Results 231 to 240 of about 5,994,934 (335)

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, EarlyView.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Associations Between Self, Peer, and Teacher Reports of Victimization and Social Skills in School in Children With Language Disorders. [PDF]

Front Psychol, 2021
Sureda-Garcia I, Valera-Pozo M, Sanchez-Azanza V, Adrover-Roig D, Aguilar-Mediavilla E.   +4 more
europepmc   +1 more source

Perspectives on Attention Deficit Hyperactivity Disorder: Executive Functions, Working Memory, and Language Disabilities

, 2004
Carol Westby, Silvana M. R. Watson
openalex   +2 more sources

A Functional Genetic Link between Distinct Developmental Language Disorders [PDF]

, 2008
Sonja C. Vernes, Dianne F. Newbury, Brett S. Abrahams, Laura Winchester, Jérôme Nicod, Matthias Groszer, Maricela Alarcón, Peter L. Oliver, Kay E. Davies, Daniel H. Geschwind, Anthony P. Monaco, Simon E. Fisher   +11 more
openalex   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells [PDF]

, 2008
Eriko Fujita, Yuko Tanabe, Akira Shiota, Masatsugu Ueda, Kiyotaka Suwa, Mariko Y. Momoi, Takashi Momoi   +6 more
openalex   +1 more source

Language Disorders in Multilingual and Multicultural Populations

Annual Review of Applied Linguistics, 2013
M. Goral, P. Conner
semanticscholar   +1 more source

USP10 Inhibits Ferroptosis via Deubiquinating POLR2A in Head and Neck Squamous Cell Carcinoma

Advanced Science, EarlyView.
This study identifies USP10 as a novel deubiquitinase that antagonizes ferroptosis in head and neck squamous cell carcinoma (HNSCC). Mechanistically, USP10 directly stabilizes POLR2A protein through post‐translational deubiquitination, enabling POLR2A‐mediated transcriptional activation of SLC7A11, a key ferroptosis inhibitor.
Diekuo Zhang, Xueying Wang, Shanhong Lu, Yan Gao, Gangcai Zhu, Guo Li, Zongnan Yu, Junwei Hou, Helei Yan, Wenhui Yuan, Xin Zhang, Mien‐Chie Hung, Zhifeng Liu, Yong Liu   +13 more
wiley   +1 more source

Impact of developmental language disorders on mental health and well-being across the lifespan: a qualitative study including the perspectives of UK adults with DLD and Australian speech-language therapists. [PDF]

BMJ Open
Wilmot A, Boyes M, Sievers R, Leitão S, Norbury C.   +4 more
europepmc   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source