Literature DB >> 29779254

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.

V K Yenamandra1, P C van den Akker2, H H Lemmink2, S Z Jan2, G F H Diercks3, M Vermeer4, M P van den Berg4, P van der Meer4, A M G Pasmooij1, R J Sinke2, M F Jonkman1, M C Bolling1.   

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Year:  2018        PMID： 29779254     DOI： 10.1111/bjd.16797

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  6 in total

Review 1.  [Syndromes with skin fragility].

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

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

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

3.  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

4.  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 5.  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

6.  Identifying Epidermolysis Bullosa Patient Needs and Perceived Treatment Benefits: An Explorative Study Using the Patient Benefit Index.

Authors:  Nicholas H B Schräder; Eva W H Korte; José C Duipmans; Roy E Stewart; Maria C Bolling; André P Wolff
Journal:  J Clin Med       Date:  2021-12-13       Impact factor: 4.241
  6 in total

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