Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Xiangbin Jia"'
Autor:
Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael A. Bernier, Rachel K. Earl, Evangeline C. Kurtz-Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca Clark, Jessica Sebastian, Alberto Fernandez-Jaen, Sara Alvarez, Staci D. King, Luiza L.P. Ramos, Mara Lucia S.F. Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 19 (2022)
Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with a strong genetic component. An excess of likely gene-disruptive (LGD) mutations in GIGYF1 was implicated in ASD. Here, we report that GIGYF1 is the second-most mu
Externí odkaz:
https://doaj.org/article/7a5c86206a264d7985452b8766ff09b2
Autor:
Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, Nan Pang, Lian Huang, Lin Han, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Lu Xia, Jingjing Chen, Lu Shen, Ying Li, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael A. Bernier, Evan E. Eichler, Kun Xia
Publikováno v:
Molecular Autism, Vol 9, Iss 1, Pp 1-12 (2018)
Abstract Background We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to
Externí odkaz:
https://doaj.org/article/fe19bf62fec34bfe8f13bf132c5bca9b
Autor:
Jianbo Cheng, Zhen Wang, Manpei Tang, Wen Zhang, Guozhong Li, Senwei Tan, Chenjun Mu, Mengyuan Hu, Dan Zhang, Xiangbin Jia, Yangxuan Wen, Hui Guo, Dan Xu, Liang Liu, Jiada Li, Kun Xia, Faxiang Li, Ranhui Duan, Zhiheng Xu, Ling Yuan
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America; 3/19/2024, Vol. 121 Issue 12, p1-21, 33p
Autor:
Meret Wegler, Xiangbin Jia, Marielle Alders, Arjan Bouman, Jia Chen, Xinyu Duan, Julie L. Lauzon, Inge B. Mathijssen, Heinrich Sticht, Steffen Syrbe, Senwei Tan, Hui Guo, Rami Abou Jamra
Publikováno v:
Genetics in medicine, 24(8), 1761-1773. Lippincott Williams and Wilkins
Genetics in Medicine, 24(8), 1761-1773. Lippincott Williams & Wilkins
Wegler, M, Jia, X, Alders, M, Bouman, A, Chen, J, Duan, X, Lauzon, J L, Mathijssen, I B, Sticht, H, Syrbe, S, Tan, S, Guo, H & Abou Jamra, R 2022, ' De novo variants in the PABP domain of PABPC1 lead to developmental delay ', Genetics in Medicine, vol. 24, no. 8, pp. 1761-1773 . https://doi.org/10.1016/j.gim.2022.04.013
Genetics in Medicine, 24(8), 1761-1773. Lippincott Williams and Wilkins
Genetics in Medicine, 24(8), 1761-1773. Lippincott Williams & Wilkins
Wegler, M, Jia, X, Alders, M, Bouman, A, Chen, J, Duan, X, Lauzon, J L, Mathijssen, I B, Sticht, H, Syrbe, S, Tan, S, Guo, H & Abou Jamra, R 2022, ' De novo variants in the PABP domain of PABPC1 lead to developmental delay ', Genetics in Medicine, vol. 24, no. 8, pp. 1761-1773 . https://doi.org/10.1016/j.gim.2022.04.013
Genetics in Medicine, 24(8), 1761-1773. Lippincott Williams and Wilkins
Purpose: The study aimed to investigate the role of PABPC1 in developmental delay (DD). Methods: Children were examined by geneticists and pediatricians. Variants were identified using exome sequencing and standard downstream bioinformatics pipelines
Autor:
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun (Helen) Chen, Kathryn J. Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Benedicte Gerard, Emmanuelle Ginglinger, Julie Richer, Hugh McMillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A. Bernier, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G. Monaghan, Michelle M. Morrow, Evan E. Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
Publikováno v:
Science advances, 8(33):eabo7112. American Association for the Advancement of Science
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by de novo like
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d6ee0a0b2e7c1dd27774edf6d5fa7b9
https://pure.amc.nl/en/publications/de-novo-variants-in-genes-regulating-stress-granule-assembly-associate-with-neurodevelopmental-disorders(a5d812f0-5775-4504-a0d6-daa55fcbd6c9).html
https://pure.amc.nl/en/publications/de-novo-variants-in-genes-regulating-stress-granule-assembly-associate-with-neurodevelopmental-disorders(a5d812f0-5775-4504-a0d6-daa55fcbd6c9).html
Autor:
Yani He, Yuting Wang, Xiangbin Jia, Yingxue Li, Yao Yang, Lifei Pan, Rui Zhao, Yue Han, Feng Wang, Xiaoyue Guan, Tiezhou Hou
Publikováno v:
International Immunopharmacology. 119:110192
Autor:
Yingxue Li, Xiaoyue Guan, Yani He, Xiangbin Jia, Lifei Pan, Yuting Wang, Yue Han, Rui Zhao, Jianmin Yang, Tiezhou Hou
Publikováno v:
SSRN Electronic Journal.
Autor:
Guodong Chen, Lin Han, Senwei Tan, Xiangbin Jia, Huidan Wu, Yingting Quan, Qiumeng Zhang, Bin Yu, Zhengmao Hu, Kun Xia, Hui Guo
Publikováno v:
Journal of genetics and genomics = Yi chuan xue bao. 49(9)
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that cause severe social, communication, and behavioral problems. Recent studies show that the variants of a histone methyltransferase gene KMT5B cause neurodevelopmental disor
Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development
Autor:
Kun Xia, Jianjun Ou, Zhengmao Hu, Hui Guo, Jingping Zhao, Xiaoyan Ke, Lu Shen, Xiangbin Jia, Ying Li, Jieqiong Tan, Tengfei Zhu, Yanling Liu, Ting Bai, Honghui Li, Huidan Wu, Lin Han, Xiaobing Zou, Wenjing Zhao
Publikováno v:
Journal of Genetics and Genomics. 46:247-257
Excess de novo likely gene-disruptive and missense variants within dozens of genes have been identified in autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, many rare inherited missense variants of these high-risk genes
Autor:
Kun Xia, Samantha Ayres, Amber Begtrup, Danielle Karlowicz, Raphael Bernier, Ahood Alsulaiman, Frédéric Bilan, Rebecca Hernan, Elena Savva, Fowzan S. Alkuraya, Ingrid M. Wentzensen, Mohammad A. Al-Muhaizea, Audrey Labalme, Sumit Punj, Jenny Meylan Merlini, Evan E. Eichler, Lucile Letienne-Cejudo, Alexia Boizot, Natasha J Brown, Emily Bryant, Senwei Tan, Wendy K. Chung, Bin Yu, Inken Dreyer, Maria J. Guillen Sacoto, Jieqiong Tan, Hilde Peeters, Xiangbin Jia, Inge Lore Ruiz-Arana, Brina Daniels, Elizabeth A. Sellars, Linda Pons, Jianjun Ou, Rujia Dai, Guodong Chen, Gaetan Lesca, Lindsay Rhodes, Anne chun-hui Tsai, Chao Chen, Marie T. McDonald, Linda Laux, Kendra Hoekzema, Hui Guo, Christina Fagerberg, Bradley Schaefer, Huidan Wu, Rhonda E. Schnur, Qiumeng Zhang, Federico Santoni, Qian Pan, Rose B. McGee, Lucia Bartoloni, Brigitte Gilbert-Dussardier, Zhengmao Hu, Charlotte Brasch-Andersen, Dhamidhu Eratne, Valerie Slegesky, Lori A. Carpenter
Publikováno v:
Am J Hum Genet
Guo, H, Zhang, Q, Dai, R, Yu, B, Hoekzema, K, Tan, J, Tan, S, Jia, X, Chung, W K, Hernan, R, Alkuraya, F S, Alsulaiman, A, Al-Muhaizea, M A, Lesca, G, Pons, L, Labalme, A, Laux, L, Bryant, E, Brown, N J, Savva, E, Ayres, S, Eratne, D, Peeters, H, Bilan, F, Letienne-Cejudo, L, Gilbert-Dussardier, B, Ruiz-Arana, I L, Merlini, J M, Boizot, A, Bartoloni, L, Santoni, F, Karlowicz, D, McDonald, M, Wu, H, Hu, Z, Chen, G, Ou, J, Brasch-Andersen, C, Fagerberg, C R, Dreyer, I, chun-hui Tsai, A, Slegesky, V, McGee, R B, Daniels, B, Sellars, E A, Carpenter, L A, Schaefer, B, Sacoto, M J G, Begtrup, A, Schnur, R E, Punj, S, Wentzensen, I M, Rhodes, L, Pan, Q, Bernier, R A, Chen, C, Eichler, E E & Xia, K 2020, ' NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism ', American Journal of Human Genetics, vol. 107, no. 5, pp. 963-976 . https://doi.org/10.1016/j.ajhg.2020.10.002
Guo, H, Zhang, Q, Dai, R, Yu, B, Hoekzema, K, Tan, J, Tan, S, Jia, X, Chung, W K, Hernan, R, Alkuraya, F S, Alsulaiman, A, Al-Muhaizea, M A, Lesca, G, Pons, L, Labalme, A, Laux, L, Bryant, E, Brown, N J, Savva, E, Ayres, S, Eratne, D, Peeters, H, Bilan, F, Letienne-Cejudo, L, Gilbert-Dussardier, B, Ruiz-Arana, I L, Merlini, J M, Boizot, A, Bartoloni, L, Santoni, F, Karlowicz, D, McDonald, M, Wu, H, Hu, Z, Chen, G, Ou, J, Brasch-Andersen, C, Fagerberg, C R, Dreyer, I, chun-hui Tsai, A, Slegesky, V, McGee, R B, Daniels, B, Sellars, E A, Carpenter, L A, Schaefer, B, Sacoto, M J G, Begtrup, A, Schnur, R E, Punj, S, Wentzensen, I M, Rhodes, L, Pan, Q, Bernier, R A, Chen, C, Eichler, E E & Xia, K 2020, ' NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism ', American Journal of Human Genetics, vol. 107, no. 5, pp. 963-976 . https://doi.org/10.1016/j.ajhg.2020.10.002
NCKAP1/NAP1 regulates neuronal cytoskeletal dynamics and is essential for neuronal differentiation in the developing brain. Deleterious variants in NCKAP1 have been identified in individuals with autism spectrum disorder (ASD) and intellectual disabi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff727f5e121f299c8cce51056835c29
https://europepmc.org/articles/PMC7674997/
https://europepmc.org/articles/PMC7674997/