Nature Search

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Evan Eichler and colleagues identify a recurrent microdeletion on 16p12.1 associated with developmental, cognitive and neuropsychiatric phenotypes. They also show that more severe phenotypes are frequently correlated with the presence of a second large genomic rearrangement, supporting a complex model of pathogenesis that may underlie the variable expressivity typical of many microdeletion syndromes.

Santhosh Girirajan
Jill A Rosenfeld
Evan E Eichler
Research14 Feb 2010
Nature Genetics

Volume: 42, P: 203-209
Silencing of LINE-1 retrotransposons is a selective dependency of myeloid leukemia

MPHOSPH8 loss inhibits acute myeloid leukemia (AML) development by reactivating LINE-1 retrotransposons. LINE-1 suppression is associated with therapy resistance and poor prognosis in patients with AML.

Zhimin Gu
Yuxuan Liu
Jian Xu
Research08 Apr 2021
Nature Genetics

Volume: 53, P: 672-682
Immune resilience despite inflammatory stress promotes longevity and favorable health outcomes including resistance to infection

The response to infectious and inflammatory challenges differs among people but the reasons for this are poorly understood. Here the authors explore the impact of variables such as age, sex, and the capacity for controlling inflammation and maintaining immunocompetence, linking this capacity to favourable health outcomes and lifespan.

Sunil K. Ahuja
Muthu Saravanan Manoharan
Weijing He
ResearchOpen Access13 Jun 2023
Nature Communications

Volume: 14, P: 1-31
Convergence of oncogenic cooperation at single-cell and single-gene levels drives leukemic transformation

Identifying how genetic alterations cooperate in cancer is challenging. Here the authors analyze leukemia mouse models with both oncogenic NRAS and EZH2 mutations using single-cell RNA-sequencing, evaluate oncogenic cooperation, and identify GEM as a regulator of leukemia-initiating cells.

Yuxuan Liu
Zhimin Gu
Jian Xu
ResearchOpen Access03 Nov 2021
Nature Communications

Volume: 12, P: 1-17
Interrogation of enhancer function by enhancer-targeting CRISPR epigenetic editing

Tissues-specific gene expression requires coordinated cis-regulatory elements. Here the authors use dCas9-based enhancer targeting to remodel local epigenetic landscapes and activate or inactive transcription.

Kailong Li
Yuxuan Liu
Jian Xu
ResearchOpen Access24 Jan 2020
Nature Communications

Volume: 11, P: 1-16
Quantifying and comparing radiation damage in the Protein Data Bank

Radiation damage hampers protein structure determination by X-ray crystallography. Here, the AUs introduce the B_net metric, a single value summarising the extent of radiation damage of a protein crystal structure, and use B_net to detect radiation damage in structures deposited in the Protein Data Bank.

Kathryn L. Shelley
Elspeth F. Garman
ResearchOpen Access14 Mar 2022
Nature Communications

Volume: 13, P: 1-11
Regulation of mitochondrial biogenesis in erythropoiesis by mTORC1-mediated protein translation

Two papers by Liu et al. and Ansó et al. study the post-transcriptional regulation of mitochondrial factors in erythropoiesis and the role of RISP-mediated mitochondrial respiration in fetal and adult HSC function via metabolites and epigenetic changes.

Xin Liu
Yuannyu Zhang
Jian Xu
Research15 May 2017
Nature Cell Biology

Volume: 19, P: 626-638
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879

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