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5 results on '"Luca, K.L. de"'

1. Single-cell profiling of transcriptome and histone modifications with EpiDamID

Author

Rang, Franka J., Luca, K.L. de, Vries, S. de, Valdes-Quezada, Christian, Boele, Ellen, Nguyen, P., Bakkers, J., Kind, Jop, Rang, Franka J., Luca, K.L. de, Vries, S. de, Valdes-Quezada, Christian, Boele, Ellen, Nguyen, P., Bakkers, J., and Kind, Jop

Abstract

Contains fulltext : 282403.pdf (Publisher’s version ) (Open Access)

Published
2022

2. Single-cell profiling of transcriptome and histone modifications with EpiDamID

Author

Rang, Franka J., Luca, K.L. de, Vries, S. de, Valdes-Quezada, Christian, Boele, Ellen, Nguyen, P., Bakkers, J., Kind, Jop, Rang, Franka J., Luca, K.L. de, Vries, S. de, Valdes-Quezada, Christian, Boele, Ellen, Nguyen, P., Bakkers, J., and Kind, Jop

Abstract

Contains fulltext : 282403.pdf (Publisher’s version ) (Open Access)

Published
2022

3. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

Author

Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., Kloosterman, W.P., Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., and Kloosterman, W.P.

Abstract

Contains fulltext : 139109.pdf (publisher's version ) (Open Access), Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and drive formation of fusion genes similar to those described in cancer. Subsequent analysis of a large set of 552 de novo germline genomic rearrangements underlying congenital disorders revealed enrichment for genes rearranged in cancer and overlap with somatic cancer breakpoints. Breakpoints of common (inherited) germline structural variations also overlap with cancer breakpoints but are depleted for cancer genes. We propose that the same genomic positions are prone to genomic rearrangements in germline and soma but that timing and context of breakage determines whether developmental defects or cancer are promoted.

Published
2014

4. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

Author

Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., Kloosterman, W.P., Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., and Kloosterman, W.P.

Abstract

Contains fulltext : 139109.pdf (publisher's version ) (Open Access), Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and drive formation of fusion genes similar to those described in cancer. Subsequent analysis of a large set of 552 de novo germline genomic rearrangements underlying congenital disorders revealed enrichment for genes rearranged in cancer and overlap with somatic cancer breakpoints. Breakpoints of common (inherited) germline structural variations also overlap with cancer breakpoints but are depleted for cancer genes. We propose that the same genomic positions are prone to genomic rearrangements in germline and soma but that timing and context of breakage determines whether developmental defects or cancer are promoted.

Published
2014

5. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

Author

Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., Kloosterman, W.P., Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., and Kloosterman, W.P.

Abstract

Contains fulltext : 139109.pdf (publisher's version ) (Open Access), Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and drive formation of fusion genes similar to those described in cancer. Subsequent analysis of a large set of 552 de novo germline genomic rearrangements underlying congenital disorders revealed enrichment for genes rearranged in cancer and overlap with somatic cancer breakpoints. Breakpoints of common (inherited) germline structural variations also overlap with cancer breakpoints but are depleted for cancer genes. We propose that the same genomic positions are prone to genomic rearrangements in germline and soma but that timing and context of breakage determines whether developmental defects or cancer are promoted.

Published
2014

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