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想象、发现、启发:21三体研究协会第四届国际会议论文集

Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.

作者信息

Flores-Aguilar Lisi, Hamlett Eric D, Araya Paula, Barone Eugenio, Bhattacharyya Anita, Carmona-Iragui Maria, Chan Li, Christian Brad, Costa Alberto C S, Costanzo Floriana, Del Hoyo Soriano Laura, Dierssen Mara, Eichler Evan E, Fisher Elizabeth, Galbraith Matthew, Ghosh Sujay, Gimenez Sandra, Guedj Faycal, Guidi Sandra, Iulita Maria Florencia, Mobley William, Pelleri Maria Chiara, Potier Marie-Claude, Rabin Karen R, Rachubinski Angela, Rebillat Anne-Sophie, Rubenstein Eric, Saternos Hannah, Sordo Lorena, Strydom Andre, Valle-Tamayo Natalia, Waugh Katherine A, Yu Eugene, Zeldich Ella, Busciglio Jorge, Head Elizabeth

机构信息

Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA.

出版信息

Neuromolecular Med. 2025 Jan 5;27(1):5. doi: 10.1007/s12017-024-08824-y.

DOI:10.1007/s12017-024-08824-y
PMID:39756004
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11700910/
Abstract

Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal. In 2022, T21RS hosted an international conference in Long Beach, California, from June 9 to 12. The conference, attended by 483 people including scientists, families, self-advocates, and industry representatives from 17 countries, was a dynamic and interactive meeting that shared discoveries from international research teams. This summary highlights the scientific discoveries shared at the 4th T21RS meeting with the Imagine, Discover, Inspire theme.

摘要

唐氏综合征(DS)或21三体综合征(T21)在全球大量儿童和成人中存在,并且与认知和医学方面的挑战相关。通过研究,2014年成立的21三体综合征研究协会(T21RS)联合了一个全球社区,致力于了解T21对生物系统的影响,并在整个生命周期中改善唐氏综合征患者的生活质量。T21RS每两年举办一次国际会议,以支持为此目标开展的合作、传播和信息共享。2022年,T21RS于6月9日至12日在加利福尼亚州长滩举办了一次国际会议。该会议有来自17个国家的483人参加,包括科学家、患者家属、自我倡导者和行业代表,是一次充满活力的互动会议,分享了国际研究团队的发现。本总结突出了在第四届以“想象、发现、激励”为主题的T21RS会议上分享的科学发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ae0/11700910/3ea16816fb97/12017_2024_8824_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ae0/11700910/3f13720ca7d4/12017_2024_8824_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ae0/11700910/3ea16816fb97/12017_2024_8824_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ae0/11700910/3f13720ca7d4/12017_2024_8824_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ae0/11700910/3ea16816fb97/12017_2024_8824_Fig2_HTML.jpg

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Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model.干扰素受体基因座三倍体导致小鼠模型中唐氏综合征的特征。
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Modifications of the endosomal compartment in fibroblasts from sporadic Alzheimer's disease patients are associated with cognitive impairment.
散发性阿尔茨海默病患者成纤维细胞内体区室的改变与认知障碍有关。
Transl Psychiatry. 2023 Feb 14;13(1):54. doi: 10.1038/s41398-023-02355-z.
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Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.脆性 X 综合征的疾病靶向治疗转化作为神经发育障碍模型。
J Child Neurol. 2022 Oct;37(10-11):797-812. doi: 10.1177/08830738221089740. Epub 2022 Jul 5.
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Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers.使用血浆生物标志物检测唐氏综合征患者的脑 Tau 病理学。
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