Nature Search

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
ResearchOpen Access01 Oct 2020
Nature Communications

Volume: 11, P: 1-13
Domain-specific p53 mutants activate EGFR by distinct mechanisms exposing tissue-independent therapeutic vulnerabilities

Here the authors identify distinct mechanisms by which domain-specific p53 mutations activate cancer cell growth via the epidermal growth factor receptor (EGFR). These mechanisms affect sensitivity to EGFR inhibitors, opening avenues for targeted therapy.

Teresa Lai Fong Ho
May Yin Lee
Ashok R. Venkitaraman
ResearchOpen Access28 Mar 2023
Nature Communications

Volume: 14, P: 1-18
De novo genic mutations among a Chinese autism spectrum disorder cohort

Recurrent sporadic mutations are important risk factors for autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, Eichler, Xia and colleagues analyse risk genes in a large Chinese ASD cohort and find novel recurrences of potential pathogenic significance.

Tianyun Wang
Hui Guo
Evan E. Eichler
ResearchOpen Access08 Nov 2016
Nature Communications

Volume: 7, P: 1-10
Manipulating the symmetry of photon-dressed electronic states

Strong light-matter interaction provides opportunities for engineering electronic symmetry on an ultrafast timescale by forming photon-dressed states called Floquet-Bloch states. Here, the authors observe parity manipulation of Floquet-Bloch states by light fields in a model semiconductor - black phosphorus.

Changhua Bao
Michael Schüler
Shuyun Zhou
ResearchOpen Access03 Dec 2024
Nature Communications

Volume: 15, P: 1-10
A deep learning framework to predict binding preference of RNA constituents on protein surface

Interactions between proteins and RNA are an important mechanism for post-transcriptional regulation, but predicting these interactions is difficult. Through a deep learning approach, here the authors predict RNA-binding sites and binding preference based on the local physicochemical properties of the protein surface.

Jordy Homing Lam
Yu Li
Xin Gao
ResearchOpen Access30 Oct 2019
Nature Communications

Volume: 10, P: 1-13
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Evan Eichler and colleagues use single-molecule molecular-inversion probes to sequence the coding and splicing regions of 208 candidate genes in more than 11,730 individuals with neurodevelopmental disorders. They report 91 genes with an excess of de novo or private disruptive mutations, identify 25 genes showing a bias for autism versus intellectual disability, and highlight a network associated with high-functioning autism.

Holly A F Stessman
Bo Xiong
Evan E Eichler
Research13 Feb 2017
Nature Genetics

Volume: 49, P: 515-526
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
Amendments and CorrectionsOpen Access21 Oct 2020
Nature Communications

Volume: 11, P: 1
Evolution of the flat band and the role of lattice relaxations in twisted bilayer graphene

By combining nano-spot angle-resolved photoemission spectroscopy and atomic force microscopy, the authors resolve the fine electronic structure of the flat band and remote bands of twisted bilayer graphene as the twist angle varies, revealing a spectral weight transfer between remote bands that is attributed to lattice relaxations.

Qian Li
Hongyun Zhang
Shuyun Zhou
Research24 Apr 2024
Nature Materials

Volume: 23, P: 1070-1076
Pseudospin-selective Floquet band engineering in black phosphorus

In black phosphorus, a model semiconductor, analysis of time and angle-resolved photoemission spectroscopy measurements demonstrates a strong light-induced band renormalization with light polarization dependence, suggesting pseudospin-selective Floquet band engineering.

Shaohua Zhou
Changhua Bao
Shuyun Zhou
Research01 Feb 2023
Nature

Volume: 614, P: 75-80
Low-input lipidomics reveals lipid metabolism remodelling during early mammalian embryo development

Using low-input lipidomics in mouse and human embryos, Zhang, Shui, Li and colleagues find that lipid unsaturation increases with development towards the blastocyst stage. They further show that lipid desaturases contribute to successful embryo implantation.

Ling Zhang
Jing Zhao
Jin Zhang
Research01 Feb 2024
Nature Cell Biology

Volume: 26, P: 278-293
METTL8 links mt-tRNA m³C modification to the HIF1α/RTK/Akt axis to sustain GBM stemness and tumorigenicity

Bernice Woon Li Lee
You Heng Chuah
Derrick Sek Tong Ong
ResearchOpen Access14 May 2024
Cell Death & Disease

Volume: 15, P: 1-13
Author Correction: METTL8 links mt-tRNA m³C modification to the HIF1α/RTK/Akt axis to sustain GBM stemness and tumorigenicity

Bernice Woon Li Lee
You Heng Chuah
Derrick Sek Tong Ong
Amendments and CorrectionsOpen Access31 Jul 2024
Cell Death & Disease

Volume: 15, P: 1-5
Synergism of cytoplasmic kinases in IL6-induced ligand-independent activation of androgen receptor in prostate cancer cells

Oekyung Kim
Tianyun Jiang
Yun Qiu
Research23 Feb 2004
Oncogene

Volume: 23, P: 1838-1844
CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma

You Heng Chuah
Emmy Xue Yun Tay
Derrick Sek Tong Ong
ResearchOpen Access19 Jul 2023
Cell Death & Differentiation

Volume: 30, P: 1973-1987
KOPI: Kinase inhibitOr Proteome Impact analysis

Ginny Xiaohe Li
Tianyun Zhao
Radoslaw M. Sobota
ResearchOpen Access29 Jul 2022
Scientific Reports

Volume: 12, P: 1-8
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders

Jinchen Li
Lin Wang
Kun Xia
Research25 Jul 2017
Molecular Psychiatry

Volume: 22, P: 1282-1290

Search

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Domain-specific p53 mutants activate EGFR by distinct mechanisms exposing tissue-independent therapeutic vulnerabilities

De novo genic mutations among a Chinese autism spectrum disorder cohort

Manipulating the symmetry of photon-dressed electronic states

A deep learning framework to predict binding preference of RNA constituents on protein surface

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Evolution of the flat band and the role of lattice relaxations in twisted bilayer graphene

Pseudospin-selective Floquet band engineering in black phosphorus

Low-input lipidomics reveals lipid metabolism remodelling during early mammalian embryo development

METTL8 links mt-tRNA m³C modification to the HIF1α/RTK/Akt axis to sustain GBM stemness and tumorigenicity

Author Correction: METTL8 links mt-tRNA m³C modification to the HIF1α/RTK/Akt axis to sustain GBM stemness and tumorigenicity

Synergism of cytoplasmic kinases in IL6-induced ligand-independent activation of androgen receptor in prostate cancer cells

CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma

KOPI: Kinase inhibitOr Proteome Impact analysis

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders

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