Literature DB >> 31826952

Toward treatment and cure of epidermolysis bullosa.

Jouni Uitto1,2.   

Abstract

Entities:  

Year:  2019        PMID： 31826952      PMCID： PMC6936717          DOI： 10.1073/pnas.1919347117

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  27 in total

1.  Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders.

Authors:  Hassan Vahidnezhad; Leila Youssefian; Amir Hossein Saeidian; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2018-10-28       Impact factor: 8.551

2.  Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Authors:  Roslyn Varki; Sara Sadowski; Jouni Uitto; Ellen Pfendner
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

3.  In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.

Authors:  Jouni Uitto
Journal:  Acta Derm Venereol       Date:  2011-05       Impact factor: 4.437

4.  APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Authors:  Raymond J Cho; Ludmil B Alexandrov; Nicoline Y den Breems; Velina S Atanasova; Mehdi Farshchian; Elizabeth Purdom; Tran N Nguyen; Cristian Coarfa; Kimal Rajapakshe; Marco Prisco; Joya Sahu; Patrick Tassone; Evan J Greenawalt; Eric A Collisson; Wei Wu; Hui Yao; Xiaoping Su; Christina Guttmann-Gruber; Josefina Piñón Hofbauer; Raabia Hashmi; Ignacia Fuentes; Stephen C Benz; Justin Golovato; Erik A Ehli; Christel M Davis; Gareth E Davies; Kyle R Covington; Dedee F Murrell; Julio C Salas-Alanis; Francis Palisson; Anna L Bruckner; William Robinson; Cristina Has; Leena Bruckner-Tuderman; Matthias Titeux; Marcel F Jonkman; Elham Rashidghamat; Su M Lwin; Jemima E Mellerio; John A McGrath; Johann W Bauer; Alain Hovnanian; Kenneth Y Tsai; Andrew P South
Journal:  Sci Transl Med       Date:  2018-08-22       Impact factor: 17.956

Review 5.  Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

Authors:  Jouni Uitto; Cristina Has; Hassan Vahidnezhad; Leila Youssefian; Leena Bruckner-Tuderman
Journal:  Matrix Biol       Date:  2016-08-03       Impact factor: 11.583

6.  Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain.

Authors:  B Castelo; D Viñal; R Maseda; L Ostios; D Sánchez; B García-Salvatierra; M J Escámez; L Martínez-Santamaría; M Del Río; M Mora-Rillo; Y Vilches; M J Beato; J C López Gutiérrez; N Romero; C Santos; J Miranda; R de Lucas
Journal:  Clin Transl Oncol       Date:  2019-03-12       Impact factor: 3.405

Review 7.  Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.

Authors:  Hye Jin Chung; Jouni Uitto
Journal:  Dermatol Clin       Date:  2010-01       Impact factor: 3.478

8.  Regeneration of the entire human epidermis using transgenic stem cells.

Authors:  Tobias Hirsch; Tobias Rothoeft; Norbert Teig; Johann W Bauer; Graziella Pellegrini; Laura De Rosa; Davide Scaglione; Julia Reichelt; Alfred Klausegger; Daniela Kneisz; Oriana Romano; Alessia Secone Seconetti; Roberta Contin; Elena Enzo; Irena Jurman; Sonia Carulli; Frank Jacobsen; Thomas Luecke; Marcus Lehnhardt; Meike Fischer; Maximilian Kueckelhaus; Daniela Quaglino; Michele Morgante; Silvio Bicciato; Sergio Bondanza; Michele De Luca
Journal:  Nature       Date:  2017-11-08       Impact factor: 49.962

9.  Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair.

Authors:  Araksya Izmiryan; Clarisse Ganier; Matteo Bovolenta; Alain Schmitt; Fulvio Mavilio; Alain Hovnanian
Journal:  Mol Ther Nucleic Acids       Date:  2018-06-26       Impact factor: 8.886

10.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Authors:  C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno
Journal:  Br J Dermatol       Date:  2019-08-09       Impact factor: 9.302
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  7 in total

Review 1.  Development and clinical translation of ex vivo gene therapy.

Authors:  Xiaomo Wu; Xiaorong He; Fahui Liu; Xiaochang Jiang; Ping Wang; Jinyan Zhang; Ju Jiang
Journal:  Comput Struct Biotechnol J       Date:  2022-06-11       Impact factor: 6.155

2.  Exposed CendR Domain in Homing Peptide Yields Skin-Targeted Therapeutic in Epidermolysis Bullosa.

Authors:  Toini Pemmari; Larisa Ivanova; Ulrike May; Prakash Lingasamy; Allan Tobi; Anja Pasternack; Stuart Prince; Olli Ritvos; Shreya Makkapati; Tambet Teesalu; Mitchell S Cairo; Tero A H Järvinen; Yanling Liao
Journal:  Mol Ther       Date:  2020-05-20       Impact factor: 11.454

3.  A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex.

Authors:  Xin Jiang; Yingyu Zhu; Huihui Sun; Feng Gu
Journal:  Ann Dermatol       Date:  2020-12-30       Impact factor: 1.444

4.  Epidermolysis Bullosa Registry Data in Iran.

Authors:  Siamak Farokhforghani; Mohammad Javad Fatemi; Parinaz Ghanooni; Faraz Asadpour; Shirin Araghi; Afshin Nouri
Journal:  World J Plast Surg       Date:  2021-09

5.  Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.

Authors:  Susanne Krämer; James Lucas; Francisca Gamboa; Miguel Peñarrocha Diago; David Peñarrocha Oltra; Marcelo Guzmán-Letelier; Sanchit Paul; Gustavo Molina; Lorena Sepúlveda; Ignacio Araya; Rubén Soto; Carolina Arriagada; Anne W Lucky; Jemima E Mellerio; Roger Cornwall; Fatimah Alsayer; Reinhard Schilke; Mark Adam Antal; Fernanda Castrillón; Camila Paredes; Maria Concepción Serrano; Victoria Clark
Journal:  Spec Care Dentist       Date:  2020-11

6.  Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa.

Authors:  Neng Yang; Yongyi Ma; Hong Yao; Qing Chang; Victor Zhang; Zhiqing Liang; Xiongwei Cai
Journal:  Mol Genet Genomic Med       Date:  2020-06-14       Impact factor: 2.183

Review 7.  Immunological mechanisms underlying progression of chronic wounds in recessive dystrophic epidermolysis bullosa.

Authors:  Leonie Huitema; Taylor Phillips; Vitali Alexeev; Olga Igoucheva
Journal:  Exp Dermatol       Date:  2021-06-27       Impact factor: 4.511
  7 in total

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