Literature DB >> 24005056

Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.

Manuela Pigors1, Agnes Schwieger-Briel1, Juna Leppert1, Dimitra Kiritsi1, Jürgen Kohlhase2, Leena Bruckner-Tuderman3, Cristina Has4.   

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Year:  2013        PMID： 24005056     DOI： 10.1038/jid.2013.373

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  12 in total

Review 1.  Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa.

Authors:  Leena Bruckner-Tuderman; Cristina Has
Journal:  J Invest Dermatol       Date:  2012-11-15       Impact factor: 8.551

2.  Epidermolysis bullosa simplex ogna revisited.

Authors:  Dimitra Kiritsi; Manuela Pigors; Iliana Tantcheva-Poor; Cordula Wessel; Meral Julia Arin; Jürgen Kohlhase; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Invest Dermatol       Date:  2012-08-02       Impact factor: 8.551

3.  Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes.

Authors:  Corinna Herz; Monique Aumailley; Carsten Schulte; Ursula Schlötzer-Schrehardt; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Biol Chem       Date:  2006-10-01       Impact factor: 5.157

4.  TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

Authors:  Manuela Pigors; Dimitra Kiritsi; Cristina Cobzaru; Agnes Schwieger-Briel; Jose Suárez; Flavio Faletra; Heikki Aho; Leeni Mäkelä; Johannes S Kern; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Invest Dermatol       Date:  2012-05-24       Impact factor: 8.551

5.  Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Authors:  M C Bolling; H H Lemmink; G H L Jansen; M F Jonkman
Journal:  Br J Dermatol       Date:  2011-02-17       Impact factor: 9.302

6.  Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

Authors:  Elizabeth L Rugg; Helen M Horn; Frances J Smith; Neil J Wilson; Alison J M Hill; Gareth J Magee; Carrie S Shemanko; David U Baty; Michael J Tidman; E Birgitte Lane
Journal:  J Invest Dermatol       Date:  2006-10-12       Impact factor: 8.551

7.  Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.

Authors:  Manuela Pigors; Dimitra Kiritsi; Sebastian Krümpelmann; Nicola Wagner; Yinghong He; Maurizio Podda; Jürgen Kohlhase; Ingrid Hausser; Leena Bruckner-Tuderman; Cristina Has
Journal:  Hum Mol Genet       Date:  2011-02-14       Impact factor: 6.150

8.  A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

Authors:  Richard W Groves; Lu Liu; Patricia J Dopping-Hepenstal; Hugh S Markus; Patricia A Lovell; Linda Ozoemena; Joey E Lai-Cheong; Jeffrey Gawler; Katsushi Owaribe; Takashi Hashimoto; Jemima E Mellerio; John B Mee; John A McGrath
Journal:  J Invest Dermatol       Date:  2010-02-18       Impact factor: 8.551

9.  Rab27a and Rab27b control different steps of the exosome secretion pathway.

Authors:  Matias Ostrowski; Nuno B Carmo; Sophie Krumeich; Isabelle Fanget; Graça Raposo; Ariel Savina; Catarina F Moita; Kristine Schauer; Alistair N Hume; Rui P Freitas; Bruno Goud; Philippe Benaroch; Nir Hacohen; Mitsunori Fukuda; Claire Desnos; Miguel C Seabra; François Darchen; Sebastian Amigorena; Luis F Moita; Clotilde Thery
Journal:  Nat Cell Biol       Date:  2009-12-06       Impact factor: 28.824

10.  Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

Authors:  John A McGrath; Kristina L Stone; Rumena Begum; Michael A Simpson; Patricia J Dopping-Hepenstal; Lu Liu; James R McMillan; Andrew P South; Celine Pourreyron; W H Irwin McLean; Anna E Martinez; Jemima E Mellerio; Maddy Parsons
Journal:  Am J Hum Genet       Date:  2012-11-21       Impact factor: 11.025
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  4 in total

1.  Exophilin-5 Supports Lysosome-Mediated Trafficking Required for Epidermal Differentiation.

Authors:  Christine L Monteleon; In Young Lee; Todd W Ridky
Journal:  J Invest Dermatol       Date:  2019-05-11       Impact factor: 8.551

Review 2.  Recently Identified Forms of Epidermolysis Bullosa.

Authors:  John A McGrath
Journal:  Ann Dermatol       Date:  2015-12-07       Impact factor: 1.444

3.  Identification of Genetic and Epigenetic Variants Associated with Breast Cancer Prognosis by Integrative Bioinformatics Analysis.

Authors:  Arunima Shilpi; Yingtao Bi; Segun Jung; Samir K Patra; Ramana V Davuluri
Journal:  Cancer Inform       Date:  2017-01-09

Review 4.  Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.

Authors:  Pablo Jesús Marín-García; Lola Llobat
Journal:  Vet Sci       Date:  2022-08-15
  4 in total

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