Nature Search

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and Mt. Sinai BioMe Biobanks and observed translational potential for all three mechanisms.

Angela Wei
Richard Border
Valerie A. Arboleda
ResearchOpen Access05 Jun 2025
Nature Communications

Volume: 16, P: 1-13
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

Sanna Gudmundsson
Moriel Singer-Berk
Anne O’Donnell-Luria
ResearchOpen Access31 Oct 2025
Nature Communications

Volume: 16, P: 1-14
Adenovirus-mediated N5 gene transfer inhibits tumor cell proliferation by induction of apoptosis

Shenmin Yin
Mien-Chi Hung
David W Goodrich
Research15 Jul 2000
Cancer Gene Therapy

Volume: 7, P: 985-990
Oldest known eutherian stapes and a marsupial petrosal bone from the Late Cretaceous of North America

J. David Archibald
Research25 Oct 1979
Nature

Volume: 281, P: 669-670
Abrogation by c-myc of Gl phase arrest induced by RB protein but not by p53

David W. Goodrich
Wen-Hwa Lee
Research12 Nov 1992
Nature

Volume: 360, P: 177-179
Increased translation driven by non-canonical EZH2 creates a synthetic vulnerability in enzalutamide-resistant prostate cancer

The transition of androgen receptor-dependent prostate cancer to a therapy resistant cancer with neuroendocrine phenotype is an important process that remains poorly understood. Here, the authors show that PKCλ/ι-loss promotes epigenetic reprogramming resulting in a TGFβ resistance programme via transcriptional upregulation of translational machinery.

Shankha S. Chatterjee
Juan F. Linares
Maria T. Diaz-Meco
ResearchOpen Access20 Nov 2024
Nature Communications

Volume: 15, P: 1-23
Largest subunit of Drosophila transcription factor IID directs assembly of a complex containing TBP and a coactivator

Robert O. J. Weinzierl
Brian David Dynlacht
Robert Tjian
Research08 Apr 1993
Nature

Volume: 362, P: 511-517
Structure of the complex between human T-cell receptor, viral peptide and HLA-A2

David N. Garboczi
Partho Ghosh
Don C. Wiley
Research14 Nov 1996
Nature

Volume: 384, P: 134-141
Immune impacts of fire smoke exposure

Methylation and mass cytometry investigations demonstrate the consequences of smoke exposure in humans at the single-cell level.

Mary M. Johnson
Abhinav Kaushik
Kari C. Nadeau
Research26 Jun 2025
Nature Medicine

Volume: 31, P: 3110-3120
Self-splicing introns in tRNA genes of widely divergent bacteria

Barbara Reinhold-Hurek
David A. Shub
Research14 May 1992
Nature

Volume: 357, P: 173-176
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Quan Yi Li
Ruth A. Newbury-Ecob
J. David Brook
Research01 Jan 1997
Nature Genetics

Volume: 15, P: 21-29
An androgen receptor switch underlies lineage infidelity in treatment-resistant prostate cancer

Davies et al. demonstrate that androgen receptor–targeted therapy induces lineage-plastic transcriptional reprogramming, which is mediated by EZH2 and favours stem cell and neuronal gene networks in treatment-resistant prostate cancer.

Alastair Davies
Shaghayegh Nouruzi
Amina Zoubeidi
Research06 Sept 2021
Nature Cell Biology

Volume: 23, P: 1023-1034
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

Craig T. Basson
David R. Bachinsky
Christine E. Seidman
Research01 Jan 1997
Nature Genetics

Volume: 15, P: 30-35
Rats prefer the Home Cage to the Runway following Intermittent but not Consistent Reinforcement

DAVID PREMACK
MITRI E. SHANAB
Research01 Jan 1968
Nature

Volume: 217, P: 288-289
A Striated Intercellular Material in Rat Brain

RONALD A. NAUMANN
DAVID E. WOLFE
Research18 May 1963
Nature

Volume: 198, P: 701-703
Isolation of Hyaluronate from Human Synovial Fluid by Zone Electrophoresis

DAVID HAMERMAN
JOHN SANDSON
Research31 Dec 1960
Nature

Volume: 188, P: 1194-1195
PTEN-regulated PI3K-p110 and AKT isoform plasticity controls metastatic prostate cancer progression

Karina A. Miller
Seamus Degan
Irwin H. Gelman
ResearchOpen Access24 Oct 2023
Oncogene

Volume: 43, P: 22-34
Ligands for ErbB-family receptors encoded by a neuregulin-like gene

Han Chang
David J. Riese II
U. J. McMahan
Research29 May 1997
Nature

Volume: 387, P: 509-512
Structure of a major immunogenic site on foot-and-mouth disease virus

Derek Logan
Robin Abu-Ghazaleh
Elizabeth Fry
Research08 Apr 1993
Nature

Volume: 362, P: 566-568
Phylogenetic and environmental context of a Tournaisian tetrapod fauna

Romer’s Gap describes the period with few known fossils when early tetrapods were becoming increasingly terrestrial. Here, five new species, three stem tetrapods and two stem amphibians, are described from a location in Scotland shedding light on the phylogeny and environment of this period.

Jennifer A. Clack
Carys E. Bennett
Stig A. Walsh
Research05 Dec 2016
Nature Ecology & Evolution

Volume: 1, P: 1-11
Crystal structure of a yeast TFIIA/TBP/DNA complex

Song Tan
Yvonne Hunziker
Timothy J. Richmond
Research09 May 1996
Nature

Volume: 381, P: 127-134
Translational framework linking perfluoroheptanoic acid (PFHpA) exposure to metabolic dysfunction associated steatotic liver disease in adolescents

Baumert, Maretti-Mira et al. integrate human epidemiological data and in vitro liver spheroid models to investigate PFHpA, an unregulated PFAS, in adolescent MASLD. Findings link PFHpA exposure to increased disease risk and identify key pathogenic mechanisms and potential therapeutic targets.

Brittney O. Baumert
Ana C. Maretti-Mira
Lida Chatzi
ResearchOpen Access29 Oct 2025
Communications Medicine

Volume: 5, P: 1-15
A mammalian SRB protein associated with an RNA polymerase II holoenzyme

David M. Chao
Ellen L. Gadbois
Richard A. Young
Research07 Mar 1996
Nature

Volume: 380, P: 82-85
Erratum: Abrogation by c-myc of Gl phase arrest induced by RB protein but not by p53

David W. Goodrich
Wen-Hwa Lee
Amendments and Corrections03 Dec 1992
Nature

Volume: 360, P: 491
Initiation of V(D)J recombination in vitro obeying the 12/23 rule

Quinn M. Eastman
Thomas M. J. Leu
David G. Schatz
Research07 Mar 1996
Nature

Volume: 380, P: 85-88
Pentamerism and the Calcite Skeleton in Echinoderms

DAVID NICHOLS
Research05 Aug 1967
Nature

Volume: 215, P: 665-666
Inferring compound heterozygosity from large-scale exome sequencing data

A strategy for inferring phase for rare variant pairs is applied to exome sequencing data for 125,748 individuals from the Genome Aggregation Database (gnomAD). This resource will aid interpretation of rare co-occurring variants in the context of recessive disease.

Michael H. Guo
Laurent C. Francioli
Kaitlin E. Samocha
Research06 Dec 2023
Nature Genetics

Volume: 56, P: 152-161
A genomic mutational constraint map using variation in 76,156 human genomes

A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

Siwei Chen
Laurent C. Francioli
Konrad J. Karczewski
Research06 Dec 2023
Nature

Volume: 625, P: 92-100
TBP-associated factors are not generally required for transcriptional activation in yeast

Zarmik Moqtaderi
Yu Bai
Kevin Struhl
Research12 Sept 1996
Nature

Volume: 383, P: 188-191
Immune sera recognize on erythrocytes a Plasmodium falciparum antigen composed of repeated amino acid sequences

Ross L. Coppel
Alan F. Cowman
Graham V. Brown
Research30 Aug 1984
Nature

Volume: 310, P: 789-792
Cooperation of Stat2 and p300/CBP in signalling induced by interferon-α

Shoumo Bhattacharya
Richard Eckner
David M. Livingston
Research26 Sept 1996
Nature

Volume: 383, P: 344-347
Combining legal and business strategies to develop combinatorial chemistry businesses

If you are in the business of selling combinatorial chemistry libraries, you may be on the wrong long-term track. Here's why.

David Abraham
Comments & Opinion01 Jul 1997
Nature Biotechnology

Volume: 15, P: 679-681
Expression of transcription factor E2F1 induces quiescent cells to enter S phase

David G. Johnson
James K. Schwarz
Joseph R. Nevins
Research23 Sept 1993
Nature

Volume: 365, P: 349-352
Viscosity of sea-surface slicks

David J. Carlson
Research29 Oct 1987
Nature

Volume: 329, P: 823-825
Managing genomics-based intellectual property

David Abraham
Comments & Opinion01 Feb 1998
Nature Biotechnology

Volume: 16, P: 203-204
Glutamic acid mutagenesis of retinoblastoma protein phosphorylation sites has diverse effects on function

Sylvia Barrientes
Carolyn Cooke
David W Goodrich
Research16 Feb 2000
Oncogene

Volume: 19, P: 562-570
Adeno-associated virus type 2 in US children with acute severe hepatitis

A retrospective analysis using PCR testing, viral enrichment-based sequencing and agnostic metagenomic sequencing finds an association between adeno-associated virus type 2 and paediatric hepatitis of unknown cause.

Venice Servellita
Alicia Sotomayor Gonzalez
Charles Y. Chiu
Research30 Mar 2023
Nature

Volume: 617, P: 574-580
Correction: Corrigendum: A miniature yeast telomerase RNA functions in vivo and reconstitutes activity in vitro

David C Zappulla
Karen Goodrich
Thomas R Cech
Amendments and Corrections01 May 2006
Nature Structural & Molecular Biology

Volume: 13, P: 465
Dissipative self-organization in optical space

Self-organization far from thermal equilibrium in a thermo-optical feedback process occurring in a random array of Fabry–Pérot resonators is shown, adding new capability to dynamic self-assembly in creating materials with fine-tuned adaptive responses.

Chad Ropp
Nicolas Bachelard
Xiang Zhang
Research29 Oct 2018
Nature Photonics

Volume: 12, P: 739-743
Multi-omics architecture of childhood obesity and metabolic dysfunction uncovers biological pathways and prenatal determinants

Obesity encompasses numerous interconnected pathological mechanisms. Here, the authors show that integrating multi-omics data uncovers distinct molecular profiles and prenatal factors linked to childhood obesity and metabolic dysfunction, providing insights for early prevention and intervention strategies.

Nikos Stratakis
Augusto Anguita-Ruiz
Martine Vrijheid
ResearchOpen Access14 Jan 2025
Nature Communications

Volume: 16, P: 1-15
Tropical Medicine, Hygiene, and Parasitology

DAVID BRUCE
Books & Arts25 Jun 1908
Nature

Volume: 78, P: 170-171
Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota

Andre Franke and colleagues perform a genome-wide association study for the gut microbiome, examining the influence of host genetics on overall microbial variation and individual taxa. They find significant associations at the VDR (vitamin D receptor) locus and observe correlations between microbiota and metabolites of VDR, including bile acids.

Jun Wang
Louise B Thingholm
Andre Franke
Research10 Oct 2016
Nature Genetics

Volume: 48, P: 1396-1406
Duplication of ATR inhibits MyoD, induces aneuploidy and eliminates radiation-induced G1 arrest

Leslie Smith
Shu Jing Liu
Mathew J. Thayer
Research01 May 1998
Nature Genetics

Volume: 19, P: 39-46
Overexpression of p21^waf1/cip1 arrests the growth of chicken embryo fibroblasts that overexpress E2F1

Iris Givol
David Givol
Stephen H Hughes
Research17 Jun 1998
Oncogene

Volume: 16, P: 3115-3122
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

Michael Bamshad
Robert C. Lin
Lynn B. Jorde
Research01 Jul 1997
Nature Genetics

Volume: 16, P: 311-315
Hox9 genes and vertebrate limb specification

Martin J. Cohn
Ketan Patel
Cheryll Tickle
Research01 May 1997
Nature

Volume: 387, P: 97-101
Distinct mesenchymal cell states mediate prostate cancer progression

The components of the tumour microenvironment contribute to prostate cancer initiation and progression. Here the authors perform single-cell RNA sequencing and spatial transcriptomics analysis of prostate cancer stroma from mouse models at different stages of the disease and develop a gene signature to predict distant metastasis in patients.

Hubert Pakula
Mohamed Omar
Massimo Loda
ResearchOpen Access08 Jan 2024
Nature Communications

Volume: 15, P: 1-21
A transcriptomic taxonomy of mouse brain-wide spinal projecting neurons

In this study, the authors develop a comprehensive taxonomy of brain-wide SPNs, identifying several novel subsets via their transcriptional signatures.

Carla C. Winter
Anne Jacobi
Zhigang He
ResearchOpen Access13 Dec 2023
Nature

Volume: 624, P: 403-414
Correction: PTEN-regulated PI3K-p110 and AKT isoform plasticity controls metastatic prostate cancer progression

Karina A. Miller
Seamus Degan
Irwin H. Gelman
Amendments and CorrectionsOpen Access14 Dec 2023
Oncogene

Volume: 43, P: 76
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

GATA2 regulatory mutations are associated with hereditary congenital facial paresis in humans. A genetically engineered mouse model recapitulates the human phenotype, showing altered neuron-specific Gata2 expression and a bias in formation of inner-ear efferent neurons over facial branchial motor neurons.

Alan P. Tenney
Silvio Alessandro Di Gioia
Elizabeth C. Engle
ResearchOpen Access29 Jun 2023
Nature Genetics

Volume: 55, P: 1149-1163

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