Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD

Autor: Sheng Wang, Belinda Wang, Vanessa Drury, Sam Drake, Nawei Sun, Hasan Alkhairo, Juan Arbelaez, Clif Duhn, Tourette International Collaborative Genetics (TIC Genetics), Vanessa H. Bal, Kate Langley, Joanna Martin, Pieter J. Hoekstra, Andrea Dietrich, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Thomas V. Fernandez, Michael J. Owen, Michael C. O’Donovan, Anita Thapar, Matthew W. State, A. Jeremy Willsey

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)

Abstract Autism spectrum disorder (ASD), Tourette syndrome (TS), and attention-deficit/hyperactivity disorder (ADHD) display strong male sex bias, due to a combination of genetic and biological factors, as well as selective ascertainment. While the h

Externí odkaz: https://doaj.org/article/0f0d828cb9a44cc7a0dc9536fdc3e9b0

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Autor: Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Thomas V. Fernandez, Joseph D. Buxbaum, Silvia De Rubeis, Dorothy E. Grice, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Peristera Paschou, A. Jeremy Willsey, Matthew W. State

Publikováno v: Cell Reports, Vol 24, Iss 13, Pp 3441-3454.e12 (2018)

Summary: We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. W

Externí odkaz: https://doaj.org/article/49c5d49b10be47ef8ef174ef17388b73

Adrenomedullin promotes interneuron migration in a dual human model for hypoxic interneuronopathy of prematurity

Autor: Wojciech P. Michno, Alyssa Puno, Li Li, Amanda Everitt, Kate McCluskey, Fikri Birey, Saw Htun, Dhriti Nagar, Yuqin Dai, Emily Gurwitz, A. Jeremy Willsey, Anca M. Pasca

SUMMARYExtremely preterm born individuals at < 28 postconceptional weeks (PCW) are at high risk for encephalopathy of prematurity and life-long neuropsychiatric conditions. Clinical studies and animal models of preterm brain injury suggest that encep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ac26a058eb1bb152677037bd0eb68a32
https://doi.org/10.1101/2023.05.01.538334

Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Autor: Fotis Tsetsos, Apostolia Topaloudi, Pritesh Jain, Zhiyu Yang, Dongmei Yu, Petros Kolovos, Zeynep Tumer, Renata Rizzo, Andreas Hartmann, Christel Depienne, Yulia Worbe, Kirsten R. Müller-Vahl, Danielle C. Cath, Dorret I. Boomsma, Tomasz Wolanczyk, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Shanmukha S. Padmanabhuni, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Evangelia Yannaki, John A. Stamatoyannopoulos, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Pablo Mir, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Veit Roessner, Susanne Walitza, Anette Schrag, Davide Martino, Jay A. Tischfield, Gary A. Heiman, A. Jeremy Willsey, Andrea Dietrich, Lea K. Davis, James J. Crowley, Carol A. Mathews, Jeremiah M. Scharf, Marianthi Georgitsi, Pieter J. Hoekstra, Peristera Paschou, Cathy L. Barr, James R. Batterson, Cheston Berlin, Cathy L. Budman, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Yves Dion, Nelson B. Freimer, Marco A. Grados, Erica Greenberg, Matthew E. Hirschtritt, Alden Y. Huang, Cornelia Illmann, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. McMahon, Benjamin M. Neale, Michael S. Okun, Lisa Osiecki, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan H. Smit, Jae Hoon Sul, Christos Androutsos, Entela Basha, Luca Farkas, Jakub Fichna, Piotr Janik, Mira Kapisyzi, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Natalia Szejko, Urszula Szymanska, Vaia Tsironi, Alan Apter, Juliane Ball, Benjamin Bodmer, Emese Bognar, Judith Buse, Marta Correa Vela, Carolin Fremer, Blanca Garcia-Delgar, Mariangela Gulisano, Annelieke Hagen, Julie Hagstrøm, Marcos Madruga-Garrido, Alessandra Pellico, Daphna Ruhrman, Jaana Schnell, Paola Rosaria Silvestri, Liselotte Skov, Tamar Steinberg, Friederike Tagwerker Gloor, Victoria L. Turner, Elif Weidinger, John Alexander, Tamas Aranyi, Wim R. Buisman, Jan K. Buitelaar, Nicole Driessen, Petros Drineas, Siyan Fan, Natalie J. Forde, Sarah Gerasch, Odile A. van den Heuvel, Cathrine Jespersgaard, Ahmad S. Kanaan, Harald E. Möller, Muhammad S. Nawaz, Ester Nespoli, Luca Pagliaroli, Geert Poelmans, Petra J.W. Pouwels, Francesca Rizzo, Dick J. Veltman, Ysbrand D. van der Werf, Joanna Widomska, Nuno R. Zilhäo, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Thomas V. Fernandez, Donald L. Gilbert, Hyun Ju Hong, Laura Ibanez-Gomez, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L. Leventhal, Athanasios Maras, Tara L. Murphy, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Matthew W. State, Frank Visscher, Sheng Wang, Samuel H. Zinner

Publikováno v: Biological Psychiatry. Elsevier USA
Biological psychiatry. Elsevier USA
The TSAICG, The TIC Genetics Collaborative Group, The TSGeneSEE Initiative, The EMTICS Collaborative Group, The TS-EUROTRAIN Network & The PGC TS Working Group 2023, ' Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome ', Biological Psychiatry . https://doi.org/10.1016/j.biopsych.2023.01.023
Tsetsos, F, Topaloudi, A, Jain, P, Cath, D C, Boomsma, D I, Georgitsi, M, Hoekstra, P J, Paschou, P & Tourette Syndrome Association International Consortium for Genetics (TSAICG) 2023, ' Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome ', Biological psychiatry . https://doi.org/10.1016/j.biopsych.2023.01.023

Background: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture and is characterized by multiple motor tics and at least one vocal tic persisting for more than 1 year. Methods: We performed a genome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78fa15af44fe87bfe9b33010ba24f59a
https://doi.org/10.1016/j.biopsych.2023.01.023

Localized JNK signaling regulates organ size during development

Autor: Helen Rankin Willsey, Xiaoyan Zheng, José Carlos Pastor-Pareja, A Jeremy Willsey, Philip A Beachy, Tian Xu

Publikováno v: eLife, Vol 5 (2016)

A fundamental question of biology is what determines organ size. Despite demonstrations that factors within organs determine their sizes, intrinsic size control mechanisms remain elusive. Here we show that Drosophila wing size is regulated by JNK sig

Externí odkaz: https://doaj.org/article/aa1e8c8e35184313abdc04b958d63d0e