Birt-Hogg-Dube syndrome is a novel ciliopathy

Autor: Luijten, M. N. H., Basten, S. G., Claessens, T., Vernooij, M., Scott, C. L., Janssen, R., Easton, J. A., Kamps, M. A. F., Vreeburg, M., Broers, J. L. V., van Geel, M., Menko, F. H., Harbottle, R. P., Nookala, R. K., Tee, A. R., Land, S. C., Giles, R. H., Coull, B. J., van Steensel, M. A. M.

Publikováno v: Human Molecular Genetics, 22(21), 4383-4397. Oxford University Press
Luijten, M N H, Basten, S G, Claessens, T, Vernooij, M, Scott, C L, Janssen, R, Easton, J A, Kamps, M A F, Vreeburg, M, Broers, J L V, Van Geel, M, Menko, F H, Harbottle, R P, Nookala, R K, Tee, A R, Land, S C, Giles, R H, Coull, B J & van Steensel, M A M 2013, ' Birt-Hogg-Dube syndrome is a novel ciliopathy ', Human Molecular Genetics, vol. 22, no. 21, pp. 4383-4397 . https://doi.org/10.1093/hmg/ddt288
Human Molecular Genetics; Vol 22

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4cab7ab7a3e19ff3170ef50fe45f1102
https://research.vumc.nl/en/publications/b03b0237-a0e9-4ce7-9bd9-be661f75621f

Candidate targets of copy number deletion events across 17 cancer types.

Autor: Qingyao Huang, Baudis, Michael

Publikováno v: Frontiers in Genetics; 1/16/2023, Vol. 14, p1-10, 10p

Decoding human cancer with whole genome sequencing: a review of PCAWG Project studies published in February 2020.

Autor: Giunta, Simona

Publikováno v: Cancer & Metastasis Reviews; Sep2021, Vol. 40 Issue 3, p909-924, 16p

Interleukin-32θ Triggers Cellular Senescence and Reduces Sensitivity to Doxorubicin-Mediated Cytotoxicity in MDA-MB-231 Cells.

Autor: Pham, Thu-Huyen¹ (AUTHOR) huyenpham@konkuk.ac.kr, Park, Hyo-Min¹ (AUTHOR) wkd910222@konkuk.ac.kr, Kim, Jinju¹ (AUTHOR) jinjukim78@konkuk.ac.kr, Hong, Jin-Tae² (AUTHOR) jinthong@chungbuk.ac.kr, Yoon, Do-Young¹ (AUTHOR) ydy4218@konkuk.ac.kr, Welsh, Michael (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. May2021, Vol. 22 Issue 9, p4974-4974. 1p.

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

Autor: Irma van de Beek, Iris E. Glykofridis, Michael W. T. Tanck, Monique N. H. Luijten, Theo M. Starink, Jesper A. Balk, Paul C. Johannesma, Eric Hennekam, Maurice J. B. van den Hoff, Quinn D. Gunst, Johan J. P. Gille, Abeltje M. Polstra, Pieter E. Postmus, Maurice A. M. van Steensel, Alex V. Postma, Rob M. F. Wolthuis, Fred H. Menko, Arjan C. Houweling, Quinten Waisfisz

Publikováno v: van de Beek, I, Glykofridis, I E, Tanck, M W T, Luijten, M N H, Starink, T M, Balk, J A, Johannesma, P C, Hennekam, E, van den Hoff, M J B, Gunst, Q D, Gille, J J P, Polstra, A M, Postmus, P E, van Steensel, M A M, Postma, A V, Wolthuis, R M F, Menko, F H, Houweling, A C & Waisfisz, Q 2023, ' Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene ', Journal of human genetics, vol. 68, no. 4, pp. 273-279 . https://doi.org/10.1038/s10038-022-01113-1
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group

Previously, we reported a series of families presenting with trichodiscomas, inherited in an autosomal dominant pattern. The phenotype was named familial multiple discoid fibromas (FMDF). The genetic cause of FMDF remained unknown so far. Trichodisco

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