Results 21 to 30 of about 103,930 (219)

Supramolecular Recognition of a DNA Four‐Way Junction by an M2L4 Metallo‐Cage, Inspired by a Simulation‐Guided Design Approach

Angewandte Chemie, EarlyView.
DNA Holliday junctions, or four‐way junctions (4WJs) are an attractive therapeutic target due to their prevalence in DNA replication and repair, and viral disease. Combining experimental and computational methods, we show that quadruple‐stranded dinuclear platinum metallo‐cages are an excellent size and shape match for the cavity of the 4WJ open ...
Samuel J. Dettmer, Hugo D. Williams, Richard Napier, Joseph M. Beames, Steffan Walker‑Griffiths, Timothy D. Craggs, Michael J. Hannon   +6 more
wiley   +2 more sources

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]

, 2015
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J, Bui, Quang M, Francis, David, Godler, David E, Hagerman, Randi J, Herlihy, Amy S, Hopper, John L, Inaba, Yoshimi, Li, Xin, Metcalfe, Sylvia A, Schwartz, Charles E, Shi, Elva Z, Skinner, Cindy, Slater, Howard R   +13 more
core   +2 more sources

Developmental trajectory of communication repair in children with Fragile X Syndrome [PDF]

, 2020
This work is licensed under a Creative Commons Attribution 4.0 International License.Background and aims The development of communicative competence requires both language and social skills.
Brady, Nancy C., Fielding-Gebhardt, Heather, Warren, Steven F.   +2 more
core   +1 more source

Aging in fragile X syndrome [PDF]

Journal of Neurodevelopmental Disorders, 2010
Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women ...
Maureen A. Leehey, Evan Adams, Antoniya Boyd, Nicole Tartaglia, Louise W. Gane, Lily Ngotran, Flora Tassone, Agustini Utari, Agustini Utari, Randi J Hagerman, Felicia A. Scaggs, Alyssa Chavez, Elizabeth Berry-Kravis, David R Hessl   +13 more
openaire   +5 more sources

Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome [PDF]

, 2008
Fragile X syndrome, caused by the loss of FMR1 gene function and loss of fragile X mental retardation protein (FMRP), is the most commonly inherited form of mental retardation.
Bochorishvili, G., Hu, H. L., Qin, Y., Van Aelst, L., Zhu, J. J., Zhu, Y. H.   +5 more
core   +1 more source

Rational Design of Inner Ear Drug Delivery Systems

Advanced Science, EarlyView.
Hearing loss is a common disease affecting many people, and inner ear lesions are one of the most important causes. This review focuses on the treatment of inner ear hearing loss by drug delivery systems. It includes the current methods and technologies developed, and it predicts possible directions.
Xiayidan Maimaitikelimu, Zhiyan Xuan, Haoyu Ren, Keng Chen, Hui Zhang, Huan Wang   +5 more
wiley   +1 more source

Genetics‐Based Targeting Strategies for Precise Neuromodulation

Advanced Science, EarlyView.
In this Review, the fundamental principles and implementation protocols of genetics‐based precision neuromodulation are first introduced. Then, wireless and low‐invasive strategies based on nano‐transducing materials are highlighted, along with a dissection and analysis of the strengths and weaknesses of representative studies.
Yuyuan He, Zhidong Wei, Jianda Xu, Fei Jin, Tong Li, Lili Qian, Juan Ma, Weiying Zheng, Negar Javanmardi, Ting Wang, Kangjian Sun, Zhang‐Qi Feng   +11 more
wiley   +1 more source

Deteksi Sindrom Fragile X dengan Pemeriksaan Sitogenetik dan PCR Pada Siswa SLB Hj. Soemiyati Himawan Semarang [PDF]

, 2010
Background: Mental retardation is a condition in which the intellectual function is significantly below the average and accompanied by limitation in adaptive behavior.
Kartika, Nurdita
core  

Autism in fragile X syndrome; a functional MRI study of facial emotion-processing [PDF]

, 2019
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, and among those with fragile X syndrome, approximately 1/3rd meet a threshold for an autism spectrum disorder (ASD) diagnosis.
Campbell, Sonya, Eley, Sarah, McKechanie, Andrew, Stanfield, Andrew   +3 more
core   +1 more source

Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine

Advanced Science, EarlyView.
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang, Feng Gao, Liqun Yu, Haokun Chen, Rongrong Zhu   +4 more
wiley   +1 more source