Zobrazeno 1 - 10
of 148
pro vyhledávání: '"Jinhui Ding"'
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Francis P. Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B. Makarious, Jinhui Ding, J. Raphael Gibbs, Anni Moore, Xylena Reed, Mike A. Nalls, Syed Shah, Medhat Mahmoud, Fritz J. Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-8 (2024)
Abstract Parkinson’s disease (PD) is a common neurodegenerative disorder with a significant risk proportion driven by genetics. While much progress has been made, most of the heritability remains unknown. This is in-part because previous genetic st
Externí odkaz:
https://doaj.org/article/ad275f9f7d4642cda67c724c9f061ff7
Autor:
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B. Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, J. Raphael Gibbs, Androo Markham, Mike A. Nalls, Rupesh K. Kesharwani, Fritz J. Sedlazeck, Bradford Casey, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-4 (2024)
Abstract A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and more recently, has been reported as a
Externí odkaz:
https://doaj.org/article/17599c960b3547c8b258745f95626779
Publikováno v:
Systematic Reviews, Vol 13, Iss 1, Pp 1-8 (2024)
Abstract Objective The objective of this study was to conduct a meta-analysis by synthesizing multiple literature sources to explore whether there are any differences between elastic fixation and rigid fixation in the treatment of acute tibiofibular
Externí odkaz:
https://doaj.org/article/e18a3526f1e64122a3f8a316fb1430a8
Autor:
Ece Bayram, Paolo Reho, Irene Litvan, International LBD Genomics Consortium, Jinhui Ding, J. Raphael Gibbs, Clifton L. Dalgard, Bryan J. Traynor, Sonja W. Scholz, Ruth Chia
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-9 (2024)
Abstract Sex influences the prevalence and symptoms of Lewy body dementia (LBD). However, genome-wide association studies typically focus on autosomal variants and exclude sex-specific risk factors. We addressed this gap by performing an X chromosome
Externí odkaz:
https://doaj.org/article/4b0bdd16236c46ffb7fc3ff2e86da758
Autor:
Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently developed that can identify
Externí odkaz:
https://doaj.org/article/018b5e0870b648eca3506644f3e08453
Autor:
Zhenhua Liu, Nannan Yang, Jie Dong, Wotu Tian, Lisa Chang, Jinghong Ma, Jifeng Guo, Jieqiong Tan, Ao Dong, Kaikai He, Jingheng Zhou, Resat Cinar, Junbing Wu, Armando G. Salinas, Lixin Sun, Mantosh Kumar, Breanna T. Sullivan, Braden B. Oldham, Vanessa Pitz, Mary B. Makarious, Jinhui Ding, Justin Kung, Chengsong Xie, Sarah L. Hawes, Lupeng Wang, Tao Wang, Piu Chan, Zhuohua Zhang, Weidong Le, Shengdi Chen, David M. Lovinger, Cornelis Blauwendraat, Andrew B. Singleton, Guohong Cui, Yulong Li, Huaibin Cai, Beisha Tang
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
2- arachidonoylglycerol (2-AG), an abundant endocannabinoid in the brain, regulates diverse neural functions. Here, the authors identified four loss-of-function mutations in dicylglycerol lipase β (DAGLB) from six patients with early onset Parkinson
Externí odkaz:
https://doaj.org/article/4a94e3b86d214217aab9a2b47dae2413
Autor:
Celeste Sassi, Rosa Capozzo, Monia Hammer, Chiara Zecca, Monica Federoff, Cornelis Blauwendraat, Nick Bernstein, Jinhui Ding, J. Raphael Gibbs, Timothy Price, Andrew Singleton, Giancarlo Logroscino
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Frontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a
Externí odkaz:
https://doaj.org/article/2b986c3faac94510a60bac3aec6cea4f
Autor:
Xi Chen, Chengsong Xie, Wotu Tian, Lixin Sun, Zheng Wang, Sarah Hawes, Lisa Chang, Justin Kung, Jinhui Ding, Shengdi Chen, Weidong Le, Huaibin Cai
Publikováno v:
Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-19 (2020)
Abstract Background Multiple missense mutations in Leucine-rich repeat kinase 2 (LRRK2) are associated with familial forms of late onset Parkinson’s disease (PD), the most common age-related movement disorder. The dysfunction of dopamine transmissi
Externí odkaz:
https://doaj.org/article/883d50d8c42846ed998214d776828d38
Autor:
Xylena Reed, Melanie M. Cobb, Gaia Skinbinski, Dorien Roosen, Alice Kaganovich, Jinhui Ding, Steve Finkbeiner, Mark R. Cookson
Publikováno v:
Stem Cell Research, Vol 56, Iss , Pp 102558- (2021)
Reproducibility of expression patterns in iPSC-derived cells from different labs is an important first step in ensuring replication of biochemical or functional assays that are performed in different labs. Here we show that reproducible gene expressi
Externí odkaz:
https://doaj.org/article/8b7634b0a1e4418c942e575c7b99cf21
Autor:
Kathleen Carmichael, Rebekah C. Evans, Elena Lopez, Lixin Sun, Mantosh Kumar, Jinhui Ding, Zayd M. Khaliq, Huaibin Cai
Publikováno v:
Frontiers in Neural Circuits, Vol 15 (2021)
Dopamine is an important chemical messenger in the brain, which modulates movement, reward, motivation, and memory. Different populations of neurons can produce and release dopamine in the brain and regulate different behaviors. Here we focus our dis
Externí odkaz:
https://doaj.org/article/5c7a63cf953c42c69167502c8cc9e988