Results 81 to 90 of about 43,167 (288)

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations

, 2015
Detailed molecular characterization of chromosomal rearrangements involving X-chromosome has been a key strategy in identifying X-linked intellectual disability-causing genes.
Meloni, Vera Ayres, Bragagnolo, Silvia, Kosyakova, Nadezda, Carvalheira, Gianna Maria, Melaragno, Maria Isabel, de Mello, Claudia Berlim, Di Battista, Adriana, Guilherme, Roberta Santos, Liehr, Thomas, Moretti-Ferreira, Danilo [UNESP], Moysés-Oliveira, Mariana   +10 more
core   +1 more source

Staff causal attributions toward sexual offenders with intellectual disabilities [PDF]

, 2009
Background: Staff working within secure services for people with intellectual disabilities (ID) are likely to work with sexual offenders, but very little attention has been paid to how they think about this sexual offending behaviour. Method: Forty-eight
Langdon, Peter E., MacKinlay, L, Mackinlay, L., Langdon, PE, L. MacKinlay, P. E. Langdon   +5 more
core   +1 more source

PRMT9 Aggravated Dopaminergic Neurodegeneration in Parkinson's Disease Model by Facilitating the Degradation of DUSP26 and Inducing Mitochondrial Dysfunction

Advanced Science, EarlyView.
In the pathological state of PD induced by MPP+, the upregulated PRMT9 in dopaminergic neurons translocates into mitochondrion and interacts with DUSP26 and catalyzes its arginine methylation, leading to the ubiquitin‐proteasomal degradation of DUSP26 mediated by Trim32.
Tengfei Liu, Xiaomeng Song, Xin Guo, Rui Xiao, Ru Sun, Qiuran Ji, Lu Yu, Yiquan Li, Qingyi Fu, Qidi Xue, Lingjun Kong, Lin Chen, Chengjiang Gao, Huiqing Liu   +13 more
wiley   +1 more source

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation

Cells
X chromosome inactivation (XCI) is a fundamental epigenetic process that balances X-linked gene expression between females and males by silencing one X chromosome in female cells. Variability or skewing of XCI can influence the clinical presentation of X-
Guibin Chen, Alexander Rodriguez-Lopez, Darawalee Wangsa, Richa Madan Lomash, Xiuli Huang, Catherine Z. Chen, Rodney A. Bowling, Neda Ghousifam, Courtney J. Banks, Kerstin A. Hurd, Jizhong Zou, Wei Zheng   +11 more
doaj   +1 more source

A Phase‐Resolved Geometric Deep Learning Framework Maps Structural Determinants of Disease‐Associated Protein Aggregation and Guides Suppressor Design

Advanced Science, EarlyView.
SKALE 2.0 maps disease‐associated protein aggregation as a phase‐resolved structural process, linking mutation‐induced geometric perturbations to nucleation, elongation, and suppressor design. Across neurodegenerative proteins, the framework reveals cryptic aggregation vulnerabilities, separates phase‐concordant and phase‐switching mutations, and ...
Jia Shen Sio, Wei Xuan Wilson Loo, Yan Shan Loo, Wen Xin Tan, Hui Xuan Lim, Huitao Liu, Chen Seng Ng   +6 more
wiley   +1 more source

Sleep, anxiety and challenging behaviour in children with intellectual disability and/or autism spectrum disorder

, 2011
Children with an intellectual disability (ID) and/or autism spectrum disorder (ASD) are known to suffer from significantly more sleep problems, anxiety and challenging behaviour (CB) than typically developing children (TD), yet little is known about the ...
Rzepecka, Halina, McClure, Iain, Karen McKenzie, Iain McClure, Halina Rzepecka, McKenzie, Karen, Murphy, Shona, Shona Murphy   +7 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Design Guidelines for Anode Modifications to Eliminate Soft Short Circuits in Anode‐Free Na Batteries Under High Current Density With Large‐Capacity Plating, Demonstrated via Initiated Chemical Vapor Deposition (iCVD)

Angewandte Chemie, EarlyView.
This work establishes a laterally homogeneous organic–inorganic hybrid interphase for soft‐short‐free anode‐free sodium metal batteries under extended cycling at high current density and high plating capacity. In contrast to conventional strategies that evolve into laterally heterogeneous interphases and induce localized Na filament growth, the pDFHA ...
Yeongjun Oh, Yuxuan Zhang, Jinwook Baek, Minyoung Kim, Jeongmin Park, Myung Gyu Lee, Chung Soo Kim, Sunghwan Lee   +7 more
wiley   +2 more sources

The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR)

, 2010
Mental retardation (MR) is a handicap with severe implications not only for thosethat suffer from this disability, but also for their families, society and the welfaresystems which support them.
Carvill, Gemma
core  

On Not Being Noticed: Intellectual Disabilities and the Nonvocal Register. [PDF]

, 2007
Gestures unaccompanied by sound risk not being registered by their intended recipient. We chart examples of this in a video recording of a meeting between people with intellectual disabilities and support staff.
W.M.L. Finlay (7188023), Simpson, Murray, C. Walton, Walton, Chris, C. Antaki, Chris Walton (7188026), Finlay, W.M.L, Antaki, Charles, Charles Antaki (1254516), W. M. L. Finlay   +9 more
core   +1 more source