Results 111 to 120 of about 62,957 (275)

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity

Epilepsia Open, EarlyView.
The impact of prompt diagnosis and treatment, and early predictors of outcome severity in this cohort. Abstract Objective To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes.
Trupti Jadhav, Sophie E. Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald‐Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A. Sandaradura, Ingrid E. Scheffer, Zornitza Stark, Katherine B. Howell   +17 more
wiley   +1 more source

Chatting While Walking Does Not Interfere with Topographical Working Memory

Brain Sciences, 2020
In the present study, we employed the dual task technique to explore the role of language in topographical working memory when landmarks are present along the path.
Laura Piccardi, Alessia Bocchi, Massimiliano Palmiero, Maddalena Boccia, Simonetta D’Amico, Raffaella Nori   +5 more
doaj   +1 more source

Formal Reduction Potential of 3,5-Difluorotyrosine in a Structured Protein: Insight into Multistep Radical Transfer [PDF]

, 2013
The reversible Y–O•/Y–OH redox properties of the α[subscript 3]Y model protein allow access to the electrochemical and thermodynamic properties of 3,5-difluorotyrosine.
Armstrong F. A., Armstrong F. A., Aubert C., Bard A. J., Berry B. W., Boguta G., Buer B. C., Cecilia Tommos, Chandler D., Chen H., Dai Q.-H., DeFelippis M. R., DeFelippis M. R., Dixon W. T., Edelhoch H., Ekberg M., Feitelson J., Gross A. J., Harriman A., Hawkins C. L., Hay S., Hay S., Hoganson C. W., JoAnne Stubbe, Kanchana R. Ravichandran, Karam L. R., Kim K., Lehrer S. S., Li Liang, Lind J., Martínez-Rivera M. C., Minnihan E. C., Minnihan E. C., Mirčeski V., Osteryoung J., Pace C. N., Pesavento R. P., Rappaport F., Rusling J. F., Salwiczek M., Santoro M. M., Savéant J. M., Seyedsayamdost M. R., Seyedsayamdost M. R., Seyedsayamdost M. R., Seyedsayamdost M. R., Shih C., Stubbe J., Tarboush N. A., Tommos C., Tommos C., Tommos C., Tsai A.-L., Uhlin U., Warren J. J., Warren J. J., Warshel A., Westerlund K., Yokoyama K., Yokoyama K.   +59 more
core   +1 more source

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

An Intrinsically Multimodal Self‐Powered Sensor Enhanced by Microstructured Powder Layer for AI‐Enabled Tactile Perception

Interdisciplinary Materials, EarlyView.
This study presents a self‐powered, intrinsically multimodal tactile sensor capable of both static and dynamic pressure sensing. Enhanced with a microstructured polytetrafluoroethylene powder layer, it enables high‐accuracy material recognition and surface texture classification, offering AI‐compatible tactile perception for robotic systems.
Kequan Xia, Song Yang, Dong Qiang, Min Yu   +3 more
wiley   +1 more source

CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation

Nature Communications
The gene therapy achieved by AAV-mediated otoferlin-overexpression is an effective therapeutic strategy for congenital deafness. However, achieving its physiological and endogenous patterns of expression remains challenging.
Hanxiao Sun, Qi Teng, Wenqing Liu, Rui Guo, Menghua Li, Wei Xiong, Qiang Huang, Qianru Yu, Nan Luo, Yang Li, Jinghui Song, Shusheng Gong, Xi Shi, Chengqi Yi, Ke Liu   +14 more
doaj   +1 more source

Embedded AI‐Enabled Wearable Piezoelectric Sensing Cluster for Real‐Time Multijoint Motion Recognition

Interdisciplinary Materials, EarlyView.
The distributed multijoint motion recognition cluster based on polyvinylidene fluoride membranes with high piezoelectric properties adopted a one‐master‐multiple‐slaves architecture and multipoint wireless collaboration to synchronously recognize motions of the wrist, elbow, and shoulder.
Zhongkun Wang, Jiagui Li, Puen Zhou, Yuanzheng Zhang, Yuhao Chen, Yonghui Wu, Yaju Zhang, Yong Qin, Haiwu Zheng   +8 more
wiley   +1 more source

Future of the Genetic Code

Life, 2017
The methods for establishing synthetic lifeforms with rewritten genetic codes comprising non-canonical amino acids (NCAA) in addition to canonical amino acids (CAA) include proteome-wide replacement of CAA, insertion through suppression of nonsense codon,
Hong Xue, J. Tze-Fei Wong
doaj   +1 more source

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. [PDF]

, 2017
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis ...
Atanasova, Velina S., Bruckner-Tuderman, Leena, Chen, Mei, Gruber, Christina, Has, Cristina, Hofbauer, Josefina Piñón, Jiang, Qiujie, McGrath, John A., Prisco, Marco, South, Andrew P., Uitto, Jouni   +10 more
core   +1 more source