Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Autor: Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)

Kinesins regulate intracellular transport and microtubule dynamics. Here, the authors show that KIF21B variants in humans associate with corpus callosum agenesis and microcephaly. Using mice and zebrafish, they showed the cellular mechanisms altered

Externí odkaz: https://doaj.org/article/85fa7763d73b4163bd09f2ee5a5c74a8

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Autor: Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)

Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that

Externí odkaz: https://doaj.org/article/663adb56ce6f405da787645af9303af8

Data from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Autor: Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, Hartmut P.H. Neumann

Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4fbe61dd8db06e5f706d9e065ad33de2
https://doi.org/10.1158/0008-5472.c.6499770.v1

Supplementary Table 1 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Autor: Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, Hartmut P.H. Neumann

Supplementary Table 1 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78ddf07e00ab6185d419cb6e06b8ddaf
https://doi.org/10.1158/0008-5472.22381140

Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer

Autor: Lisa S.M. Hofste, Maartje J. Geerlings, Daniel von Rhein, Heidi Rütten, A. Helen Westenberg, Marjan M. Weiss, Christian Gilissen, Tom Hofste, Rachel S. van der Post, Bastiaan R. Klarenbeek, Johannes H.W. de Wilt, Marjolijn J.L. Ligtenberg, Linda Garms, Maite Liem, Tom Rozema, Dareczka Wasowicz, Pim Burger, Fatih Polat, Koen Reijnders, Marnix de Roos, Colin Sietses

Publikováno v: European Journal of Surgical Oncology, 49, 7, pp. 1283-1290
European Journal of Surgical Oncology. W.B. Saunders Ltd
Libic2 collaborators group 2023, ' Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer ', European Journal of Surgical Oncology, vol. 49, no. 7, pp. 1283-1290 . https://doi.org/10.1016/j.ejso.2023.01.026
European Journal of Surgical Oncology, 49, 1283-1290

Contains fulltext : 293876.pdf (Publisher’s version ) (Open Access) INTRODUCTION: Patients with early-stage and locally advanced rectal cancer are often treated with neoadjuvant therapy followed by surgery or watch and wait. This study evaluated th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f8cb825ea7668967bed64ce1263935
https://repository.ubn.ru.nl/handle/2066/293876