SomaticTARDBPvariants as a cause of semantic dementia

Autor: Joyce B. J. van Meurs, Takuya Oshima, Harro Seelaar, John C. van Swieten, André G. Uitterlinden, Netherlands Brain Bank, August B. Smit, Ronald E. van Kesteren, Bart J. L. Eggen, Laura Donker Kaat, Francesca Paron, Shamiram Melhem, Suzanne S M Miedema, Pascal P. Arp, Jeroen van Rooij, Merel O. Mol, Pelle van der Wal, Emanuele Buratti

Publikováno v: Brain, 143, 3827-3841. Oxford University Press
Brain, 143(12), 3827-3841. Oxford University Press
van Rooij, J, Mol, M, Melhem, S, van der Wal, P, Arp, P, Paron, F, Donker Kaat, L, Seelaar, H, Brain Bank, N, Miedema, S S M, Oshima, T, Eggen, B J, Uitterlinden, A G, van Meurs, J B J, van Kesteren, RE, Smit, A B, Buratti, E & van Swieten, J C 2020, ' Somatic TARDBP variants as a cause of semantic dementia ', Brain, vol. 143, no. 12, pp. 3827-3841 . https://doi.org/10.1093/brain/awaa317
Brain

Could somatic variants arising during brain development give rise to non-hereditary neurodegenerative disease? By sequencing DNA from brain tissue and blood from the same semantic dementia patients, van Rooij et al. identify brain-specific somatic TA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef967f61b2d610ca0810629d5399f19
https://doi.org/10.1093/brain/awaa317

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

Autor: Frank J. A. van Rooij, Joost Verlouw, Robert Kraaij, Linda Broer, Jeroen van Rooij, André G. Uitterlinden, Pascal P. Arp, Annemieke J.M.H. Verkerk

Publikováno v: Genetics in Medicine
Genetics in Medicine, 22(11), 1812-1820. Lippincott Williams & Wilkins

Purpose We studied the penetrance of pathogenically classified variants in an elderly Dutch population from the Rotterdam Study, for which deep phenotyping is available. We screened the 59 actionable genes for which reporting of known pathogenic vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::433591500ccd061e2022ffe1ef5480e5
https://doi.org/10.1038/s41436-020-0900-8

The interleukin-6 –174 G/C promoter polymorphism and arterial stiffness; the Rotterdam Study

Autor: Mark PS Sie, Francesco US Mattace-Raso, André G Uitterlinden, Pascal P Arp, Albert Hofman, et al

Publikováno v: Vascular Health and Risk Management, Vol Volume 4, Pp 863-869 (2008)

Mark PS Sie1, Francesco US Mattace-Raso2, André G Uitterlinden2, Pascal P Arp2, Albert Hofman1, Huibert AP Pols2, Arnold PG Hoeks3, Robert S Reneman4, Roland Asmar5, Cornelia M van Duijn1, Jacqueline CM Witteman11Department of Epidemiology and Biost

Externí odkaz: https://doaj.org/article/c564cd9ae59c4532a183bcc2d8dba46c

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

Autor: Joris Deelen, Antonia Trichopoulou, Sara Hägg, Kim Overvad, Elisabete Weiderpass, Iryna O. Fedko, Rudolf Kaaks, Nicola D. Kerrison, Kirsi H. Pietiläinen, Ida Surakka, Veikko Salomaa, Svetlana Stoma, Jaakko Kaprio, Alessandra Allione, Cornelia M. van Duijn, Nicholas G. Martin, Veryan Codd, Olle Melander, Nilesh J. Samani, Josine E. Verhoeven, Anne Tjønneland, Natalia Pervjakova, Domenico Palli, Adam S. Butterworth, Nicholas J. Wareham, María Dolores Chirlaque, P. Eline Slagboom, Massimo Mangino, Pascal P. Arp, Christopher P. Nelson, Brenda W.J.H. Penninx, Jessica L. Buxton, Pietro Ferrari, Tao Jiang, Iiris Hovatta, Taylor K. Loe, N. Charlotte Onland-Moret, Salvatore Panico, Peter Jones, Heiner Boeing, Timothy J. Key, Luca A. Lotta, Miguel Rodríguez-Barranco, Diana van Heemst, Chen Li, Robert A. Scott, Sarah E. Medland, Giuseppe Matullo, Alexessander Couto Alves, Rosario Tumino, Jouke-Jan Hottenga, Ken K. Ong, Vittorio Krogh, Gonneke Willemsen, Andres Metspalu, Eva Albrecht, Elina Sillanpää, Johan G. Eriksson, Najaf Amin, Dale R. Nyholt, Reedik Mägi, Eros Lazzerini Denchi, Peter M. Nilsson, André G. Uitterlinden, Antonio Agudo, Yuri Milaneschi, Ashley van der Spek, Alessia Russo, Linda Broer, Federico Canzian, Marian Beekman, Grant W. Montgomery, Sophie C Warner, Guy Fagherazzi, Markus Perola, Alexandra I. F. Blakemore, Marjo-Riitta Järvelin, Robert Karlsson, Tim D. Spector, Paul W. Franks, H. Eka D. Suchiman, Claudia Langenberg, Liher Imaz, Nancy L. Pedersen, Scott D. Gordon, Stephen E. Hamby, J. Ramón Quirós, Yvonne T. van der Schouw, Concha Moreno, Christian Gieger, Pekka Jousilahti, Dorret I. Boomsma, Marc J. Gunter, Benjamin Miraglio, Gianluca Severi, John Danesh

Publikováno v: American Journal of Human Genetics, 106(3), 389-404. CELL PRESS
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J-J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M-D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American Journal of Human Genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006
Am. J. Hum. Genet. 106, 389-404 (2020)
American Journal of Human Genetics, 106(3), 389-404. Cell Press
Dipòsit Digital de la UB
Universidad de Barcelona
Am J Hum Genet
American journal of human genetics, 106(3), 389-404. Cell Press
American Journal of Human Genetics
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American journal of human genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006
American Journal of Human Genetics, 106(3), 389. Cell Press
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J-J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M-D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American Journal of Human Genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006

Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e238cacd13be676a0aea71ee6af24125
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-169391

Exome Sequencing Analysis Identifies Rare Variants in

Autor: Ashley, van der Spek, Sophie C, Warner, Linda, Broer, Christopher P, Nelson, Dina, Vojinovic, Shahzad, Ahmad, Pascal P, Arp, Rutger W W, Brouwer, Matthew, Denniff, Mirjam C G N, van den Hout, Jeroen G J, van Rooij, Robert, Kraaij, Wilfred F J, van IJcken, Nilesh J, Samani, M Arfan, Ikram, André G, Uitterlinden, Veryan, Codd, Najaf, Amin, Cornelia M, van Duijn

Publikováno v: Frontiers in Genetics

Telomeres are important for maintaining genomic stability. Telomere length has been associated with aging, disease, and mortality and is highly heritable (∼82%). In this study, we aimed to identify rare genetic variants associated with telomere len

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ed0fbd600a8d08424ed4f17b79adaf87
https://pubmed.ncbi.nlm.nih.gov/32425970