Results 171 to 180 of about 1,041,152 (399)
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
npj Genomic Medicine, 2019 Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to P. Feliciano, Xueya Zhou, Irina Astrovskaya, Tychele N. Turner, Tianyun Wang, Leo Brueggeman, Rebecca A. Barnard, Alexander Hsieh, L. Snyder, D. Muzny, A. Sabo, Leonard John Andrea J. Charles Michael David G. Alpha Robe Abbeduto Acampado Ace Albright Alessandri Amaral A, L. Abbeduto, John Acampado, Andrea J. Ace, Charles M. Albright, M. Alessandri, David G. Amaral, Alpha Amatya, R. Annett, Ivette Arriaga, Ethan Bahl, A. Balasubramanian, Nicole Bardett, Asif Bashar, A. Beaudet, Landon Beeson, R. Bernier, E. Berry-Kravis, Stephanie Booker, S. Brewster, Elizabeth Brooks, Martin E. Butler, E. Butter, Kristen Callahan, Alexies Camba, S. Carpenter, N. Carriero, Lindsey A. Cartner, A. S. Chatha, Wubin Chin, R. Clark, Cheryl Cohen, E. Courchesne, J. Cubells, M. Currin, A. Daniels, L. DeMarco, M. Dennis, G. Dichter, Yan Ding, H. Dinh, Ryan N. Doan, H. Doddapaneni, S. Eldred, C. Eng, C. Erickson, A. Esler, Ali Fatemi, Gregory J. Fischer, Ian Fisk, E. Fombonne, Emily A. Fox, S. Francis, S. Friedman, Swami Ganesan, M. Garrett, V. Gazestani, Madeleine R. Geisheker, J. Gerdts, D. Geschwind, R. Goin-Kochel, A. Griswold, Luke P Grosvenor, Angela J. Gruber, A. Gulsrud, Jaclyn A. Gunderson, Anibal Gutierrez, Melissa N. Hale, Monica Haley, Jacob B. Hall, Kira E. Hamer, Bing Han, Nathan Hanna, Christina M. Harkins, Nina Harris, Brenda Hauf, Caitlin Hayes, S. Hepburn, Lynn M. Herbert, Michelle Heyman, Brittani A. Phillips, S. Horner, Jianhong Hu, L. Huang-Storms, H. Hutter, Dalia Istephanous, Suma Jacob, William Jensen, Mark Jones, Michelle Jordy, A. Juárez, S. Kanne, Hannah E. Kaplan, M. Kent, A. Kitaygorodsky, T. Koomar, V. Korchina, Anthony D. Krentz, H. Schneider, Elena Lamarche, R. Landa, A. Lash, J. K. Law, Noah Lawson, Kevin Layman, Holly Lechniak, Sandra Lee, S. Lee, D. Coury, C. Martin, Deana D. Li, Hai Li, Natasha Lillie, Xiuping Liu, Catherine Lord, Malcolm D. Mallardi, Patricia Manning, Julie Manoharan, Richard A Marini, Gabriela Marzano, Andrew Mason, Emily T. Matthews, J. McCracken, Alexander P. McKenzie, Z. Momin, M. Morrier, S. Murali, V. J. Myers, J. Neely, C. Nessner, Amy G. Nicholson, Kaela O’Brien, Eirene O’Connor, Cesar Ochoa-Lubinoff, Jessica Orobio, O. Ousley, Lillian D. Pacheco, J. Pandey, Anna Marie Paolicelli, Katherine Pawlowski, K. Pierce, J. Piven, S. Plate, M. Popp, T. Pramparo, Lisa M. Prock, Hongjian Qi, Shanping Qiu, A. Rachubinski, Kshitij Rajbhandari, Rishiraj Rana, R. Remington, Catherine E. Rice, Chris Rigby, B. E. Robertson, K. Roeder, C. Rosenberg, Nicole M. Russo‐Ponsaran, E. Ruzzo, M. Sahin, A. Salomatov, Sophia Sandhu, Susana Santangelo, Dustin E Sarver, Jessica F. Scherr, R. Schultz, K. Schweers, Swapnil Shah, T. Shaikh, Amanda D. Shocklee, Laura Simon, Andrea R Simon, Vini Singh, Steve Skinner, Kaitlin Smith, Christopher J. Smith, L. Soorya, Aubrie Soucy, Alexandra N. Stephens, Colleen M. Stock, J. Sutcliffe, A. Swanson, Maira Tafolla, N. Takahashi, T. Thomas, C. Thomas, Samantha Thompson, Jennifer Tjernagel, Bonnie Van Metre, J. Veenstra-VanderWeele, Brianna M. Vernoia, Jermel Wallace, Corrie H. Walston, Jiayao Wang, Z. Warren, Lucy Wasserburg, L. C. White, Sabrina White, Ericka L. Wodka, Simon X. Xu, Wha S. Yang, Meredith Yinger, Timothy Yu, Lan Zang, Hana Zaydens, Haicang Zhang, Haoquan Zhao, R. Gibbs, E. Eichler, B. O’Roak, J. Michaelson, N. Volfovsky, Yufeng Shen, W. Chung +224 moresemanticscholar +1 more sourceA Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala +17 morewiley +1 more sourceExome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
Nature Genetics, 2022 D. Palmer, D. Howrigan, S. Chapman, R. Adolfsson, N. Bass, D. Blackwood, M. Boks, Chia-Yen Chen, C. Churchhouse, A. Corvin, N. Craddock, D. Curtis, A. Di Florio, F. Dickerson, N. Freimer, F. Goes, Xiaoming Jia, I. Jones, Lisa Jones, L. Jonsson, R. Kahn, M. Landén, A. Locke, A. McIntosh, A. McQuillin, D. Morris, M. O’Donovan, R. Ophoff, M. Owen, N. Pedersen, D. Posthuma, A. Reif, Neil Risch, C. Schaefer, L. Scott, T. Singh, J. Smoller, M. Solomonson, D. Clair, E. Stahl, A. Vreeker, J. Walters, Weiqing Wang, N. Watts, R. Yolken, P. Zandi, B. Neale +46 moresemanticscholar +1 more sourcePhase 1, First‐In‐Human, Single‐/Multiple‐Ascending Dose Study of Iluzanebart in Healthy Volunteers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of iluzanebart, a fully human monoclonal antibody TREM2 (triggering receptor expressed on myeloid cells 2) agonist, after single‐ (SAD) and multiple‐ascending‐dose (MAD) administration.Andreas Meier, Spyros Papapetropoulos, Andrew Marsh, Kelly Neelon, David Stiles, Ryan O'Mara, Evan A. Thackaberry, Marco Colonna, Raj Rajagovindan +8 morewiley +1 more sourceCompound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson +15 morewiley +1 more sourceLoss of Golga7 Suppresses Oncogenic Nras‐Driven Leukemogenesis without Detectable Toxicity in Adult Mice
Advanced Science, EarlyView.NRAS mutations are widespread in hematologic malignancies. Our study shows that GOLGA7 serves as a safe and effective therapeutic target for NRAS‐driven leukemia. Loss of Golga7 in adult mice effectively suppresses NrasG12D‐driven myeloproliferative neoplasm by disrupting its PM localization and impairing subsequent MAPK signaling, without affecting ...Bo Jiao, Lei Yan, Rui Zhang, Wei Huang, Xinru Wang, Chenxuan Liu, Peihong Wang, Pengfei Xu, Jinzeng Wang, Zhou Fang, Donghe Li, Zhizhou Xia, Jiaoyang Li, Shiyu Ji, Qianqian Zhang, Min Wu, Shengyue Wang, Ping Liu, Ruibao Ren +18 morewiley +1 more sourceGenomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract
Cancer Communications, Volume 42, Issue 12, Page 1367-1386, December 2022., 2022 Abstract Background
Neuroendocrine carcinomas of the gastrointestinal tract (GI‐NECs) remain a disease of grim prognosis with limited therapeutic options. Their molecular characteristics are still undefined. This study aimed to explore the underlying genetic basis and heterogeneity of GI‐NECs.Huanwen Wu, Zicheng Yu, Yueping Liu, Lei Guo, Lianghong Teng, Lingchuan Guo, Li Liang, Jing Wang, Jie Gao, Ruiyu Li, Ling Yang, Xiu Nie, Dan Su, Zhiyong Liang +13 morewiley +1 more source