Literature DB >> 30120936

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.

Agnes Schwieger-Briel1, Ignacia Fuentes2, Daniele Castiglia3, Antonio Barbato4, Matthias Greutmann5, Juna Leppert6, Sabine Duchatelet7, Alain Hovnanian7, Sofia Burattini8, M Joao Yubero9, Rodrigo Ibañez-Arenas10, Boris Rebolledo-Jaramillo11, Christoph Gräni12, Hagen Ott13, Martin Theiler14, Lisa Weibel14, Amy S Paller15, Giovanna Zambruno3, Judith Fischer16, Francis Palisson17, Cristina Has18.   

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Year:  2018        PMID： 30120936     DOI： 10.1016/j.jid.2018.07.022

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


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  10 in total

Review 1.  [Syndromes with skin fragility].

Authors:  A Reimer; C Has
Journal:  Hautarzt       Date:  2019-07       Impact factor: 0.751

Review 2.  Anesthetic Management of Adults With Epidermolysis Bullosa.

Authors:  Brita M Mittal; Candida L Goodnough; Erin Bushell; Sophia Turkmani-Bazzi; Kelly Sheppard
Journal:  Anesth Analg       Date:  2022-01-01       Impact factor: 6.627

Review 3.  Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.

Authors:  Roddy Walsh; Joost A Offerhaus; Rafik Tadros; Connie R Bezzina
Journal:  Nat Rev Cardiol       Date:  2021-09-15       Impact factor: 32.419

4.  Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation-associated cardiomyopathy.

Authors:  Erica Ann Grilletta
Journal:  JAAD Case Rep       Date:  2019-10-07

5.  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

6.  Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Authors:  Carola Hedberg-Oldfors; Alexandra Abramsson; Daniel P S Osborn; Olof Danielsson; Afsoon Fazlinezhad; Yalda Nilipour; Laila Hübbert; Inger Nennesmo; Kittichate Visuttijai; Jaipreet Bharj; Evmorfia Petropoulou; Azza Shoreim; Barbara Vona; Najmeh Ahangari; Marcela Dávila López; Mohammad Doosti; Rakesh Kumar Banote; Reza Maroofian; Malin Edling; Mehdi Taherpour; Henrik Zetterberg; Ehsan Ghayoor Karimiani; Anders Oldfors; Yalda Jamshidi
Journal:  Hum Mol Genet       Date:  2019-06-01       Impact factor: 6.150

7.  A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.

Authors:  Joana G P Jacinto; Irene M Häfliger; Inês M B Veiga; Cord Drögemüller; Jørgen S Agerholm
Journal:  J Vet Intern Med       Date:  2020-11-02       Impact factor: 3.333

8.  The analysis of echocardiographic results in patients suffering from epidermolysis bullosa.

Authors:  Katarzyna Kurnicka; Katarzyna Osipowicz; Olga Dzikowska-Diduch; Katarzyna Wertheim-Tysarowska; Cezary Kowalewski; Piotr Pruszczyk
Journal:  Postepy Dermatol Alergol       Date:  2021-01-06       Impact factor: 1.837

9.  Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.

Authors:  Elena Logli; Elisa Marzuolo; Marco D'Agostino; Libenzio Adrian Conti; Anna Maria Lena; Andrea Diociaiuti; Elena Dellambra; Cristina Has; Valentina Cianfanelli; Giovanna Zambruno; May El Hachem; Alessandra Magenta; Eleonora Candi; Angelo Giuseppe Condorelli
Journal:  Hum Mol Genet       Date:  2022-04-22       Impact factor: 5.121

Review 10.  Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Authors:  Monica-Cristina Pânzaru; Lavinia Caba; Laura Florea; Elena Emanuela Braha; Eusebiu Vlad Gorduza
Journal:  Diagnostics (Basel)       Date:  2022-05-27
  10 in total

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