Results 71 to 80 of about 36,602 (286)

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Golden, Stephanie, Han, Julia, Kimonis, Virginia, Peters, Sarika U, Waisbren, Susan   +8 more
core  

Spin‐Split Edge States in Metal‐Supported Graphene Nanoislands Obtained by CVD

Advanced Materials, EarlyView.
Combining STM measurements and ab‐initio calculations, we show that zig‐zag edges in graphene nanoislands grown on Ni(111) by CVD retrieve their spin‐polarized edge states after intercalation of a few monolayers of Au. ABSTRACT Spin‐split states localized on zigzag edges have been predicted for different free‐standing graphene nanostructures.
Michele Gastaldo, Masoud Mansouri, Carlos Garcia‐Fernandez, Daniel Sánchez‐Portal, Aran Garcia‐Lekue, Gustavo Ceballos, Aitor Mugarza   +6 more
wiley   +1 more source

Successful generation of epigenetic disease model mice by targeted demethylation of the epigenome

Genome Biology, 2020
Background Epigenetic modifications, including DNA methylation, play an important role in gene silencing and genome stability. Consequently, epigenetic dysregulation can cause several diseases, such as cancer, obesity, diabetes, autism, and imprinting ...
Takuro Horii, Sumiyo Morita, Shinjiro Hino, Mika Kimura, Yuko Hino, Hiroshi Kogo, Mitsuyoshi Nakao, Izuho Hatada   +7 more
doaj   +1 more source

A global disorder of imprinting in the human female germ line [PDF]

, 2002
Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited ...
A Kerjean, BE Hayward, BE Hayward, BE Hayward, Bruce E. Hayward, D Bourc’his, David T. Bonthron, Eamonn Sheridan, Hannah Judson, J Liu, J Liu, JS Sutcliffe, K Buiting, L Strain, M Kamiya, MN Helwani, MP Lee, NJ Smilinich, O El-Maarri, R Shemer, RA Fisher, RJ Gardner, S Engemann, SJ Clark, SK Murphy, T Kajii, T Kaneko-Ishino, T Ohta, W Reik, W Reik, YB Moglabey   +30 more
core   +1 more source

Label‐Free SERS Fingerprinting of Neuroprotein Conformational Dynamics in Human Saliva

Advanced Materials, EarlyView.
Galvanic molecular entrapment (GME) is a label‐free method for detecting and quantifying neuroprotein conformational states. This technique enables direct surface binding and in situ hotspot generation around molecules, effectively overcoming challenges related to target localization and mismatched hotspot geometries.
Muhammad Shalahuddin Al Ja'farawy, Jun‐Yeong Yang, Chaewon Mun, Seunghun Lee, Chul Bum Cho, Yoo Hyun Um, Min‐Young Lee, Sung‐Gyu Park, Dong‐Ho Kim, Seung Ho Yang, Ho Sang Jung   +10 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  

Genomic imprinting effects on complex traits in domesticated animal species

Frontiers in Genetics, 2015
Monoallelically expressed genes that exert their phenotypic effect in a parent-of-origin specific manner are considered to be subject to genomic imprinting, the most well understood form of epigenetic regulation of gene expression in mammals.
Alan eO'Doherty, David eMacHugh, Charles eSpillane, David eMagee   +3 more
doaj   +1 more source

Multifunctional Bio‐Based Packaging for Perishable Foods: Structural Design, Scalable Fabrication, and Versatile Applications

Advanced Materials, EarlyView.
An overview of design principles and scalable fabrication strategies for multifunctional bio‐based packaging. Radiative cooling films, modified‐atmosphere films/membranes, active antimicrobial/antioxidant platforms, intelligent optical/electrochemical labels, and superhydrophobic surfaces are co‐engineered from material chemistry to mesoscale structure
Lei Zhang, Jiaqi Zhang, Mei Cui, Wei Qi, Renliang Huang, Rongxin Su, Kai Zhang   +6 more
wiley   +1 more source

Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome

Epigenetics, 2021
Genomic imprinting is a rare form of gene expression in mammals in which a small number of genes are expressed in a parent-of-origin-specific manner. The aetiology of human imprinting disorders is diverse and includes chromosomal abnormalities, mutations,
Suhee Chang, Stella K. Hur, Natali S. Sobel Naveh, Joanne L. Thorvaldsen, Deborah L. French, Alyssa L Gagne, Chintan D. Jobaliya, Montserrat C. Anguera, Marisa S. Bartolomei, Jennifer M Kalish   +9 more
doaj   +1 more source

The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases [PDF]

, 2014
Copyright © 2014 Al-Mahdawi, Anjomani Virmouni and Pook. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).
Al-Mahdawi, S, Pook, MA, Virmouni, SA
core   +1 more source