Mutations in PERP Cause Dominant and Recessive Keratoderma

Autor: Vanessa Gildenstern, Keith A. Choate, Young H. Lim, Patrick Nitschké, Alain Hovnanian, Yolanda R. Helfrich, Richard P. Lifton, Christine Bole-Feysot, S. Duchatelet, Raúl de Lucas, Leonard M. Milstone, Lynn M. Boyden, Laura D. Attardi, Fernando Santos-Simarro, Laure Guibbal, Akemi Ishida-Yamamoto, Jing Zhou, Ronghua Hu

Publikováno v: Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, 139, pp.380-390. ⟨10.1016/j.jid.2018.08.026⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Investigation of genetic determinants of Mendelian skin disorders has substantially advanced understanding of epidermal biology. Here we show that mutations in PERP, encoding a crucial component of desmosomes, cause both dominant and recessive human

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1881eb74feafba970319d94afe510fa
https://doi.org/10.1016/j.jid.2018.08.026

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

Autor: Judith Fischer, Amy S. Paller, Matthias Greutmann, Boris Rebolledo-Jaramillo, Martin Theiler, Daniele Castiglia, Ignacia Fuentes, Lisa Weibel, Giovanna Zambruno, Juna Leppert, Francis Palisson, Antonio Barbato, M. Joao Yubero, Hagen Ott, Sofia Burattini, S. Duchatelet, Christoph Gräni, Agnes Schwieger-Briel, Cristina Has, Rodrigo Ibañez-Arenas, Alain Hovnanian

Publikováno v: The Journal of investigative dermatology. 139(1)

Inherited epidermolysis bullosa (EB) comprises rare heterogeneous disorders characterized by cutaneous and mucosal fragility. Most of the 20 proteins affected have structural functions. Recently, a previously undescribed type of EB simplex (EBS), cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::414ca00881e4ca12f76dbb3d4f325ff3
https://pubmed.ncbi.nlm.nih.gov/30579426

Efficacy of ertapenem in severe hidradenitis suppurativa: a pilot study in a cohort of 30 consecutive patients

Autor: Olivier Join-Lambert, S. Duchatelet, Vincent Jullien, Maïa Delage, Jean-Philippe Jais, Olivier Lortholary, Hélène Guet-Revillet, Alain Hovnanian, Hélène Coignard-Biehler, Xavier Nassif, Aude Nassif, Sylvain Poirée

Publikováno v: Journal of Antimicrobial Chemotherapy. 71:513-520

OBJECTIVES Hidradenitis suppurativa (HS) is an inflammatory skin disease typically localized in the axillae and inguinal and perineal areas. In the absence of standardized medical treatment, severe HS patients present chronic suppurative lesions with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc926a7304614b6eecd3d70320c3d3d7
https://doi.org/10.1093/jac/dkv361

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations

Autor: S. Duchatelet, Alain Hovnanian, Patrick Nitschke, M. Zarhrate, Sylvie Fraitag, Christine Bodemer, L. Guibbal, S. de Veer

Publikováno v: British Journal of Dermatology. 171:675-678

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4476ea924663c3b8b7c3870e8c8a6810
https://doi.org/10.1111/bjd.12951