Abstract:
:Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Guo H,Bettella E,Marcogliese PC,Zhao R,Andrews JC,Nowakowski TJ,Gillentine MA,Hoekzema K,Wang T,Wu H,Jangam S,Liu C,Ni H,Willemsen MH,van Bon BW,Rinne T,Stevens SJC,Kleefstra T,Brunner HG,Yntema HG,Long M,Zhao Wdoi
10.1038/s41467-019-12435-8subject
Has Abstractpub_date
2019-10-15 00:00:00pages
4679issue
1issn
2041-1723pii
10.1038/s41467-019-12435-8journal_volume
10pub_type
杂志文章abstract::Microglia and peripheral monocytes contribute to hypersensitivity in rodent models of neuropathic pain. However, the precise respective function of microglia and peripheral monocytes has not been investigated in these models. To address this question, here we combined transgenic mice and pharmacological tools to speci...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms12029
更新日期:2016-06-28 00:00:00
abstract::Organolead halide perovskites have attracted substantial attention because of their excellent physical properties, which enable them to serve as the active material in emerging hybrid solid-state solar cells. Here we investigate the phototransistors based on hybrid perovskite films and provide direct evidence for thei...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms9238
更新日期:2015-09-08 00:00:00
abstract::Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have considerable autoimmune comorbidity and we therefore hypothesized that genetic susceptibility to CVID may overla...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms7804
更新日期:2015-04-20 00:00:00
abstract::Polaritons are widely investigated quasiparticles with fundamental and technological significance due to their unique properties. They have been studied most extensively in semiconductors when photons interact with various elementary excitations. However, other strongly coupled excitations demonstrate similar dynamics...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-10545-x
更新日期:2019-06-14 00:00:00
abstract::The immunogenic heat shock proteins (HSPs) gp96, hsp70 and calreticulin (CRT) bind to CD91 on antigen-presenting cells (APCs) for cross-presentation of the HSP-chaperoned peptides. This event leads to priming of T-cell responses. Here we show that CD91 serves as a signalling receptor for these HSPs, allowing for the m...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms1524
更新日期:2011-11-01 00:00:00
abstract::Nontyphoidal Salmonella (NTS) is a major cause of bacteraemia in Africa. The disease typically affects HIV-infected individuals and young children, causing substantial morbidity and mortality. Here we present a genome-wide association study (180 cases, 2677 controls) and replication analysis of NTS bacteraemia in Keny...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-017-02398-z
更新日期:2018-03-09 00:00:00
abstract::RNA silencing inhibits mRNA translation. While mRNA translation accounts for the majority of cellular energy expenditure, it is unclear if RNA silencing regulates energy homeostasis. Here, we report that hepatic Argonaute 2 (Ago2)-mediated RNA silencing regulates both intrinsic energy production and consumption and di...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-05870-6
更新日期:2018-09-10 00:00:00
abstract::Ferromagnetism is usually deemed incompatible with superconductivity. Consequently, the coexistence of superconductivity and ferromagnetism is usually observed only in elegantly designed multi-ingredient structures in which the two competing electronic states originate from separate structural components. Here we repo...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms11210
更新日期:2016-04-04 00:00:00
abstract::The temporal resolution of ultrafast electron diffraction and microscopy experiments is currently limited by the available experimental techniques for the generation and characterization of electron bunches with single femtosecond or attosecond durations. Here, we present proof of principle experiments of an optical g...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms14342
更新日期:2017-01-25 00:00:00
abstract::While main group elements have four valence orbitals accessible for bonding, quadruple bonding to main group elements is extremely rare. Here we report that main group element boron is able to form quadruple bonding interactions with iron in the BFe(CO)3- anion complex, which has been revealed by quantum chemical inve...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-12767-5
更新日期:2019-10-17 00:00:00
abstract::Ellagitannins are a family of polyphenols containing more than 1,000 natural products. Nearly 40% of these compounds contain a highly oxygenated diaryl ether that is one of the most critical elements to their structural diversity. Here, we report a unified strategy for the synthesis of highly oxygenated diaryl ethers ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms4478
更新日期:2014-03-24 00:00:00
abstract::Deformation twins are three-dimensional domains, traditionally viewed as ellipsoids because of their two-dimensional lenticular sections. In this work, we performed statistical analysis of twin shapes viewing along three orthogonal directions: the 'dark side' (DS) view along the twin shear direction (η1), the twinning...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-10573-7
更新日期:2019-07-25 00:00:00
abstract::The diversity reflected by >100 different neural cell types fundamentally contributes to brain function and a central idea is that neuronal identity can be inferred from genetic information. Recent large-scale transcriptomic assays seem to confirm this hypothesis, but a lack of morphological information has limited th...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-20328-4
更新日期:2021-01-04 00:00:00
abstract::In Drosophila melanogaster the single male chromosome X undergoes an average twofold transcriptional upregulation for balancing the transcriptional output between sexes. Previous literature hypothesised that a global change in chromosome structure may accompany this process. However, recent studies based on Hi-C faile...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-13350-8
更新日期:2019-11-25 00:00:00
abstract::Ensuring that one gene's transcription does not inappropriately affect the expression of its neighbors is a fundamental challenge to gene regulation in a genomic context. In plants, which lack homologs of animal insulator proteins, the mechanisms that prevent transcriptional interference are not well understood. Here ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-12328-w
更新日期:2019-09-25 00:00:00
abstract::Medulloblastoma (MB) is the most common malignant brain tumor in children and among the subtypes, Group 3 MB has the worst outcome. Here, we perform an in vivo, patient-specific screen leading to the identification of Otx2 and c-MYC as strong Group 3 MB inducers. We validated our findings in human cerebellar organoids...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-13989-3
更新日期:2020-01-29 00:00:00
abstract::Epilepsy is one of the most common neurological disorders, yet its pathophysiology is poorly understood due to the high complexity of affected neuronal circuits. To identify dysfunctional neuronal subtypes underlying seizure activity in the human brain, we have performed single-nucleus transcriptomics analysis of >110...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-18752-7
更新日期:2020-10-07 00:00:00
abstract::Studies on vesicle formation by the Coat Protein I (COPI) complex have contributed to a basic understanding of how vesicular transport is initiated. Phosphatidic acid (PA) and diacylglycerol (DAG) have been found previously to be required for the fission stage of COPI vesicle formation. Here, we find that PA with vary...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-11324-4
更新日期:2019-07-30 00:00:00
abstract::Kaposi's sarcoma-associated herpesvirus (KSHV) and Epstein-Barr Virus (EBV) establish life-long infections and are associated with malignancies. Striking geographic variation in incidence and the fact that virus alone is insufficient to cause disease, suggests other co-factors are involved. Here we present epidemiolog...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-17696-2
更新日期:2020-07-31 00:00:00
abstract::Plasmodium parasites possess a translocon that exports parasite proteins into the infected erythrocyte. Although the translocon components are also expressed during the mosquito and liver stage of infection, their function remains unexplored. Here, using a combination of genetic and chemical assays, we show that the t...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-19492-4
更新日期:2020-11-06 00:00:00
abstract::A key challenge in the field of molecular spintronics, and for the design of single-molecule magnet-based devices in particular, is the understanding and control of the molecular coupling at the electrode interfaces. It was demonstrated for the field of molecular electronics that the characterization of the molecule-m...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms1953
更新日期:2012-07-17 00:00:00
abstract::Most biochemical reactions in living cells rely on diffusive search for target molecules or regions in a heterogeneous overcrowded cytoplasmic medium. Rapid rearrangements of the medium constantly change the effective diffusivity felt locally by a diffusing particle and thus impact the distribution of the first-passag...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-018-06610-6
更新日期:2018-10-23 00:00:00
abstract::Th9 cells protect hosts against helminthic infection but also mediate allergic disease. Here we show that nitric oxide (NO) promotes Th9 cell polarization of murine and human CD4(+) T cells. NO de-represses the tumour suppressor gene p53 via nitrosylation of Mdm2. NO also increases p53-mediated IL-2 production, STAT5 ...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms5575
更新日期:2014-08-07 00:00:00
abstract::Cellular events that occur across the seminiferous epithelium in the mammalian testis during spermatogenesis are tightly coordinated by biologically active peptides released from laminin chains. Laminin-γ3 domain IV is released at the apical ectoplasmic specialization during spermiation and mediates restructuring of t...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms2171
更新日期:2012-01-01 00:00:00
abstract::The high pathogenicity of the Ebola virus reflects multiple concurrent processes on infection. Among other important determinants, Ebola fusogenic glycoprotein (GP) has been associated with the detachment of infected cells and eventually leads to vascular leakage and haemorrhagic fever. Here we report that the membran...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms8688
更新日期:2015-07-09 00:00:00
abstract::Innovations in soft material synthesis and fabrication technologies have led to the development of integrated soft electronic devices. Such soft devices offer opportunities to interact with biological cells, mimicking their soft environment. However, existing fabrication technologies cannot create the submicron-scale,...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-020-14814-y
更新日期:2020-02-21 00:00:00
abstract::The original version of this Article contained an error in Eq. 1. The arrows between the symbols "T" and "B", and "B" and "T", were written "↔" but should have been "→", and incorrectly read: IEBIC=IEBAC+ISEE+I(e↔h)+IEBICT↔B+IESEEB↔T The correct from of the Eq. 1 is as follows:IEBIC=IEBAC+ISEE+I(e↔h)+IEBICT→B+IESEEB→T...
journal_title:Nature communications
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41467-018-02844-6
更新日期:2018-01-24 00:00:00
abstract::Cavity quantum electrodynamics describes the fundamental interactions between light and matter, and how they can be controlled by shaping the local environment. For example, optical microcavities allow high-efficiency detection and manipulation of single atoms. In this regime, fluctuations of atom number are on the or...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms1428
更新日期:2011-08-09 00:00:00
abstract::Accurate estimates of the BOLD hemodynamic response function (HRF) are crucial for the interpretation and analysis of event-related functional MRI data. To date, however, there have been no comprehensive measurements of the HRF in white matter (WM) despite increasing evidence that BOLD signals in WM change after a sti...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/s41467-019-09076-2
更新日期:2019-03-08 00:00:00
abstract::Semiconducting two-dimensional transition metal dichalcogenides are emerging as top candidates for post-silicon electronics. While most of them exhibit isotropic behaviour, lowering the lattice symmetry could induce anisotropic properties, which are both scientifically interesting and potentially useful. Here we prese...
journal_title:Nature communications
pub_type: 杂志文章
doi:10.1038/ncomms7991
更新日期:2015-05-07 00:00:00