Results 31 to 40 of about 125,088 (254)

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  

Event-related potential alterations in fragile X syndrome [PDF]

, 2012
Fragile X Syndrome (FXS) is the most common form of X-linked intellectual disability (ID), associated with a wide range of cognitive and behavioral impairments.
Inga S. Knoth, Sarah Lippé
core   +1 more source

Comprehensive Profiling of N6‐methyladnosine (m6A) Readouts Reveals Novel m6A Readers That Regulate Human Embryonic Stem Cell Differentiation

Advanced Science, EarlyView.
This research deciphers the m6A transcriptome by profiling its sites and functional readout effects: from mRNA stability, translation to alternative splicing, across five different cell types. Machine learning model identifies novel m6A‐binding proteins DDX6 and FXR2 and novel m6A reader proteins FUBP3 and L1TD1.
Zhou Huang, Rucong Liu, Zibaguli Wubulikasimu, Wanqing Zhao, Jiaqi Huang, Jiaxuan Wang, Tianyuan Zhang, Rui Fan, Wei Kong, Qinghua Cui, Yang Li, Yuan Zhou   +11 more
wiley   +1 more source

Self-injurious behaviour in individuals with autism spectrum disorder [PDF]

, 2012
Background: Autism spectrum disorder (ASD) has been identified as a risk marker for self-injurious behaviour. In this study we aimed to describe the prevalence, topography and correlates of self-injury in individuals with ASD in contrast to individuals ...
Moss, J, Nelson, L, Oliver, C, Richards, C   +3 more
core  

Lessons from LIMK1 enzymology and their impact on inhibitor design [PDF]

, 2019
LIM domain kinase 1 (LIMK1) is a key regulator of actin dynamics. It is thereby a potential therapeutic target for the prevention of fragile X syndrome and amyotrophic lateral sclerosis.
Beltrami, A, Bullock, Alexander, Canning, P, Chaikuad, A, Chatterjee, D, Knapp, S, Knaus, P, Mathea, S, Preuss, F, Salah, E, Tumber, A   +10 more
core   +2 more sources

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

Advanced Science, EarlyView.
Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi, Mohammad Mahdi Hosseini, Ahmadreza Argha, Roxana Zahedi, Nigel H. Lovell, Hamid Alinejad‐Rokny   +5 more
wiley   +1 more source

Fragile X Syndrome: Steps towards Therapy [PDF]

, 2013
In a continuously developing society we are still confronted with intellectual disability (ID) and autism around us with quite a high prevalence. 1 in 88 children is diagnosed with autism spectrum disorder (ASD), while 2-3% of the general population is
Pop, A.S. (Andreea)
core  

Ionic–Bionic Interfaces: Advancing Iontronic Strategies for Bioelectronic Sensing and Therapy

Advanced Science, EarlyView.
Ionic–bionic interfaces for bioelectronics leverage ions as multifunctional mediators that combine mechanical compliance, ionic and electronic functionalities, and therapeutic effects. These systems offer real‐time biosignal transduction, effective wound dressing, responsive drug delivery, and seamless interaction between soft tissues and electronic ...
Yun Goo Ro, Yoojin Chang, Jeeyoon Kim, Seungjae Lee, Sangyun Na, Cheolhong Park, Hyunhyub Ko   +6 more
wiley   +1 more source

Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome [PDF]

, 2007
Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary ...
Belangero, Sintia Iole, Bellucco, Fernanda Teixeira da Silva, Brunoni, Decio, Christofolini, Denise Maria, Costa, Silvia S., Kulikowski, Leslie Domenici, Lipay, Monica Vanucci Nunes, Melaragno, Maria Isabel, Ramos, Marco Antonio P.   +8 more
core   +3 more sources

Cytokine‐Engineered Chimeric Antigen Receptor‐T Cell Therapy: How to Balance the Efficacy and Toxicity

Advanced Science, EarlyView.
Cytokine‐engineered CAR‐T cells represent a promising immunotherapy against malignancies due to direct tumor killing and potent immunity response. However, significant toxicities, including CRS and ICANS, have restricted clinical applications. How to keep the risk‐benefit balance of the advanced therapy is of great importance for maximizing the benefit
Xinru Zhang, Gulizeba Aimaiti, Yuanye Guan, Yuzhe Sha, Wei Zhou, Jiefeng Shen, Bo Zhao, Wei‐En Yuan   +7 more
wiley   +1 more source