Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

Autor: Jeroen Bremer, Olivier Bornert, Alexander Nyström, Antoni Gostynski, Marcel F Jonkman, Annemieke Aartsma-Rus, Peter C van den Akker, Anna MG Pasmooij

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)

The “generalized severe” form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous m

Externí odkaz: https://doaj.org/article/fb9cc181ecc84470ac0118eea81be9c1

Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes

Autor: Peter C. van den Akker, Maria C. Bolling, Anna M. G. Pasmooij

Publikováno v: Biomedicines, Vol 10, Iss 9, p 2118 (2022)

Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease phen

Externí odkaz: https://doaj.org/article/8374ccc4e3694205a936d532872616e9

Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization

Autor: Eva W H Korte, Tobias Welponer, Jan Kottner, Sjoukje van der Werf, Peter C van den Akker, Barbara Horváth, Dimitra Kiritsi, Martin Laimer, Anna M G Pasmooij, Verena Wally, Maria C Bolling

Publikováno v: British Journal of Dermatology.

Background Epidermolysis bullosa (EB) is a rare, genetically and clinically heterogeneous group of skin fragility disorders. No cure is currently available, but many novel and repurposed treatments are upcoming. For adequate evaluation and comparison

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bbd565d26bd94b8d9dafd4c1e6ff9c0a
https://doi.org/10.1093/bjd/ljad077

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis

Autor: Irma van de Beek, Iris E Glykofridis, Jan C Oosterwijk, Peter C van den Akker, Gilles F H Diercks, Maria C Bolling, Quinten Waisfisz, Arjen R Mensenkamp, Jesper A Balk, Rob Zwart, Alex V Postma, Hanne E J Meijers-Heijboer, R Jeroen A van Moorselaar, Rob M F Wolthuis, Arjan C Houweling

Publikováno v: van de Beek, I, Glykofridis, I E, Oosterwijk, J C, van den Akker, P C, Diercks, G F H, Bolling, M C, Waisfisz, Q, Mensenkamp, A R, Balk, J A, Zwart, R, Postma, A V, Meijers-Heijboer, H E J, van Moorselaar, R J A, Wolthuis, R M F & Houweling, A C 2023, ' PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis ', Human Molecular Genetics, vol. 32, no. 7, pp. 1223-1235 . https://doi.org/10.1093/hmg/ddac288
Human Molecular Genetics, 32, 1223-1235
Human Molecular Genetics, 32(7), 1223-1235. Oxford University Press
Human molecular genetics, 32(7), 1223-1235. Oxford University Press
Human Molecular Genetics, 32, 7, pp. 1223-1235

Contains fulltext : 291515.pdf (Publisher’s version ) (Open Access) Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell carcinomas. Here, we reveal a no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bee29415900ea2982a28cc3469f7db
https://research.vumc.nl/en/publications/d755d70a-4c1f-4979-ab6b-f902c4942091

A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

Autor: Mathilde C.S.C. Vermeer, Mohammad Al-Shinnag, Herman H.W. Silljé, Antonio Esquivel Gaytan, Dedee F. Murrell, Julie McGaughran, Wei Melbourne, Timothy Cowan, Peter C. van den Akker, Karin Y. van Spaendonck-Zwarts, Peter van der Meer, Maria C. Bolling

Publikováno v: British journal of dermatology, 187(6), 1045-1048. Wiley-Blackwell
The British journal of dermatology, 187(6). Wiley

This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52b2f85b9f989b8086e6dd744d2627e7
https://pure.amc.nl/en/publications/a-translation-reinitiation-variant-in-klhl24-also-causes-epidermolysis-bullosa-simplex-and-dilated-cardiomyopathy-via-intermediate-filament-degradation(d92ce4c8-2075-4c30-ab60-299bcbf298ab).html