Results 81 to 90 of about 1,300,694 (272)

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

open access: yesEpigenetics, 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   +9 more
doaj   +1 more source

Topological Spin‐Texture Transitions in van der Waals Magnets Revealed by X‐Ray Fourier Transform Holography

open access: yesAdvanced Materials, EarlyView.
Applied here for the first time to a 2D material, high‐resolution synchrotron x‐ray Fourier transform holography directly images topological spin textures in Fe3GeTe2. Combined with atomistic tight‐binding simulations including itinerant electrons and Rashba spin‐orbit coupling, the approach reveals labyrinth, skyrmion, and mixed phases, and uncovers ...
Sourav Chowdhury   +16 more
wiley   +1 more source

Bisphenol a exposure disrupts genomic imprinting in the mouse.

open access: yesPLoS Genetics, 2013
Exposure to endocrine disruptors is associated with developmental defects. One compound of concern, to which humans are widely exposed, is bisphenol A (BPA).
Martha Susiarjo   +3 more
doaj   +1 more source

Epitaxially Integrated Electro‐Optic KNbO3 Thin Films on Silicon

open access: yesAdvanced Materials, EarlyView.
We demonstrate the first epitaxial integration of electro‐optic KNbO3 thin films on silicon using suboxide molecular‐beam epitaxy. Combining adsorption‐controlled molecular‐beam epitaxy, advanced characterization, and phase‐field modeling, we demonstrate phase‐pure crystalline films mirroring bulk crystals with robust Pockels response, enabling future ...
Sankalpa Hazra   +17 more
wiley   +1 more source

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

open access: yesAnnals 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   +7 more
doaj   +1 more source

Giant Anisotropic Spin Absorption in Chiral Hybrid Semiconductors

open access: yesAdvanced Materials, EarlyView.
Researchers uncover that chiral hybrid organic–inorganic semiconductors absorb spin differently depending on its polarization direction. This anisotropic spin absorption is primarily driven by the local symmetry breaking within the layered structure.
Cong Yang   +12 more
wiley   +1 more source

Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells. [PDF]

open access: yesPLoS ONE, 2015
Angelman Syndrome (AS) is a devastating neurodevelopmental disorder characterized by developmental delay, speech impairment, movement disorder, sleep disorders and refractory epilepsy.
Mark D Grier   +2 more
doaj   +1 more source

Metal Compound‐Based Non‐Enzymatic Electrochemical Cholesterol Sensors: Emerging Materials and Mechanistic Insights

open access: yesAdvanced Materials Interfaces, EarlyView.
This review discusses recent progress in metal complex‐based, non‐enzymatic electrochemical sensors for cholesterol detection. We examine metal oxides, metal sulfides, and hybrid nanomaterials, highlighting their catalytic mechanisms and material design strategies.
Longfei (Jack) Yin   +6 more
wiley   +1 more source

Advanced Manufacturing of Composite‐Based Systems for Energy Applications

open access: yesAdvanced Materials Technologies, EarlyView.
Advanced manufacturing enables the integration of polymers, ceramics, metal oxides, and composites into architected microstructures with tailored transport pathways. By coupling material selection, manufacturing strategy, and structural design, multifunctional energy systems can simultaneously improve electrochemical performance, thermal management ...
Sri Vaishnavi Thummalapalli   +13 more
wiley   +1 more source

Prader-Willi and Angelman Syndromes: Mechanisms and Management

open access: yesThe 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   +5 more
doaj  

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