Results 101 to 110 of about 3,137,340 (284)

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

Engineering Chiroptical Interactions through Integrating Plasmonic Arrays with Cholesteric Nanocellulose

Advanced Materials, EarlyView.
In this study, we demonstrate how the combination of plant‐based cellulose and gold nanoparticle lines produces robust, tunable chiral light control in composite films. The resulting plasmonic cellulose composite exhibits a strong plasmonic CD at the surface lattice resonance, along with an inversion of chiroptical response upon reversing the ...
Han Tao, Sunghwan Jo, Guang Chu, Xiaoyu Qi, Irene Estévez, Angel Lizana, Wenyang Xu, Shengwei Deng, Agustin Mihi, Eero Kontturi   +9 more
wiley   +1 more source

Prader-Willi and Angelman Syndromes: Mechanisms and Management

The Application of Clinical Genetics, 2023
Van K Ma,1,2 Rong Mao,3,4 Jessica N Toth,3 Makenzie L Fulmer,3,4 Alena S Egense,1,2 Suma P Shankar1,2,5 1Department of Pediatrics, University of California Davis, Sacramento, CA, USA; 2MIND Institute, University of California Davis, Sacramento, CA, USA ...
Ma VK, Mao R, Toth JN, Fulmer ML, Egense AS, Shankar SP   +5 more
doaj  

Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain. [PDF]

, 2016
Angelman syndrome (AS) is a neurological genetic disorder caused by loss of expression of the maternal copy of UBE3A in the brain. Due to brain-specific genetic imprinting at this locus, the paternal UBE3A is silenced by a long antisense transcript ...
Adams, Alexa N, Bailus, Barbara J, Berman, Robert F, Lockwood, Sarah H, McAlister, Michelle M, Nguyen, Jennifer Trang T, O'Geen, Henriette, Pyles, Benjamin, Segal, David J, Yu, Abigail   +9 more
core   +1 more source

Emergent Freestanding Complex Oxide Membranes for Multifunctional Applications

Advanced Materials, EarlyView.
This review surveys freestanding oxide membranes and covers fabrication and three pathways for studies and devices: strain‐free and strained membranes, and van der Waals‐integrated heterostructures. We show how coupled oxide responses map onto these routes and cross‐couple to expand behaviors.
Baowen Li, Yanran Liu, Jinjin Liu, Josephine Si Yu See, Kaijian Xing, Dong‐Chen Qi, Xiao Renshaw Wang   +6 more
wiley   +1 more source

Prediction of gene–phenotype associations in humans, mice, and plants using phenologs [PDF]

, 2013
All authors are with the Center for Systems and Synthetic Biology, Institute for Cellular and Molecular Biology, The University of Texas at Austin, Austin, TX 78712, USA.
Laurent, Jon M., Marcotte, Edward M., McGary, Kriston L., Singh-Blom, Ulf Martin, Woods, John O.   +4 more
core   +2 more sources

Neutral‐pH Electropolymerization of Aniline on Hierarchically Porous Laser‐Induced Graphene Electrodes for Dual Biosensing

Advanced Materials Technologies, EarlyView.
Neutral‐pH electropolymerization of aniline on laser‐induced graphene (LIG) produces stable, brush‐like polyaniline coatings without requiring acidic conditions. The resulting PANI–LIG electrodes exhibit enhanced electroactive surface area, efficient charge transfer, and dual sensing capability for β‐blockers and pH, providing a scalable platform ...
Angelika Łepek, Aiswarya Manohar, Mattia Pierpaoli, Robert Bogdanowicz, Łukasz Gaweł, Mohsen Khodadadi Yazdi, Jacek Ryl   +6 more
wiley   +1 more source

Blended phenotype of TECPR2‐associated hereditary sensory‐autonomic neuropathy and Temple syndrome

Annals of Clinical and Translational Neurology
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal‐recessive diseases. We present the case of a 3‐year‐old male with a blended phenotype of TECPR2‐related hereditary sensory and autonomic neuropathy (HSAN9) and ...
Umar Zubair, Kathryn Yang, Luca Schierbaum, Amy Tam, Nicole Battaglia, Joshua Rong, Vicente Quiroz, Darius Ebrahimi‐Fakhari   +7 more
doaj   +1 more source

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement [PDF]

, 2018
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short ...
Ahmed, S.F. (Sayed), Bastepe, M. (Murat), Bufo, R. (Roberto), Choplin, T. (Timothée), de Filippo, G. (Gianpaolo), de Sanctis, L. (Luisa), Devernois, G. (Guillemette), Eggermann, T. (Thomas), Elli, F.M. (Francesca M.), Freson, K. (Kathleen), García Ramirez, A. (Aurora), Germain-Lee, E.L. (Emily L.), Groussin, L. (Lionel), Hamdy, N.A. (Neveen), Hanna, P. (Patrick), Hiort, O. (Olaf), Jüppner, H. (Harald), Kamenický, P. (Peter), Knight, N. (Nina), Kottler, M.-L. (Marie-Laure), Le Norcy, E. (Elvire), Lecumberri, B. (Beatriz), Levine, M.A. (Michael A.), Linglart, A. (Agnès), Mantovani, G. (Giovanna), Martin, R. (Regina), Martos-Moreno, G.Á. (Gabriel Ángel), Minagawa, M. (Masanori), Monk, A.B. (Alastair), Murray, P. (Philip), Mäkitie, O. (Outi), Pereda, A. (Arrate), Perez de Nanclares, G. (Guiomar), Pignolo, R. (Robert), Rejnmark, L. (Lars), Rodado, R. (Rebecca), Rothenbuhler, A. (Anya), Saraff, V. (Vrinda), Shoemaker, A.H. (Ashley H.), Shore, E.M. (Eileen M.), Silve, C. (Caroline), Thiele, S. (Susanne), Turan, S. (Serap), Usardi, A. (Alessia), Woods, P. (Philip), Zillikens, M.C. (Carola)   +45 more
core   +2 more sources

Could Edible Photonic Structures Be an Alternative to Traditional Food Coloring?

Advanced Optical Materials, EarlyView.
What if color in food came from photonic structures? This perspective introduces structural color as a potential next‐generation solution to replace conventional colorants in foods. It discusses edible photonic materials, their unique benefits, and the technological, safety, and consumer acceptance challenges that must be addressed to bring this ...
Miguel A. Cerqueira, Nicolas Vogel, Martin Lopez‐Garcia, Krassimir P. Velikov, Silvia Vignolini, Lorenzo M. Pastrana   +5 more
wiley   +1 more source