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Items: 1 to 20 of 2929

1.
Cultures and cures: neurodiversity and brain organoids
Andrew J. Barnhart, Kris Dierickx
BMC Med Ethics. 2021; 22: 61. Published online 2021 May 17. doi: 10.1186/s12910-021-00627-1
PMCID:
PMC8130283
ArticlePDF–813K
2.
Association between de novo variants of nuclear-encoded mitochondrial-related genes and undiagnosed developmental disorder and autism
T Luo, J Pan, Y Zhu, X Wang, K Li, G Zhao, B Li, Z Hu, K Xia, J Li
QJM. 2024 Apr; 117(4): 269–276. Published online 2023 Nov 1. doi: 10.1093/qjmed/hcad249
PMCID:
PMC11014680
ArticlePDF–1.2M
3.
The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation
Melad Henis, Tabitha Rücker, Robin Scharrenberg, Melanie Richter, Lucas Baltussen, Shuai Hong, Durga Praveen Meka, Birgit Schwanke, Nagammal Neelagandan, Danie Daaboul, Nadeem Murtaza, Christoph Krisp, Sönke Harder, Hartmut Schlüter, Matthias Kneussel, Irm Hermans-Borgmeyer, Joris de Wit, Karun K. Singh, Kent E. Duncan, Froylan Calderón de Anda
Sci Adv. 2024 Apr 12; 10(15): eadf7001. Published online 2024 Apr 12. doi: 10.1126/sciadv.adf7001
PMCID:
PMC11014455
ArticlePDF–1.1M
4.
Dysregulation of mTOR signaling mediates common neurite and migration defects in both idiopathic and 16p11.2 deletion autism neural precursor cells
Smrithi Prem, Bharati Dev, Cynthia Peng, Monal Mehta, Rohan Alibutud, Robert J Connacher, Madeline St Thomas, Xiaofeng Zhou, Paul Matteson, Jinchuan Xing, James H Millonig, Emanuel DiCicco-Bloom
eLife. 2024; 13: e82809. Published online 2024 Mar 25. doi: 10.7554/eLife.82809
PMCID:
PMC11003747
ArticlePDF–16M
5.
Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China
Ye Jin, Miao Zhao, Qiuzhe Guo, Wanyu Zhao, Min Lei, Yifei Zhang, Yunhan zhang, Yan Shen, Keqin Lin, Zhaoqing Yang, Jiayou Chu, Hao Sun, Zhiling Luo
Ital J Pediatr. 2024; 50: 62. Published online 2024 Apr 5. doi: 10.1186/s13052-024-01630-z
PMCID:
PMC10998412
ArticlePDF–1.2M
6.
Autism spectrum disorder profiles in RASopathies: A systematic review
Edward Debbaut, Jean Steyaert, Mouna El Bakkali
Mol Genet Genomic Med. 2024 Apr; 12(4): e2428. Published online 2024 Apr 5. doi: 10.1002/mgg3.2428
PMCID:
PMC10997847
ArticlePDF–1.8M
7.
Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach
Sadhna Rao, Anastasiia Sadybekov, David C. DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E. Herring
Mol Autism. 2024; 15: 12. Published online 2024 Apr 3. doi: 10.1186/s13229-024-00590-9
PMCID:
PMC10988830
ArticlePDF–6.6M
8.
Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity
Seungwoon Seo, Seong Keun Sonn, Hyae Yon Kweon, Jing Jin, Tsutomu Kume, Je Yeong Ko, Jong Hoon Park, Goo Taeg Oh
Invest Ophthalmol Vis Sci. 2024 Mar; 65(3): 30. Published online 2024 Mar 22. doi: 10.1167/iovs.65.3.30
PMCID:
PMC10981158
ArticlePDF–20M
9.
Complex interplay of neurodevelopmental disorders (NDDs), fractures, and osteoporosis: a mendelian randomization study
Zefang Li, Xueqiang Wu, Hanzheng Li, Cong Bi, Can Zhang, Yiqing Sun, Zhaojun Yan
BMC Psychiatry. 2024; 24: 232. Published online 2024 Mar 27. doi: 10.1186/s12888-024-05693-4
PMCID:
PMC10967110
ArticlePDF–3.0M
10.
Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
Luciana Gizzo, Geraldine Bliss, Chrystal Palaty, Alexander Kolevzon
Orphanet J Rare Dis. 2024; 19: 134. Published online 2024 Mar 26. doi: 10.1186/s13023-024-03141-w
PMCID:
PMC10964611
ArticlePDF–2.1M
11.
The assessment of microbial infection in children with autism spectrum disorders and genetic folate cycle deficiency
Dmitry Maltsev, Iryna Solonko, Olena Sydorenko
BMC Pediatr. 2024; 24: 200. Published online 2024 Mar 21. doi: 10.1186/s12887-024-04687-1
PMCID:
PMC10956213
ArticlePDF–1.7M
12.
Human cytomegalovirus (CMV) dysregulates neurodevelopmental pathways in cerebral organoids
Ece Egilmezer, Stuart T. Hamilton, Charles S. P. Foster, Manfred Marschall, William D. Rawlinson
Commun Biol. 2024; 7: 340. Published online 2024 Mar 19. doi: 10.1038/s42003-024-05923-1
PMCID:
PMC10951402
ArticlePDF–2.0M
13.
Identification of miR-20b-5p as an inhibitory regulator in cardiac differentiation via TET2 and DNA hydroxymethylation
Ke-Xin Li, Jia-Ru Li, Sheng-Jia Zuo, Xudong Li, Xian-Tong Chen, Pei-Yi Xiao, Hui-Tao Li, Ling Sun, Tao Qian, Hao-Min Zhang, Dongxing Zhu, Xi-Yong Yu, Guojun Chen, Xue-Yan Jiang
Clin Epigenetics. 2024; 16: 42. Published online 2024 Mar 15. doi: 10.1186/s13148-024-01653-7
PMCID:
PMC10943922
ArticlePDF–12M
14.
Glial cells are affected more than interneurons by the loss of Engrailed 2 gene in the mouse cerebellum
Giulia Lazzarini, Alessandra Gatta, Vincenzo Miragliotta, Francesca Vaglini, Cristina Viaggi, Andrea Pirone
J Anat. 2024 Apr; 244(4): 667–675. Published online 2023 Nov 27. doi: 10.1111/joa.13982
PMCID:
PMC10941518
ArticlePDF–4.1M
15.
Differential contribution of canonical and noncanonical NLGN3 pathways to early social development and memory performance
Lin-Yu Li, Ayako Imai, Hironori Izumi, Ran Inoue, Yumie Koshidaka, Keizo Takao, Hisashi Mori, Tomoyuki Yoshida
Mol Brain. 2024; 17: 16. Published online 2024 Mar 12. doi: 10.1186/s13041-024-01087-5
PMCID:
PMC10935922
ArticlePDF–3.3M
16.
Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case–control study
Tzuyao Lo, Itaru Kushima, Hiroki Kimura, Branko Aleksic, Takashi Okada, Hidekazu Kato, Toshiya Inada, Yoshihiro Nawa, Youta Torii, Maeri Yamamoto, Ryo Kimura, Yasuko Funabiki, Hirotaka Kosaka, Shusuke Numata, Kiyoto Kasai, Tsukasa Sasaki, Shigeru Yokoyama, Toshio Munesue, Ryota Hashimoto, Yuka Yasuda, Michiko Fujimoto, Masahide Usami, Masanari Itokawa, Makoto Arai, Kazutaka Ohi, Toshiyuki Someya, Yuichiro Watanabe, Jun Egawa, Tsutomu Takahashi, Michio Suzuki, Hidenori Yamasue, Nakao Iwata, Masashi Ikeda, Norio Ozaki
Neuropsychopharmacol Rep. 2024 Mar; 44(1): 42–50. Published online 2023 Nov 1. doi: 10.1002/npr2.12370
PMCID:
PMC10932780
ArticlePDF–801K
17.
Exploratory Analysis of MicroRNA Alterations in a Neurodevelopmental Mouse Model for Autism Spectrum Disorder and Schizophrenia
Susana García-Cerro, Ana Gómez-Garrido, Gonçalo Garcia, Benedicto Crespo-Facorro, Dora Brites
Int J Mol Sci. 2024 Mar; 25(5): 2786. Published online 2024 Feb 28. doi: 10.3390/ijms25052786
PMCID:
PMC10932205
ArticlePDF–1.4M
18.
Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
Abdulfatah M. Alayoubi, Muhammad Iqbal, Hassan Aman, Jamil A. Hashmi, Laila Alayadhi, Khalid Al-Regaiey, Sulman Basit
Sci Rep. 2024; 14: 5765. Published online 2024 Mar 8. doi: 10.1038/s41598-024-56253-5
PMCID:
PMC10923806
ArticlePDF–1.2M
19.
De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam
Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Kien Trung Tran, Huong Thi Thanh Le, Kien Trung Nguyen, Linh Thi Dieu Pham, Hau Duc Le, Vinh Sy Le, Arijit Mukhopadhyay, Liem Thanh Nguyen
PLoS One. 2024; 19(3): e0290936. Published online 2024 Mar 7. doi: 10.1371/journal.pone.0290936
PMCID:
PMC10919600
ArticlePDF–1.0M
20.
Causal association of attention-deficit/hyperactivity disorder and autism spectrum disorder with post-traumatic stress disorder
Yuqing Song, Yi Zhao, Ancha Baranova, Hongbao Cao, Weihua Yue, Fuquan Zhang
Psychiatr Genet. 2024 Apr; 34(2): 37–42. Published online 2024 Jan 23. doi: 10.1097/YPG.0000000000000357
PMCID:
PMC10919267
ArticlePDF–543K

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