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Suppression of Huntington’s Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding

Somatic instability plays a role in Huntington’s disease. Here, the authors show that lowering HTT levels by transcriptional repression suppresses somatic instability. This can also be done without affecting HTT levels by direct CAG repeat binding.

Ella W. Mathews
Sydney R. Coffey
Jeffrey B. Carroll
ResearchOpen Access14 Nov 2025
Nature Communications

Volume: 16, P: 1-13
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

Zika virus (ZIKV) infection can cause congenital Zika syndrome (CZS), but the underlying mechanisms are poorly understood. Here, the authors generate neural progenitor cells from dizygotic twins with a discordant phenotype regarding CZS and study their response to ZIKV infection.

Luiz Carlos Caires-Júnior
Ernesto Goulart
Mayana Zatz
ResearchOpen Access02 Feb 2018
Nature Communications

Volume: 9, P: 1-11
Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

Genome-wide association analyses of two oral glucose tolerance test-derived measures of postprandial insulin resistance discover ten new loci. Functional characterization identifies nine candidate genes implicated in the regulation of GLUT4.

Alice Williamson
Dougall M. Norris
Claudia Langenberg
Research08 Jun 2023
Nature Genetics

Volume: 55, P: 973-983
Impact of pneumococcal conjugate vaccines on invasive pneumococcal disease-causing lineages among South African children

Introduction of pneumococcal conjugate vaccines in South Africa has led to reductions in vaccine serotype-related invasive disease. Here, the authors perform a genomic surveillance study to evaluate the impact of vaccines on the population structure of S. pneumoniae.

Cebile Lekhuleni
Kedibone Ndlangisa
Mignon du Plessis
ResearchOpen Access27 Sept 2024
Nature Communications

Volume: 15, P: 1-12
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction

2- arachidonoylglycerol (2-AG), an abundant endocannabinoid in the brain, regulates diverse neural functions. Here, the authors identified four loss-of-function mutations in dicylglycerol lipase β (DAGLB) from six patients with early onset Parkinsonism. In mice, loss of DAGLB in dopamine neurons reduced neuronal activity and impaired locomotor function and augmentation of 2-AG levels boosted neuronal activity and rescued locomotor deficits.

Zhenhua Liu
Nannan Yang
Beisha Tang
ResearchOpen Access17 Jun 2022
Nature Communications

Volume: 13, P: 1-16
ADARs act as potent regulators of circular transcriptome in cancer

RNA editing and circRNAs are involved in tumorigenesis. Here the authors report that ADARs regulate the circular transcriptome in a bidirectional manner through and beyond their editing function in multiple cancer cells.

Haoqing Shen
Omer An
Leilei Chen
ResearchOpen Access21 Mar 2022
Nature Communications

Volume: 13, P: 1-16
SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

The Omicron variant evades vaccine-induced neutralization but also fails to form syncytia, shows reduced replication in human lung cells and preferentially uses a TMPRSS2-independent cell entry pathway, which may contribute to enhanced replication in cells of the upper airway. Altered fusion and cell entry characteristics are linked to distinct regions of the Omicron spike protein.

Brian J. Willett
Joe Grove
Emma C. Thomson
ResearchOpen Access07 Jul 2022
Nature Microbiology

Volume: 7, P: 1161-1179
Pan-cancer analysis of longitudinal metastatic tumors reveals genomic alterations and immune landscape dynamics associated with pembrolizumab sensitivity

Although circulating tumour DNA (ctDNA) can predict immune checkpoint blockade (ICB) responses, its association with tumour biomarkers remains unknown. Here, the authors use ctDNA to inform exome and transcriptome profiling of >100 patients with 30 cancer types on a single clinical ICB trial and identify tumour microenvironment features associated with response.

S. Y. Cindy Yang
Scott C. Lien
Trevor J. Pugh
ResearchOpen Access26 Aug 2021
Nature Communications

Volume: 12, P: 1-15
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Hypermutation and microsatellite burden determine responses and long-term survival following PD-1 blockade in children and young adults with refractory cancers resulting from germline DNA replication repair deficiency.

Anirban Das
Sumedha Sudhaman
Uri Tabori
ResearchOpen Access06 Jan 2022
Nature Medicine

Volume: 28, P: 125-135
Perturbed myoepithelial cell differentiation in BRCA mutation carriers and in ductal carcinoma in situ

Myoepithelial cells prevent tumour growth and invasion in DCIS. Here, the authors show that p63 and TCF7 cooperate to regulate a transcription factor network for the maintenance of normal myoepithelial function and altered expression of these genes perturb myoepithelial function in DCIS to promote invasive progression.

Lina Ding
Ying Su
Kornelia Polyak
ResearchOpen Access13 Sept 2019
Nature Communications

Volume: 10, P: 1-16
Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat

Somatic expansion of a CAG repeat in HTT drives onset of Huntington’s disease. Using a human cell line model and splice modulators, here the authors show that PMS1 is an enhancer of CAG repeat expansion, making it a target for therapeutic intervention.

Zachariah L. McLean
Dadi Gao
James F. Gusella
ResearchOpen Access12 Apr 2024
Nature Communications

Volume: 15, P: 1-17
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribution to VEO-IBD and characterize a rare somatic mosaic VEO-IBD patient.

Eva Gonçalves Serra
Tobias Schwerd
Carl A. Anderson
ResearchOpen Access21 Feb 2020
Nature Communications

Volume: 11, P: 1-15
Use of synthetic circular RNA spike-ins (SynCRS) for normalization of circular RNA sequencing data

This protocol presents a method for calibrating circular RNA abundance for comparison between RNA sequencing libraries, utilizing a spike-in of synthetic circular RNAs.

Vanessa M. Conn
Ryan Liu
Simon J. Conn
Protocols26 Sept 2024
Nature Protocols

Volume: 20, P: 387-406
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects

Comparison of genome-wide association studies of HTT CAG repeat expansion in blood to expansion-driven clinical traits in Huntington’s disease identifies shared and distinct modifiers implicating DNA mismatch repair with tissue and cell-type specificity.

Jong-Min Lee
Zachariah L. McLean
Richard H. Myers
Research09 Jun 2025
Nature Genetics

Volume: 57, P: 1426-1436
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease

Openshaw and colleagues find myeloid inflammation and complement activation signatures in patients with long COVID who were previously hospitalized.

Felicity Liew
Claudia Efstathiou
J. Eunice Zhang
ResearchOpen Access08 Apr 2024
Nature Immunology

Volume: 25, P: 607-621
Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

By using exome sequencing and extremes of phenotype, McAllister et al. identify rare coding variants with clinical effect in Huntington’s disease. They show that FAN1 nuclease activity slows CAG expansion and is associated with later onset of HD.

Branduff McAllister
Jasmine Donaldson
Thomas H. Massey
ResearchOpen Access04 Apr 2022
Nature Neuroscience

Volume: 25, P: 446-457
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Mutations in LSM11 and RNU7-1, which encode components of the replication-dependent histone pre-mRNA–processing complex, cause an autoinflammatory syndrome due to enhanced interferon signaling mediated by the cGAS–STING pathway, showing an essential role for nuclear histones in suppressing the immunogenicity of self-DNA.

Carolina Uggenti
Alice Lepelley
Yanick J. Crow
Research23 Nov 2020
Nature Genetics

Volume: 52, P: 1364-1372
Retromer terminates the generation of cAMP by internalized PTH receptors

Going against the classical model of β-arrestin–mediated internalization and downregulation of GPCRs, FRET, FRAP and time-lapse imaging show that PTHR remains active when bound to β-arrestin and is ultimately terminated by retromer complex, a complex involved in transport from endosomes to the Golgi.

Timothy N Feinstein
Vanessa L Wehbi
Jean-Pierre Vilardaga
Research27 Mar 2011
Nature Chemical Biology

Volume: 7, P: 278-284
In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease

A novel in vivo screening strategy identifies new modifiers of somatic CAG repeat expansion that contribute to age of onset in Huntington’s disease.

Ricardo Mouro Pinto
Ryan Murtha
Vanessa C. Wheeler
ResearchOpen Access22 Jan 2025
Nature Genetics

Volume: 57, P: 314-322
Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

Analyzing and integrating a broad range of behavioral phenotypes enables prediction of underlying genetic mutations in mouse models of Huntington's disease.

Vadim Alexandrov
Dani Brunner
Seung Kwak
Research04 Jul 2016
Nature Biotechnology

Volume: 34, P: 838-844
Comparison standards shape everyday judgments of low and high wellbeing in individuals with and without psychopathology: a diary-based investigation

Thomas Meyer
Marthe Sickinghe
Nexhmedin Morina
ResearchOpen Access19 Feb 2024
Scientific Reports

Volume: 14, P: 1-11
Publisher Correction: SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

Brian J. Willett
Joe Grove
Emma C. Thomson
Amendments and CorrectionsOpen Access16 Sept 2022
Nature Microbiology

Volume: 7, P: 1709
Haplotype-based stratification of Huntington's disease

Michael J Chao
Tammy Gillis
Jong-Min Lee
Research23 Aug 2017
European Journal of Human Genetics

Volume: 25, P: 1202-1209
Reciprocal H3.3 gene editing identifies K27M and G34R mechanisms in pediatric glioma including NOTCH signaling

Kuang-Yui Chen et al. show that histone H3.3 K27M and G34R mutations share key oncogenic mechanisms such as activation of neurogenesis and NOTCH pathway genes. They find that H3.3 mutant gliomas are sensitive to inhibition of the NOTCH pathway, suggesting a potentially targetable pathway in pediatric gliomas.

Kuang-Yui Chen
Kelly Bush
Paul S. Knoepfler
ResearchOpen Access09 Jul 2020
Communications Biology

Volume: 3, P: 1-15
Assessing average somatic CAG repeat instability at the protein level

Hubert Aviolat
Ricardo Mouro Pinto
Marian DiFiglia
ResearchOpen Access16 Dec 2019
Scientific Reports

Volume: 9, P: 1-14
International network of cancer genome projects

Thomas J. Hudson (Chairperson)
Warwick Anderson
Huanming Yang
Reviews15 Apr 2010
Nature

Volume: 464, P: 993-998
Correction: Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt^Q111/+ model of Huntington’s disease

Robert M. Bragg
Sydney R. Coffey
Jeffrey B. Carroll
Amendments and CorrectionsOpen Access28 Mar 2017
Scientific Reports

Volume: 7, P: 1
DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association

Lakis et al. report novel findings related to the epigenetic landscape of pancreatic neuroendocrine cancer. This relatively large cohort provides functional insights into the epigenetic wiring of pancreatic neuroendocrine tumor sub-types with the potential ability to stratify tumours of different prognosis.

Vanessa Lakis
Rita T. Lawlor
Aldo Scarpa
ResearchOpen Access03 Feb 2021
Communications Biology

Volume: 4, P: 1-11
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T. M. Blackburn
Nasim Bekheirnia
Mir Reza Bekheirnia
Research02 Jul 2019
Genetics in Medicine

Volume: 21, P: 2755-2764
Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt^Q111/+ model of Huntington’s disease

Robert M. Bragg
Sydney R. Coffey
Jeffrey B. Carroll
ResearchOpen Access08 Feb 2017
Scientific Reports

Volume: 7, P: 1-17
Sharing brain mapping statistical results with the neuroimaging data model

Camille Maumet
Tibor Auer
Thomas E. Nichols
ResearchOpen Access06 Dec 2016
Scientific Data

Volume: 3, P: 1-15
The brain imaging data structure, a format for organizing and describing outputs of neuroimaging experiments

Krzysztof J. Gorgolewski
Tibor Auer
Russell A. Poldrack
ResearchOpen Access21 Jun 2016
Scientific Data

Volume: 3, P: 1-9
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T. M. Blackburn
Nasim Bekheirnia
Mir Reza Bekheirnia
Amendments and Corrections20 Dec 2019
Genetics in Medicine

Volume: 22, P: 821

Search

Suppression of Huntington’s Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding

Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells

Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

Impact of pneumococcal conjugate vaccines on invasive pneumococcal disease-causing lineages among South African children

Mapping the human genetic architecture of COVID-19

Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction

ADARs act as potent regulators of circular transcriptome in cancer

SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

Pan-cancer analysis of longitudinal metastatic tumors reveals genomic alterations and immune landscape dynamics associated with pembrolizumab sensitivity

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Perturbed myoepithelial cell differentiation in BRCA mutation carriers and in ductal carcinoma in situ

Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Use of synthetic circular RNA spike-ins (SynCRS) for normalization of circular RNA sequencing data

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects

Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease

Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Retromer terminates the generation of cAMP by internalized PTH receptors

In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

Comparison standards shape everyday judgments of low and high wellbeing in individuals with and without psychopathology: a diary-based investigation

Publisher Correction: SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway

Haplotype-based stratification of Huntington's disease

Reciprocal H3.3 gene editing identifies K27M and G34R mechanisms in pediatric glioma including NOTCH signaling

Assessing average somatic CAG repeat instability at the protein level

International network of cancer genome projects

Correction: Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt^Q111/+ model of Huntington’s disease

DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical association

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt^Q111/+ model of Huntington’s disease

Sharing brain mapping statistical results with the neuroimaging data model

The brain imaging data structure, a format for organizing and describing outputs of neuroimaging experiments

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

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