Gruber, C; Hofbauer, JP; Tockner, B; Reichl, V; Klausegger, A; Hofbauer, P; Wolkersdorfer, M; Tham, KC; Lim, SS; Common, JE; Diem, A; Ude-Schoder, K; Hitzl, W; Lagler, F; Reichelt, J; Bauer, JW; Lang, R; Laimer, M
ORPHANET J RARE DIS. 2021; 16(1): 473
Originalarbeiten (Zeitschrift)
A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa
Kocher, T; Bischof, J; Haas, SA; March, OP; Liemberger, B; Hainzl, S; Illmer, J; Hoog, A; Muigg, K; Binder, HM; Klausegger, A; Strunk, D; Bauer, JW; Cathomen, T; Koller, U;
Mol Ther Nucleic Acids. 2021; 25: 237-250.
Originalarbeiten (Zeitschrift)
Molecular diagnostics and treatment of epidermolysis bullosa Multidisciplinary synchronized care in pediatric dermatology
Prodinger, C; Klausegger, A; Bauer, JW; Laimer, M
MONATSSCHR KINDERH. 2021;
Übersichtsarbeiten

2020

Beiträge in Fachzeitschriften

Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa.
Fuentes, I; Guttmann-Gruber, C; Tockner, B; Diem, A; Klausegger, A; Cofre-Araneda, G; Figuera, O; Hidalgo, Y; Morande, P; Palisson, F; Rebolledo-Jaramillo, B; Yubero, MJ; Cho, RJ; Rishel, HI; Marinkovich, MP; Teng, JMC; Webster, TG; Prisco, M; Eraso, LH; Hofbauer, JP; South, AP
SCI REP-UK. 2020; 10(1): 15064
Originalarbeiten (Zeitschrift)
Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa.
Kocher, T; March, OP; Bischof, J; Liemberger, B; Hainzl, S; Klausegger, A; Hoog, A; Strunk, D; Bauer, JW; Koller, U;
J Invest Dermatol. 2020; 140(10):1985-1993.e5
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

IMMUNE CELL PROFILING OF WOUNDS FROM EPIDERMOLYSIS BULLOSA PATIENTS
Fuentes, I; Guttmann-Gruber, C; Tockner, B; Diem, A; Klausegger, A; Cofre-Araneda, G; Figuera, O; Hidalgo, Y; Morande, P; Palisson, F; Rebolledo-Jaramillo, B; Yubero, MJ; Cho, RJ; Rishel, HI; Marinkovich, MP; Teng, J; Webster, TG; Prisco, M; Eraso, LH; Hofbauer, JP; South, AP
ACTA DERM-VENEREOL. 2020; 100: 46-46.
Abstracts (Zeitschrift)
RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA DUE TO ALMOST COMPLETE HEMIZYGOUS DELETION OF COL7A1 AND A MUTATION C.425A > G MIMICKING HOMOZYGOUS STATUS
Klausegger, A; Jeschko, N; Cemper-Kiesslich, J; Diem, A; Sander, G; Kotzot, D; Bauer, JW
ACTA DERM-VENEREOL. 2020; 100: 42-42.
Abstracts (Zeitschrift)

2019

Beiträge in Fachzeitschriften

Improved Double-Nicking Strategies for COL7A1-Editing by Homologous Recombination.
Kocher, T; Wagner, RN; Klausegger, A; Guttmann-Gruber, C; Hainzl, S; Bauer, JW; Reichelt, J; Koller, U;
Mol Ther Nucleic Acids. 2019; 18:496-507
Originalarbeiten (Zeitschrift)
Gene Editing-Mediated Disruption of Epidermolytic Ichthyosis-Associated KRT10 Alleles Restores Filament Stability in Keratinocytes.
March, OP; Lettner, T; Klausegger, A; Ablinger, M; Kocher, T; Hainzl, S; Peking, P; Lackner, N; Rajan, N; Hofbauer, JP; Guttmann-Gruber, C; Bygum, A; Koller, U; Reichelt, J;
J Invest Dermatol. 2019; 139(8): 1699-1710.e6.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

A selection-free COL7A1 repair strategy based on homologous recombination
Kocher, T; Wagner, RN; Cathomen, T; Haas, S; Klausegger, A; Bauer, JW; Reichelt, J; Koller, U
HUM GENE THER. 2019; 30(11): A177-A177.
Abstracts (Zeitschrift)
Gene editing as a therapeutic option for epidermolytic ichthyosis
March, OP; Lettner, T; Klausegger, A; Ablinger, M; Kocher, T; Hainzl, S; Peking, P; Lackner, N; Aushev, M; Koller, U; Reichelt, J
EXP DERMATOL. 2019; 28(3): E45-E45.
Abstracts (Zeitschrift)

2018

Beiträge in Fachzeitschriften

Low-dose calcipotriol can elicit wound closure, anti-microbial, and anti-neoplastic effects in epidermolysis bullosa keratinocytes.
Guttmann-Gruber, C; Tockner, B; Scharler, C; Hüttner, C; Common, JE; Tay, ASL; Denil, SLIJ; Klausegger, A; Trost, A; Breitenbach, J; Schnitzhofer, P; Hofbauer, P; Wolkersdorfer, M; Diem, A; Laimer, M; Strunk, D; Bauer, JW; Reichelt, J; Lang, R; Piñón Hofbauer, J;
Sci Rep. 2018; 8(1): 13430
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

A minicircle-based screening system facilitates the selection of promising CRISPR/Cas9 double nicking pairs for homology-directed repair of genetic mutations
Kocher, T; Wagner, R; Klausegger, A; Bauer, JW; Reichelt, J; Koller, U
HUM GENE THER. 2018; 29(12): A105-A105.
Abstracts (Zeitschrift)
TALEN-mediated inactivation of dominant-negative keratin alleles for general phenotypic alleviation of epidermolytic ichthyosis
March, OP; Kocher, T; Lackner, N; Hainzl, S; Lettner, T; Ablinger, M; Klausegger, A; Koller, U; Reichelt, J
HUM GENE THER. 2018; 29(12): A114-A114.
Abstracts (Zeitschrift)

2017

Beiträge in Fachzeitschriften

Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance
Fuentes, I; Campos, M; Repetto, G; Morande, P; Yubero, MJ; Gonzalez, S; Klausegger, A; Schnitzhofer, P; Pohla-Gubo, G; Bauer, J; Palisson, F
BRIT J DERMATOL. 2017; 176(4): 1090-1092.
Letter
COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.
Hainzl, S; Peking, P; Kocher, T; Murauer, EM; Larcher, F; Del Rio, M; Duarte, B; Steiner, M; Klausegger, A; Bauer, JW; Reichelt, J; Koller, U;
Mol Ther. 2017; 25(11):2573-2584
Originalarbeiten (Zeitschrift)
Regeneration of the entire human epidermis using transgenic stem cells.
Hirsch, T; Rothoeft, T; Teig, N; Bauer, JW; Pellegrini, G; De Rosa, L; Scaglione, D; Reichelt, J; Klausegger, A; Kneisz, D; Romano, O; Secone Seconetti, A; Contin, R; Enzo, E; Jurman, I; Carulli, S; Jacobsen, F; Luecke, T; Lehnhardt, M; Fischer, M; Kueckelhaus, M; Quaglino, D; Morgante, M; Bicciato, S; Bondanza, S; De Luca, M;
NATURE. 2017; 551(7680): 327-332.
Originalarbeiten (Zeitschrift)
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
Hung, CY; Volkmar, B; Baker, JD; Bauer, JW; Gussoni, E; Hainzl, S; Klausegger, A; Lorenzo, J; Mihalek, I; Rittinger, O; Tekin, M; Dallman, JE; Bodamer, OA
PLOS ONE. 2017; 12(12): e0189324
Originalarbeiten (Zeitschrift)
Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases.
Kocher, T; Peking, P; Klausegger, A; Murauer, EM; Hofbauer, JP; Wally, V; Lettner, T; Hainzl, S; Ablinger, M; Bauer, JW; Reichelt, J; Koller, U;
Mol Ther. 2017; 25(11):2585-2598
Originalarbeiten (Zeitschrift)
Laryngo-onycho-cutaneous (-like) syndrome due to mutated Plectin.
Prodinger, C; Klausegger, A; Diem, A; Bauer, JW; Laimer, M;
J Eur Acad Dermatol Venereol. 2017; 31(8):-e374
Letter

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Highly efficient and safe CRISPR/Cas9n double nicking-mediated KRT14 repair in epidermolysis bullosa simplex keratinocytes
Kocher, T; Peking, P; Klausegger, A; Murauer, EM; Hofbauer, JP; Wally, V; Lettner, T; Hainzl, S; Ablinger, M; Bauer, JW; Reichelt, J; Koller, U
HUM GENE THER. 2017; 28(12): A57-A57.
Abstracts (Zeitschrift)
Improved safety profile: An efficient CRISPR/Cas9 double nicking approach for KRT14 repair in EB simplex
Kocher, T; Peking, P; Klausegger, A; Murauer, EM; Hofbauer, JP; Wally, V; Lettner, T; Hainzl, S; Ablinger, M; Bauer, JW; Reichelt, J; Koller, U
J INVEST DERMATOL. 2017; 137(10): S225-S225.
Abstracts (Zeitschrift)

2016

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Calcipotriol treatment increases low levels of cathelicidin expression and enhances anti-microbial activity of recessive dystrophic epidermolysis bullosa keratinocytes
Gruber, C; Hofbauer, JP; Tockner, B; Huttner, C; Breitenbach, JS; Trost, A; Leb-Reichl, VM; Klausegger, A; Hainzl, S; Reichelt, J; Bauer, JW; Lang, R
EXP DERMATOL. 2016; 25(3): E12-E12.
Abstracts (Zeitschrift)

2015

Beiträge in Fachzeitschriften

Pseudosyndactyly - an inflammatory and fibrotic wound healing disorder in recessive dystrophic epidermolysis bullosa.
Boltzmann, L; Gruber, C; Klausegger, A; Trost, A; Bogner, B; Reitsamer, H; Bauer, JW;
J Dtsch Dermatol Ges. 2015; 13(12): 1257-1266.
Originalarbeiten (Zeitschrift)
Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.
Breitenbach, JS; Rinnerthaler, M; Trost, A; Weber, M; Klausegger, A; Gruber, C; Bruckner, D; Reitsamer, HA; Bauer, JW; Breitenbach, M;
Aging (Albany NY). 2015; 7(6):389-411
Originalarbeiten (Zeitschrift)
Trans-splicing improvement by the combined application of antisense strategies.
Koller, U; Hainzl, S; Kocher, T; Hüttner, C; Klausegger, A; Gruber, C; Mayr, E; Wally, V; Bauer, JW; Murauer, EM;
Int J Mol Sci. 2015; 16(1):117-191
Originalarbeiten (Zeitschrift)

2014

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Selection of antisense oligonucleotides for trans-splicing enhancement using a fluorescence-based screening system
Koller, U; Hainzl, S; Huttner, C; Kocher, T; Klausegger, A; Murauer, EM; Gruber, C; Mayr, E; Wally, V; Bauer, JW
J INVEST DERMATOL. 2014; 134: S61-S61.
Abstracts (Zeitschrift)

2013

Beiträge in Fachzeitschriften

Specialized yeast ribosomes: a customized tool for selective mRNA translation.
Bauer, JW; Brandl, C; Haubenreisser, O; Wimmer, B; Weber, M; Karl, T; Klausegger, A; Breitenbach, M; Hintner, H; von der Haar, T; Tuite, MF; Breitenbach-Koller, L;
PLoS One. 2013; 8(7): e67609
Originalarbeiten (Zeitschrift)
[Darier disease].
Klausegger, A; Laimer, M; Bauer, JW
HAUTARZT. 2013; 64(1): 22-25.
Originalarbeiten (Zeitschrift)
MMP-9 and CXCL8/IL-8 Are Potential Therapeutic Targets in Epidermolysis Bullosa Simplex.
Lettner, T; Lang, R; Klausegger, A; Hainzl, S; Bauer, JW; Wally, V;
PLoS One. 2013; 8(7):e70123
Originalarbeiten (Zeitschrift)

2012

Beiträge in Fachzeitschriften

Successful allogeneic cord blood transplantation in a patient with Evans syndrome leads to correction of hereditary angioedema type I as secondary effect.
Klausegger, A; Wiednig, M; Urban, C; Lackner, H; Reiter, H; Bauer, JW; Aberer, W;
BONE MARROW TRANSPL. 2012; 47(9): 1259-1261.
Letter
Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.
Shaiq, PA; Klausegger, A; Bauer, JW; Azam, M; Raja, GK; Qamar, R;
J Dermatol. 2012; 39(5): 472-474.
Letter
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan.
Shaiq, PA; Klausegger, A; Muzaffar, F; Bauer, JW; Khan, MI; Khanum, A; Qamar, R; Raja, GK;
J Dermatol. 2012; 39(7): 640-641.
Letter
Novel and recurrent COL7A1 mutation in a Polish population
Wertheim-Tysarowska, K; Sobczynska-Tomaszewska, A; Kowalewski, C; Kutkowska-Kazmierczak, A; Wozniak, K; Niepokoj, K; Klausegger, A; Sypniewska-Jutkiewicz, J; Stepien, A; Bal, J
EUR J DERMATOL. 2012; 22(1): 23-28.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Double RNA trans-splicing induced gene correction in epidermolysis bullosa
Koller, U; Hainzl, S; Klausegger, A; Wally, V; Murauer, EM; Mayr, E; Gruber, C; Mitchell, L; Hintner, H; Bauer, JW
J INVEST DERMATOL. 2012; 132: S93-S93.
Abstracts (Zeitschrift)
IL-1beta as a therapeutic target in Epidermolysis bullosa simplex
Wally, V; Lettner, T; Klausegger, A; Hainzl, S; Hintner, H; Bauer, JW
J INVEST DERMATOL. 2012; 132: S50-S50.
Abstracts (Zeitschrift)
Targeting IL-1 beta for the treatment of EBS-DM
Wally, V; Lettner, T; Peckl-Schmid, D; Klausegger, A; Hainzl, S; Hintner, H; Bauer, JW
EXP DERMATOL. 2012; 21(3): e6-e6.
Abstracts (Zeitschrift)

2011

Beiträge in Fachzeitschriften

Seven novel mutations in the ATP2A2 gene of Austrian patients with Darierxxxs disease
Klausegger, A; Nischler, E; Wagner, RN; Pletschacher, F; Hintner, H; Bauer, JW
ARCH DERMATOL RES. 2011; 303(5): 371-374.
Originalarbeiten (Zeitschrift)
A novel screening system improves genetic correction by internal exon replacement.
Koller, U; Wally, V; Mitchell, LG; Klausegger, A; Murauer, EM; Mayr, E; Gruber, C; Hainzl, S; Hintner, H; Bauer, JW;
Nucleic Acids Res. 2011; 39(16): e108
Originalarbeiten (Zeitschrift)
Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa.
Murauer, EM; Gache, Y; Gratz, IK; Klausegger, A; Muss, W; Gruber, C; Meneguzzi, G; Hintner, H; Bauer, JW;
J Invest Dermatol. 2011; 131(1):74-83
Originalarbeiten (Zeitschrift)
The International Dystrophic Epidermolysis Bullosa Patient Registry: An Online Database of Dystrophic Epidermolysis Bullosa Patients and Their COL7A1 Mutations
van den Akker, PC; Jonkman, MF; Rengaw, T; Bruckner-Tuderman, L; Has, C; Bauer, JW; Klausegger, A; Zambruno, G; Castiglia, D; Mellerio, JE; McGrath, JA; van Essen, AJ; Hofstra, RMW; Swertz, MA
HUM MUTAT. 2011; 32(10): 1100-1107.
Originalarbeiten (Zeitschrift)
Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Yiu, EM; Klausegger, A; Waddell, LB; Grasern, N; Lloyd, L; Tran, K; North, KN; Bauer, JW; McKelvie, P; Chow, CW; Ryan, MM; Murrell, DF;
MUSCLE NERVE. 2011; 44(1): 135-141.
Fallberichte

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Screening for high efficient double RNA trans-splicing molecules to exchange a single exon of the COL17A1 gene
Koller, U; Wally, V; Mitchell, LG; Klausegger, A; Murauer, EM; Mayr, E; Gruber, C; Hainzl, S; Hintner, H; Bauer, JW
J INVEST DERMATOL. 2011; 131: S67-S67.
Abstracts (Zeitschrift)
A new 3 xxx trans-splicing repair strategy for the COL17A1 gene
Schlager, P; Klausegger, A; Murauer, EM; Tockner, B; Hintner, H; Bauer, JW
EXP DERMATOL. 2011; 20(2): 173-173.
Abstracts (Zeitschrift)
Optimization of 3 xxx trans-splicing in the type VII Collagen gene
Tockner, B; Murauer, EM; Gruber, C; Mayr, E; Schlager, P; Wally, V; Koller, U; Klausegger, A; Hintner, H; Bauer, JW
HUM GENE THER. 2011; 22(10): A53-A53.
Abstracts (Zeitschrift)

2010

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Improvement of RNA trans-splicing based gene correction using a RTM screening system
Koller, U; Wally, V; Mitchell, LG; Klausegger, A; Murauer, EM; Mayr, E; Gruber, C; Hintner, H; Bauer, JW
HUM GENE THER. 2010; 21(10): 1451-1451.
Abstracts (Zeitschrift)

2009

Beiträge in Fachzeitschriften

[Hereditary blistering diseases. Symptoms, diagnosis and treatment of epidermolysis bullosa].
Laimer, M; Lanschützer, CM; Nischler, E; Klausegger, A; Diem, A; Pohla-Gubo, G; Bauer, JW; Hintner, H;
HAUTARZT. 2009; 60(5): 378-388.
Übersichtsarbeiten
Diagnostic pitfalls in newborns and babies with blisters and erosions.
Nischler, E; Klausegger, A; Hüttner, C; Pohla-Gubo, G; Diem, A; Bauer, JW; Hintner, H;
Dermatol Res Pract. 2009; 2009: 320403
Fallberichte
A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.
Riedl, E; Klausegger, A; Bauer, JW; Foedinger, D; Kittler, H;
PEDIATR DERMATOL. 2009; 26(1): 115-117.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

High throughput screening for functional RNA trans-splicing repair molecules (RTMs) for the correction of the gene PLEC1
Koller, U; Wally, V; Mitchell, L; Klausegger, A; Muraurer, E; Mayr, E; Brunner, M; Hintner, H; Bauer, J
HUM GENE THER. 2009; 20(11): 1530-1531.
Abstracts (Zeitschrift)
Using RNA Trans-splicing to correct mutations in the plectin gene
Koller, U; Wally, V; Mitchell, LG; Klausegger, A; Murauer, EM; Mayr, E; Hintner, H; Bauer, JW
EXP DERMATOL. 2009; 18(3): 283-283.
Abstracts (Zeitschrift)
5# Trans-splicing in the type vii collagen gene-development of a mRNA based gene therapy approach for dystrophic epidermolysis bullosa
Mayr, E; Koller, U; Murauer, EM; Wally, V; Klausegger, A; Hintner, H; Bauer, JW
EXP DERMATOL. 2009; 18(3): 284-284.
Abstracts (Zeitschrift)
5 xxx trans-splicing in the Type VII Collagen Gene - Development of a mRNA based Gene Therapy Approach for Dystrophic Epidermolysis bullosa
Mayr, E; Koller, U; Murauer, EM; Wally, V; Klausegger, A; Hintner, H; Bauer, JW
J INVEST DERMATOL. 2009; 129: S46-S46.
Abstracts (Zeitschrift)
In vitro Correction of COL7A1 Gene Mutations using RNA Trans-splicing
Murauer, EM; Gache, Y; Gratz, IK; Klausegger, A; Muss, W; Gruber, C; Meneguzzi, G; Hintner, H; Bauer, JW
J INVEST DERMATOL. 2009; 129: S45-S45.
Abstracts (Zeitschrift)
3 xxx Trans-splicing as a tool for gene therapy in dystrophic epidermolysis bullosa
Murauer, EM; Gache, Y; Klausegger, A; Wally, V; Koller, U; Mayr, E; Meneguzzi, G; Bauer, JW
EXP DERMATOL. 2009; 18(3): 283-283.
Abstracts (Zeitschrift)
Gene therapy for autosomal dominant diseases
Wally, V; Koller, U; Murauer, EM; Mayr, E; Klausegger, A; Hintner, H; Bauer, JW
EXP DERMATOL. 2009; 18(3): 283-283.
Abstracts (Zeitschrift)

Monographien (Bücher mit wissenschaftlichem Inhalt)

Life with Epidermolysis bullosa.
Lanschuetzer, C; Fine, JD; Laimer, M; Nischler, E; Bauer, JW; Klausegger, A; Pohla-Gubo, G; Hintner, H; Diem, A;
2009.

2008

Beiträge in Fachzeitschriften

5" trans-splicing repair of the PLEC1 gene.
Wally, V; Klausegger, A; Koller, U; Lochmüller, H; Krause, S; Wiche, G; Mitchell, LG; Hintner, H; Bauer, JW;
J INVEST DERMATOL. 2008; 128(3): 568-574.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

3xxx trans-splicing repair of the COL7A1 gene in epidermolysis bullosa dystrophica patients
Murauer, EM; Klausegger, A; Mitchell, LG; Bauer, JW
HUM GENE THER. 2008; 19(10): 1131-1131.
Abstracts (Zeitschrift)

Beiträge in Sonstigen Zeitschriften

Epidermolysis bullosa hereditaria.
Laimer, M; Lanschützer, CM; Nischler, E; Klausegger, A; Diem, A; Pohla-Gubo, G; Bauer, JW, Hintner, H
Monatsschrift Kinderheilkunde. 2008. 156: 110-121.

2006

Beiträge in Fachzeitschriften

Skin grafting as a therapeutic approach in pretibially restricted junctional epidermolysis bullosa.
Laimer, M; Bauer, JW; Klausegger, A; Koller, J; Pohla-Gubo, G; Muss, W; Sadler, E; Emberger, M; Lanschuetzer, CM; Hametner, R; Wally, V; Oender, K; Hinter, H;
BRIT J DERMATOL. 2006; 154(1): 185-187.
Fallberichte
Haploinsufficiency due to deletion within the 3"-UTR of C1-INH-gene associated with hereditary angioedema.
Laimer, M; Klausegger, A; Aberer, W; Oender, K; Steinhuber, M; Lanschuetzer, CM; Wally, V; Hintner, H; Bauer, JW;
GENET MED. 2006; 8(4): 249-254.
Originalarbeiten (Zeitschrift)
Introducing a fast and simple PCR-RFLP analysis for the detection of mutant thiopurine S-methyltransferase alleles TPMT*3A and TPMT*3C.
Oender, K; Lanschuetzer, CM; Laimer, M; Klausegger, A; Paulweber, B; Kofler, B; Hintner, H; Bauer, JW;
J EUR ACAD DERMATOL. 2006; 20(4): 396-400.
Originalarbeiten (Zeitschrift)
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
Sadler, E; Klausegger, A; Muss, W; Deinsberger, U; Pohla-Gubo, G; Laimer, M; Lanschuetzer, C; Bauer, JW; Hintner, H;
Arch Dermatol. 2006; 142(12): 1619-1624.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Spliceosome mediated RNA trans-splicing (SMaRT) is a novel method to treat autosomal dominant diseases
Wally, V; Klausegger, A; Koller, U; Lochmuller, H; Krause, S; Wiche, G; Mitchell, LG; Hintner, H; Bauer, JW
J INVEST DERMATOL. 2006; 126: 32-32.
Abstracts (Zeitschrift)

2005

Beiträge in Fachzeitschriften

[Dental alterations in junctional epidermolysis bullosa--report of a patient with a mutation in the LAMB3-gene].
Sadler, E; Laimer, M; Diem, A; Klausegger, A; Pohla-Gubo, G; Muss, W; Hachleitner, J; Stadlhuber, R; Bauer, JW; Hintner, H;
J Dtsch Dermatol Ges. 2005; 3(5): 359-363.
Fallberichte

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Regional microsatellite instability is implicated in human leukocyte antigen class I molecule expression during melanoma progression
Lang, R; Klausegger, A; Bauer, JW; Dietze, O; Hintner, H; Koller, J
J INVEST DERMATOL. 2005; 124(4): A142-A142.
Abstracts (Zeitschrift)
5 xxx spliceosome-mediated RNA trans-splicing gene-therapy in epidermolysis buillosa
Wally, V; Klausegger, A; Krause, S; Lochmueller, H; Mitchell, L; Hintner, H; Bauer, J
J INVEST DERMATOL. 2005; 124(4): A80-A80.
Abstracts (Zeitschrift)

2004

Beiträge in Fachzeitschriften

Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay.
Buchroithner, B; Klausegger, A; Ebschner, U; Anton-Lamprecht, I; Pohla-Gubo, G; Lanschuetzer, CM; Laimer, M; Hintner, H; Bauer, JW;
LAB INVEST. 2004; 84(10): 1279-1288.
Originalarbeiten (Zeitschrift)
Expression of neuropeptide galanin and galanin receptors in human skin
Kofler, B; Berger, A; Santic, R; Moritz, K; Almer, D; Tuechler, C; Lang, R; Emberger, M; Klausegger, A; Sperl, W; Bauer, JW
J INVEST DERMATOL. 2004; 122(4): 1050-1053.
Letter
Gene symbol: KRT14. Disease: epidermolysis bullosa simplex, Koebner.
Lanschuetzer, CM; Klausegger, A; Pohla-Gubo, G; Hametner, R; Richard, G; Uitto, J; Hintner, H; Bauer, JW;
Hum Genet. 2004; 115(2):171
Abstracts (Zeitschrift)
Gene symbol: Kind1. Disease: kindler syndrome.
Lanschuetzer, CM; Muss, WH; Emberger, M; Pohla-Gubo, G; Klausegger, A; Bauer, JW; Hintner, H;
Hum Genet. 2004; 115(2): 175
Abstracts (Zeitschrift)
Identification of vitamin D target genes in human keratinocytes by subtractive screening.
Moll, PR; Klausegger, A; Hintner, H; Reischl, W; Breitenbach, M; Richter, K;
J STEROID BIOCHEM. 2004; 89-90(1-5): 261-267.
Originalarbeiten (Zeitschrift)

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Trans-splicing in GABEB keratinocytes
Klausegger, A; Mitchell, L; Hintner, H; Bauer, J
J INVEST DERMATOL. 2004; 123(2):
Abstracts (Zeitschrift)
Hereditary angioedema in consequence of a 150 bp deletion in the 3 xxx UTR of C1-inhibitor gene
Laimer, M; Klausegger, A; Aberer, W; Wally, V; Lanschuetzer, CM; Hintner, H; Bauer, JW
J INVEST DERMATOL. 2004; 123(2):
Abstracts (Zeitschrift)
Acatalasemia: identification and characterization of a novel missense mutation
Wally, V; Buchroithner, B; Klausegger, A; Laimer, M; Hintner, H; Bauer, JW
J INVEST DERMATOL. 2004; 122(3): A85-A85.
Abstracts (Zeitschrift)

2003

Beiträge in Fachzeitschriften

Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases.
Dallinger, G; Puttaraju, M; Mitchell, LG; Yancey, KB; Yee, C; Klausegger, A; Hintner, H; Bauer, JW;
EXP DERMATOL. 2003; 12(1): 37-46.
Originalarbeiten (Zeitschrift)
Das Epidermolysis-bullosa-Haus Salzburg. Der multidisziplinäre Zugang zu einer seltenen Erkrankung
Laimer, M; Lanschuetzer, CM; Pohla-Gubo, G; Klausegger, A; Diem, A; Bauer, JW; Hintner, H;
Pädiatrie und Pädologie. 2003; 6: 30-38.
Übersichtsarbeiten
Pathogenic mechanisms in epidermolysis bullosa naevi.
Lanschuetzer, CM; Emberger, M; Hametner, R; Klausegger, A; Pohla-Gubo, G; Hintner, H; Bauer, JW;
ACTA DERM-VENEREOL. 2003; 83(5): 332-337.
Fallberichte
A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner.
Lanschuetzer, CM; Klausegger, A; Pohla-Gubo, G; Hametner, R; Richard, G; Uitto, J; Hintner, H; Bauer, JW;
CLIN EXP DERMATOL. 2003; 28(1): 77-79.
Fallberichte
Characteristic immunohistochemical and ultrastructural findings indicate that Kindler"s syndrome is an apoptotic skin disorder.
Lanschuetzer, CM; Muss, WH; Emberger, M; Pohla-Gubo, G; Klausegger, A; Bauer, JW; Hintner, H;
J CUTAN PATHOL. 2003; 30(9): 553-560.
Fallberichte

2001

Beiträge in Fachzeitschriften

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.
Bauer, JW; Rouan, F; Kofler, B; Rezniczek, GA; Kornacker, I; Muss, W; Hametner, R; Klausegger, A; Huber, A; Pohla-Gubo, G; Wiche, G; Uitto, J; Hintner, H;
Am J Pathol. 2001; 158(2): 617-625.
Originalarbeiten (Zeitschrift)
Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?
Klausegger, A; Pulkkinen, L; Pohla-Gubo, G; Dallinger, G; Puttinger, R; Uitto, J; Hintner, H; Bauer, JW;
J Invest Dermatol. 2001; 116(3): 474-475.
Letter

Publizierte (zitierfähige) Beiträge für wissenschaftliche Veranstaltungen

Up-regulation of galanin gene expression by heat treatment in human keratinocytes
Bauer, J; Almer, D; Kofler, B; Klausegger, A; Sperl, W
J INVEST DERMATOL. 2001; 117(2): 527-527.
Abstracts (Zeitschrift)

1999

Beiträge in Fachzeitschriften

Gram type-specific broad-range PCR amplification for rapid detection of 62 pathogenic bacteria (vol 37, pg 464, 1999)
Klausegger, A; Hell, M; Berger, A; Zinober, K; Baier, S; Jones, N; Sperl, W; Kofler, B
J CLIN MICROBIOL. 1999; 37(5): 1660-1660.
Abstracts (Zeitschrift)
Gram type-specific broad-range PCR amplification for rapid detection of 62 pathogenic bacteria.
Klausegger, A; Hell, M; Berger, A; Zinober, K; Baier, S; Jones, N; Sperl, W; Kofler, B;
J CLIN MICROBIOL. 1999; 37(2): 464-466.
Originalarbeiten (Zeitschrift)
Identification of a coronavirus hemagglutinin-esterase with a substrate specificity different from those of influenza C virus and bovine coronavirus.
Klausegger, A; Strobl, B; Regl, G; Kaser, A; Luytjes, W; Vlasak, R;
J Virol. 1999; 73(5): 3737-3743.
Originalarbeiten (Zeitschrift)
Simplified PCR set-up using a frozen preformulated mix for the detection of cytomegalovirus.
Kofler, B; Klausegger, A;
Diagn Microbiol Infect Dis. 1999; 34(1): 33-35.
Originalarbeiten (Zeitschrift)