Articles with "gof" as a keyword



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Room-temperature synthesis of BiOI/Graphene oxide foam composite for phenol removal under visible light

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Published in 2020 at "Applied Surface Science"

DOI: 10.1016/j.apsusc.2019.144370

Abstract: Abstract The coupling of graphene-based materials is a widely adopted method to effectively separate photo-induced electrons and holes, and consequently, improve the performance of photocatalysts. However, the surface modification of semiconductors with graphene materials can… read more here.

Keywords: bioi; graphene oxide; gof; gof bioi ... See more keywords
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Selective CO2 adsorption and H2 storage in two porous amine-pillared graphene oxide frameworks

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Published in 2019 at "Journal of Solid State Chemistry"

DOI: 10.1016/j.jssc.2019.120980

Abstract: Abstract Two porous graphene oxide frameworks (GOFs) have been synthesized by a reaction of graphene oxide (GO) and benzylamine (GOF-1) or p-xylylenediamine (GOF-2) through a solvothermal process. The structures and porosity of these two GOFs… read more here.

Keywords: graphene oxide; adsorption; storage; gof ... See more keywords
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Self-assembled benzoic acid functionalized graphene oxide sheets with zinc (II) ions: Graphene oxide framework; novel material for environmental sensing application

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Published in 2021 at "Synthetic Metals"

DOI: 10.1016/j.synthmet.2021.116754

Abstract: Abstract A framework of graphene oxide (GOF) was obtained by self-assembly of benzoic acid functionalized graphene oxide (BFG) with Zn (II) ions via coordination chemistry. The crystalline morphology of the graphene oxide framework (GOF) was… read more here.

Keywords: microscopy; electrode; gof; graphene oxide ... See more keywords
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Peripheral vascular atherosclerosis in a novel PCSK9 gain‐of‐function mutant Ossabaw miniature pig model

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Published in 2018 at "Translational Research"

DOI: 10.1016/j.trsl.2017.10.007

Abstract: &NA; Hypercholesterolemia is a major risk factor for atherosclerosis. Remaining challenges in the management of atherosclerosis necessitate development of animal models that mimic human pathophysiology. We characterized a novel mutant pig model with DNA transposition… read more here.

Keywords: gof; model; pcsk9; function ... See more keywords
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Cognitive deficits and impaired hippocampal long-term potentiation in KATP-induced DEND syndrome

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Published in 2021 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2109721118

Abstract: Significance Gain-of-function (GOF) mutations in the ATP-sensitive potassium (KATP) channel cause neonatal diabetes, with some individuals exhibiting developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome. In this study, we uncover the direct effects of neuronal… read more here.

Keywords: gof mutations; katp; katp gof; cognitive deficits ... See more keywords
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The fascinating phenotypic spectrum of SCN1A gain‐of‐function epilepsies

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Published in 2023 at "Epilepsia"

DOI: 10.1111/epi.17562

Abstract: SCN1A, long referred to as the most important epilepsy gene, continues to deliver exciting scientific surprises. It has always been associated with a broad phenotypic spectrum ranging from developmental and epileptic encephalopathies (DEEs), with Dravet… read more here.

Keywords: gof; spectrum scn1a; phenotypic spectrum; spectrum ... See more keywords
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Human KCNQ5 de novo Mutations Underlie Epilepsy and Intellectual Disability.

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Published in 2022 at "Journal of neurophysiology"

DOI: 10.1152/jn.00509.2021

Abstract: We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID) and/or epilepsy by whole-exome sequencing. These variants comprised of two nonsense and four missense alterations, were functionally characterized… read more here.

Keywords: intellectual disability; gof; human kcnq5; kcnq5 ... See more keywords
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Germline Gain-of-Function JAK3 Mutation in Familial Chronic Lymphoproliferative Disorder of NK Cells

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Published in 2020 at "Blood"

DOI: 10.1182/blood-2020-142078

Abstract: Chronic lymphoproliferative disorder of NK-cells (CLPD-NK) predominantly occurs in adults with a median age of diagnosis at 60 years. It is characterized by a persistent increase (≥2 x 109/L, for > 6 months) of mature… read more here.

Keywords: jak3; gof; disorder; chronic lymphoproliferative ... See more keywords
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Synaptic Dysfunction by Mutations in GRIN2B: Influence of Triheteromeric NMDA Receptors on Gain-of-Function and Loss-of-Function Mutant Classification

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Published in 2022 at "Brain Sciences"

DOI: 10.3390/brainsci12060789

Abstract: GRIN2B mutations are rare but often associated with patients having severe neurodevelopmental disorders with varying range of symptoms such as intellectual disability, developmental delay and epilepsy. Patient symptoms likely arise from mutations disturbing the role… read more here.

Keywords: glun2b; nmda; function; gof ... See more keywords