Nature Search

Impact of BRCA mutations, age, surgical indication, and hormone status on the molecular phenotype of the human Fallopian tube

The human Fallopian tube (FT) is implicated as a site of origin for pelvic serous cancers. Here the authors conduct multi-omics analysis on over 100 FTs. The results challenge the assumption that BRCA1/2 mutation carriers exhibit significant molecular alterations in normal FTs before loss of heterozygosity (LOH) occurs, and suggest that tumorigenesis in BRCA1/2 carriers requires LOH or secondary genetic events rather than haploinsufficiency alone.

Ian Beddows
Svetlana Djirackor
Hui Shen
ResearchOpen Access26 Mar 2025
Nature Communications

Volume: 16, P: 1-17
Erratum: Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Michael Benzinou
Frederic F. Clermont
Rosemary J. Akhurst
Amendments and Corrections23 Oct 2012
Nature Communications

Volume: 3, P: 1
Multiomic single cell sequencing identifies stemlike nature of mixed phenotype acute leukemia

The genetic characterisation of mixed phenotype acute leukemia (MPAL) remains limited. Here, single cell multi-omics analysis of 14 adult MPAL patients identifies a stem cell-like transcriptomic signature expressed by MPAL blasts that is indicative of high differentiation potential and gives rise to a gene set score MPAL95 that is predictive of survival.

Cheryl A. C. Peretz
Vanessa E. Kennedy
Catherine C. Smith
ResearchOpen Access18 Sept 2024
Nature Communications

Volume: 15, P: 1-17
The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis

Down syndrome has a high co-morbidity with immune and hematopoietic disorders. Here, the authors perform an epigenome-wide association study in newborns with and without Down syndrome to find differential methylation across the genome, including in hematopoietic regulators RUNX1 and FLI1.

Ivo S. Muskens
Shaobo Li
Adam J. de Smith
ResearchOpen Access05 Feb 2021
Nature Communications

Volume: 12, P: 1-15
Aversive state processing in the posterior insular cortex

Gehrlach et al. show how the posterior insular cortex processes and modulates diverse internally and externally generated aversive states, and they dissect the functional contribution of segregated projections mediating inhibition of ongoing behaviors.

Daniel A. Gehrlach
Nate Dolensek
Nadine Gogolla
Research27 Aug 2019
Nature Neuroscience

Volume: 22, P: 1424-1437
Replication confers β cell immaturity

Adult beta cells, which are highly specialised insulin-secreting cells, rarely replicate. Puri et al. demonstrate that beta cell proliferative capacity is inversely correlated with their functionality and differentiation state, by inducing proliferation of adult cells with ectopic overexpression of the cell cycle regulator c-Myc.

Sapna Puri
Nilotpal Roy
Matthias Hebrok
ResearchOpen Access02 Feb 2018
Nature Communications

Volume: 9, P: 1-12
Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight

Birthweight has been found to associate with later-life health outcomes. Here the authors perform a meta-analysis of epigenome-wide association studies of 8,825 neonates from 24 birth cohorts in the Pregnancy And Childhood Epigenetics Consortium, identifying differentially methylated CpGs in neonatal blood that associate with birthweight.

Leanne K. Küpers
Claire Monnereau
Janine F. Felix
ResearchOpen Access23 Apr 2019
Nature Communications

Volume: 10, P: 1-11
Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HTT) is caused by mutations in TGFβ/bone morphogenetic protein signalling genes. Here, Benzinouet al. show that variants of PTPN14, a gene within a mouse Tgfb1 modifier locus, associate with pulmonary arteriovenous malformation in HTT patients, shedding light on the molecular aetiology of this disease.

Michael Benzinou
Frederic F. Clermont
Rosemary J. Akhurst
Research10 Jan 2012
Nature Communications

Volume: 3, P: 1-10
Force-dependent allostery of the α-catenin actin-binding ___domain controls adherens junction dynamics and functions

Cell-cell adhesion mediated by catenin-cadherin complexes plays a critical role in translating the mechanical forces into physiological responses. Here the authors define a mechanism of force-dependent cadherin-actin linkage dynamically regulated through the actin-binding ___domain of α-catenin.

Noboru Ishiyama
Ritu Sarpal
Mitsuhiko Ikura
ResearchOpen Access30 Nov 2018
Nature Communications

Volume: 9, P: 1-17
Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway

Boris Bastian and colleagues report the results of exome sequencing of desmoplastic melanoma. They identify recurrent NFKBIE promoter mutations and diverse mutations leading to activation of the MAPK pathway.

A Hunter Shain
Maria Garrido
Boris C Bastian
Research07 Sept 2015
Nature Genetics

Volume: 47, P: 1194-1199
UGT1A1 Gene Polymorphisms in North Indian Neonates Presenting with Unconjugated Hyperbilirubinemia

Sunil K Agrawal
Praveen Kumar
Anil Narang
Research01 Jun 2009
Pediatric Research

Volume: 65, P: 675-680
Regulators of skeletal development: a cluster analysis of 206 bone tumors reveals diagnostically useful markers

Andrew E Horvai
Ritu Roy
Richard J O'Donnell
Research06 Jul 2012
Modern Pathology

Volume: 25, P: 1452-1461
Genomic and expression profiling reveal molecular heterogeneity of disseminated tumor cells in bone marrow of early breast cancer

Mark Jesus M. Magbanua
Hope S. Rugo
John W. Park
ResearchOpen Access05 Sept 2018
npj Breast Cancer

Volume: 4, P: 1-11
Loss of DLC1 is an independent prognostic factor in patients with oral squamous cell carcinoma

Satyendra Chandra Tripathi
Jatinder Kaur
K W Michael Siu
Research14 Oct 2011
Modern Pathology

Volume: 25, P: 14-25
Similarity in genetic alterations between paired well-differentiated and dedifferentiated components of dedifferentiated liposarcoma

Andrew E Horvai
Sandy DeVries
Frederic Waldman
Research04 Sept 2009
Modern Pathology

Volume: 22, P: 1477-1488

Search

Impact of BRCA mutations, age, surgical indication, and hormone status on the molecular phenotype of the human Fallopian tube

Erratum: Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Multiomic single cell sequencing identifies stemlike nature of mixed phenotype acute leukemia

The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis

Aversive state processing in the posterior insular cortex

Replication confers β cell immaturity

Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Force-dependent allostery of the α-catenin actin-binding ___domain controls adherens junction dynamics and functions

Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway

UGT1A1 Gene Polymorphisms in North Indian Neonates Presenting with Unconjugated Hyperbilirubinemia

Regulators of skeletal development: a cluster analysis of 206 bone tumors reveals diagnostically useful markers

Genomic and expression profiling reveal molecular heterogeneity of disseminated tumor cells in bone marrow of early breast cancer

Loss of DLC1 is an independent prognostic factor in patients with oral squamous cell carcinoma

Similarity in genetic alterations between paired well-differentiated and dedifferentiated components of dedifferentiated liposarcoma

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