Abstract：
:Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Snijders Blok L,Rousseau J,Twist J,Ehresmann S,Takaku M,Venselaar H,Rodan LH,Nowak CB,Douglas J,Swoboda KJ,Steeves MA,Sahai I,Stumpel CTRM,Stegmann APA,Wheeler P,Willing M,Fiala E,Kochhar A,Gibson WT,Cohen ASA,Agbdoi
10.1038/s41467-018-06014-6subject
Has Abstractpub_date
2018-11-05 00:00:00pages
4619issue
1issn
2041-1723pii
10.1038/s41467-018-06014-6journal_volume
9pub_type
杂志文章abstract：:Zeolite catalysis is determined by a combination of pore architecture and Brønsted acidity. As Brønsted acid sites are formed by the substitution of AlO4 for SiO4 tetrahedra, it is of utmost importance to have information on the number as well as the location and neighbouring sites of framework aluminium. Unfortunatel...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms8589
更新日期：2015-07-02 00:00:00
abstract：:Exocytic transmitter release is regulated by the SNARE complex, which contains a vesicular protein, synaptobrevin2 (Sb2). However, Sb2 vesicular arrangement is unclear. Here we use super-resolution fluorescence microscopy to study the prevalence and distribution of endogenous and exogenous Sb2 in single vesicles of as...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms4780
更新日期：2014-05-07 00:00:00
abstract：:Whether and how fracture mechanics needs to be modified for small length scales and in systems of reduced dimensionality remains an open debate. Here, employing in situ transmission electron microscopy, atomic structures and dislocation dynamics in the crack tip zone of a propagating crack in two-dimensional (2D) mono...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms14116
更新日期：2017-01-18 00:00:00
abstract：:New capabilities at X-ray free-electron laser facilities allow the generation of two-colour femtosecond X-ray pulses, opening the possibility of performing ultrafast studies of X-ray-induced phenomena. Particularly, the experimental realization of hetero-site-specific X-ray-pump/X-ray-probe spectroscopy is of special ...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms11652
更新日期：2016-05-23 00:00:00
abstract：:Aortic dissection and intramural haematoma comprise an aortopathy involving separation of the aortic wall. Underlying mechanisms of the condition remain unclear. Here we show that granulocyte macrophage colony-stimulating factor (GM-CSF) is a triggering molecule for this condition. Transcription factor Krüppel-like fa...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms7994
更新日期：2015-04-29 00:00:00
abstract：:The growing demand for lithium batteries with higher energy densities requires new electrode chemistries. Lithium metal is a promising candidate as the anode material due to its high theoretical specific capacity, negative electrochemical potential and favorable density. However, during cycling, low and uneven lithium...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-019-12952-6
更新日期：2019-10-31 00:00:00
abstract：:Bipolaron states, in which two electrons or two holes occupy a single molecule or conjugated polymer segment, are typically considered to be negligible in organic semiconductor devices due to Coulomb repulsion between the two charges. Here we use charge modulation spectroscopy to reveal a bipolaron sheet density >1010...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-017-02459-3
更新日期：2017-12-21 00:00:00
abstract：:White light-emitting diodes (WLEDs) are candidates to revolutionize the lighting industry towards energy efficient and environmental friendly lighting and displays. The current challenges in WLEDs encompass high luminous efficiency, chromatic stability, high colour-rending index and price competitiveness. Recently, th...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms6702
更新日期：2014-12-08 00:00:00
abstract：:The advent of super-resolution imaging (SRI) has created a need for optimized labelling strategies. We present a new method relying on fluorophore-conjugated monomeric streptavidin (mSA) to label membrane proteins carrying a short, enzymatically biotinylated tag, compatible with SRI techniques including uPAINT, STED a...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms10773
更新日期：2016-03-16 00:00:00
abstract：:Synaptic function is affected in many brain diseases and disorders. Technologies for large-scale synapse assays can facilitate identification of drug leads. Here we report a 'synapse microarray' technology that enables ultra-sensitive, high-throughput and quantitative screening of synaptogenesis. Our platform enables ...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms1518
更新日期：2011-10-25 00:00:00
abstract：:Energy affects every single individual and entity in the world. Therefore, it is crucial to precisely quantify the "price of energy" and study how it evolves through time, through major political and social events, and through changes in energy and monetary policies. Here, we develop a predictive framework, an index t...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-020-20203-2
更新日期：2021-01-04 00:00:00
abstract：:Self-repairable materials strive to emulate curable and resilient biological tissue; however, their performance is currently insufficient for commercialization purposes because mending and toughening are mutually exclusive. Herein, we report a carbonate-type thermoplastic polyurethane elastomer that self-heals at 35 °...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-021-20931-z
更新日期：2021-01-27 00:00:00
abstract：:Solitary chemosensory cells (SCCs) are epithelial sentinels that utilize bitter Tas2r receptors and coupled taste transduction elements to detect pathogenic bacterial metabolites, triggering host defenses to control the infection. Here we report that SCCs are present in mouse gingival junctional epithelium, where they...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-019-12505-x
更新日期：2019-10-03 00:00:00
abstract：:An essential issue in the development of materials presenting an accurately functionalized surface is to achieve control of layer structuring. Whereas the very popular method based on the spontaneous adsorption of alkanethiols on metal faces stability problems, the reductive electrografting of aryldiazonium salts yiel...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms2121
更新日期：2012-01-01 00:00:00
abstract：:Quantum dots (QDs) are an excellent single-photon source that can be combined with a spin quantum memory. Many quantum technologies require increased control over the characteristics of emitted photons. A powerful approach is to trigger coherent Raman photons from QDs with a Λ energy-level system, such as the spin sin...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-017-02552-7
更新日期：2018-01-09 00:00:00
abstract：:Pattern-triggered immunity and effector-triggered immunity are two primary forms of innate immunity in land plants. The molecular components and connecting nodes of pattern-triggered immunity and effector-triggered immunity are not fully understood. Here, we report that the Arabidopsis calcium-dependent protein kinase...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-020-20007-4
更新日期：2020-12-04 00:00:00
abstract：:Kevin J. Cao and Richard H. Kramer, who developed extended release with beta cyclodextrin, were inadvertently omitted from the author list and author contributions section of this Article. These errors have now been corrected in both the PDF and HTML versions of the Article. ...
journal_title：Nature communications
pub_type： 杂志文章,已发布勘误
doi：10.1038/s41467-018-03585-2
更新日期：2018-03-13 00:00:00
abstract：:Epilepsy is a common brain disorder throughout history. Epilepsy-related ligand-receptor complex, LGI1-ADAM22, regulates synaptic transmission and has emerged as a determinant of brain excitability, as their mutations and acquired LGI1 autoantibodies cause epileptic disorders in human. Here, we report the crystal stru...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-018-03947-w
更新日期：2018-04-18 00:00:00
abstract：:The European steppes and their biota have been hypothesized to be either young remnants of the Pleistocene steppe belt or, alternatively, to represent relicts of long-term persisting populations; both scenarios directly bear on nature conservation priorities. Here, we evaluate the conservation value of threatened disj...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-020-15620-2
更新日期：2020-04-23 00:00:00
abstract：:Extrachromosomal telomeric circles are commonly invoked as important players in telomere maintenance, but their origin has remained elusive. Using electron microscopy analysis on purified telomeres we show that, apart from known structures, telomeric repeats accumulate internal loops (i-loops) that occur in the proxim...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-020-19139-4
更新日期：2020-10-20 00:00:00
abstract：:Thin-film transistor (TFT)-driven full-color organic light-emitting diodes (OLEDs) with vertically stacked structures are developed herein using photolithography processes, which allow for high-resolution displays of over 2,000 pixels per inch. Vertical stacking of OLEDs by the photolithography process is technically ...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-020-16551-8
更新日期：2020-06-01 00:00:00
abstract：:Coordination of ciliary beating is essential to ensure mucus clearance in the airway tract. The orientation and synchronization of ciliary motion responds in part to the organization of the underlying cytoskeletal networks. Using electron tomography on mouse trachea, we show that basal bodies are collectively hooked a...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms5888
更新日期：2014-09-12 00:00:00
abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...
journal_title：Nature communications
pub_type： 杂志文章,已发布勘误
doi：10.1038/s41467-020-18712-1
更新日期：2020-09-16 00:00:00
abstract：:Influenza is a leading cause of respiratory mortality and morbidity. While inflammation is essential for fighting infection, a balance of anti-viral defense and host tolerance is necessary for recovery. Circadian rhythms have been shown to modulate inflammation. However, the importance of diurnal variability in the ti...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-019-11400-9
更新日期：2019-09-11 00:00:00
abstract：:Solid organic matter (OM) plays an essential role in the generation, migration, storage, and production of hydrocarbons from economically important shale rock formations. Electron microscopy images have documented spatial heterogeneity in the porosity of OM at nanoscale, and bulk spectroscopy measurements have documen...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-017-02254-0
更新日期：2017-12-19 00:00:00
abstract：:MADS-domain transcription factors have been shown to act as key repressors or activators of the transition to flowering and as master regulators of reproductive organ identities. Despite their important roles in plant development, the origin of several MADS-box subfamilies has remained enigmatic so far. Here we demons...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms3280
更新日期：2013-01-01 00:00:00
abstract：:Toll-like receptor 7 (TLR7) senses microbial-derived RNA but can also potentially respond to self-derived RNA. To prevent autoimmune responses, TLR7 is thought to localize in endolysosomes. Contrary to this view, we show here that TLR7 is present on the cell surface of immune cells and that TLR7 responses can be inhib...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms7119
更新日期：2015-02-04 00:00:00
abstract：:NHE9 (SLC9A9) is an endosomal cation/proton antiporter with orthologues in yeast and bacteria. Rare, missense substitutions in NHE9 are genetically linked with autism but have not been functionally evaluated. Here we use evolutionary conservation analysis to build a model structure of NHE9 based on the crystal structu...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms3510
更新日期：2013-01-01 00:00:00
abstract：:Understanding the formation chemistry of metal halide perovskites is key to optimizing processing conditions and realizing enhanced optoelectronic properties. Here, we reveal the structure of the crystalline precursor in the formation of methylammonium lead iodide (MAPbI3) from the single-step deposition of lead chlor...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/s41467-018-05937-4
更新日期：2018-08-27 00:00:00
abstract：:Transient precursor states are often experimentally observed for molecules adsorbing on surfaces. However, such precursor states are typically rather short-lived, quickly yielding to more stable adsorption configurations. Here we employ first-principles calculations to systematically explore the interaction mechanism ...
journal_title：Nature communications
pub_type： 杂志文章
doi：10.1038/ncomms3569
更新日期：2013-01-01 00:00:00
