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Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

Autor: J. Küsel, Julien Thevenon, Emmanuelle Bourrat, Steffen Hörer, Rudolf Happle, Lisa Heinz, Pierre Vabres, Svenja Alter, Alrun Hotz, Andreas Zimmer, Judith Fischer

Publikováno v: British Journal of Dermatology
British Journal of Dermatology, Wiley, 2019, 180 (3), pp.657-661. ⟨10.1111/bjd.17024⟩

International audience; Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb5a0f970cf82954e1f19c68d7112f4f
https://doi.org/10.1111/bjd.17024

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Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

Autor: N. Malchin, J. Mohamad, Monia Kharfi, Manuela Pigors, Diana C. Blaydon, Judith Fischer, Ofer Sarig, Lisa Heinz, Vincent Plagnol, Shefali Rajpopat, Giles G. Lestringant, David P. Kelsell, Eli Sprecher

Publikováno v: The American Journal of Human Genetics. 99(2):430-436

SERPINS comprise a large and functionally diverse family of serine protease inhibitors. Here, we report three unrelated families with loss-of-function mutations in SERPINB8 in association with an autosomal-recessive form of exfoliative ichthyosis. Wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d9a80aad6d5c8199776c5b82ce1880

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Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis

Autor: Ingrid Hausser, Vibeke Vestergaard, Judith Fischer, Hans Törmä, Alrun Hotz, Andreas Zimmer, Emmanuelle Bourrat, Lisa Heinz, Anca Dragomir, Marc-Alexander Rauschendorf, Anette Bygum, Christina Fagerberg, Hanqian Zhang, Anders Vahlquist

Publikováno v: Hotz, A, Fagerberg, C, Vahlquist, A, Bygum, A, Törmä, H, Rauschendorf, M-A, Zhang, H, Heinz, L, Bourrat, E, Hausser, I, Vestergaard, V, Dragomir, A, Zimmer, A D & Fischer, J 2018, ' Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis ', British Journal of Dermatology, vol. 178, no. 3, pp. e207-e209 . https://doi.org/10.1111/bjd.15994

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SU

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ca0215e5585d646236a5e6bf4a5e51f
https://findresearcher.sdu.dk:8443/ws/files/128559145/Identification_of_Mutations_in_SDR9C7_in_6_Families_with_Autosomal_Recessive_Congenital_Ichthyosis.pdf

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SULT2B1 : un nouveau gène responsable d’ichtyose congénitale autosomique récessive

Autor: Judith Fischer, K. Ben Younes, Lisa Heinz, Hamida Turki, H. Mesrati, F. Frikha, Slaheddine Marrakchi, K. Sallemi

Publikováno v: Annales de Dermatologie et de Vénéréologie. 144:S254

Introduction Les ichtyoses hereditaires sont un groupe de genodermatoses cliniquement et genetiquement heterogenes. Nous avons suivi 3 patients tunisiens, avec une forme particuliere d’ichtyose congenitale. Utilisant la technique du sequencage d’

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ffba1877bb1b4aa0aef80fbefeaa300f
https://doi.org/10.1016/j.annder.2017.09.416

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Bridges: An Interdisciplinary Column

Autor: Lisa Heinz

Publikováno v: Interdisciplinary Science Reviews. 15:6-9

Is interdisciplinary research born or made? Governments, companies, and even a few enlightened universities have tried to crossbreed disciplines. They build institutes, make signs with long titles to put over the door, appoint prestigious directors,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::407a89789575d5483731a5da8362cd3c
https://doi.org/10.1179/isr.1990.15.1.6

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