Nature Search

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

Catherine Tsilfidis
Alex E. MacKenzie
Robert G. Korneluk
Research01 Jun 1992
Nature Genetics

Volume: 1, P: 192-195
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Giuseppe Pilia
Rhiannon M. Hughes-Benzie
David Schlessinger
Research01 Mar 1996
Nature Genetics

Volume: 12, P: 241-247
Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes

Peter Listen
Natalie Roy
Robert G. Korneluk
Research25 Jan 1996
Nature

Volume: 379, P: 349-353
Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation

Jean McGowan-Jordan
Karen Stoddard
Hans Heick
Research01 Sept 1999
European Journal of Human Genetics

Volume: 7, P: 671-678
Sense of Smell in Flies

ALEX. HILL
Research13 May 1909
Nature

Volume: 80, P: 308
Biodiversity impacts of the 2019–2020 Australian megafires

Data collected from more than 2,000 taxa provide an unparalleled opportunity to quantify how extreme wildfires affect biodiversity, revealing that the largest effects on plants and animals were in areas with frequent or recent past fires and within extensively burnt areas.

Don A. Driscoll
Kristina J. Macdonald
Ryan D. Phillips
ResearchOpen Access13 Nov 2024
Nature

Volume: 635, P: 898-905
Metagenomic surveillance uncovers diverse and novel viral taxa in febrile patients from Nigeria

Applying metagenomics, the authors identify 13 viruses in febrile Nigerians, including a new dicistrovirus. Real-time phylogenetics spurred national vaccination campaigns, while retrospective analysis linked pegivirus C co-infections to favorable Lassa Fever outcomes.

Judith U. Oguzie
Brittany A. Petros
Christian T. Happi
ResearchOpen Access04 Aug 2023
Nature Communications

Volume: 14, P: 1-14
The inhibitors of apoptosis (IAPs) and their emerging role in cancer

Eric C LaCasse
Stephen Baird
Alex E MacKenzie
Reviews12 Jan 1999
Oncogene

Volume: 17, P: 3247-3259
Chemistry, Matter and Life

ALEX. FINDLAY
Books & Arts21 Aug 1937
Nature

Volume: 140, P: 300-301
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
SMA genes: deleted and duplicated

Mani S. Mahadevan
Robert G. Korneluk
Joh-E Ikeda
Correspondence01 Feb 1995
Nature Genetics

Volume: 9, P: 112-113
Emergence and spread of two SARS-CoV-2 variants of interest in Nigeria

Data on geographically restricted SARS-CoV-2 variants is lacking in some regions. In this nationwide effort including 18 public health labs, the authors used genomic epidemiology and travel data to understand the origin and spread of 2 variants of interest that predominated during the second wave of the pandemic in Nigeria.

Idowu B. Olawoye
Paul E. Oluniyi
Christian T. Happi
ResearchOpen Access13 Feb 2023
Nature Communications

Volume: 14, P: 1-10
Defective twin boundaries in nanotwinned metals

Coherent twin boundaries, which usually form during the growth, deformation or annealing of crystalline solids, are widely described as perfect interfaces. Experiments and simulations now show that as-grown coherent twin boundaries in nanotwinned copper consist of incoherent segments and partial dislocations, and significantly affect the material’s mechanical behaviour and deformation mechanisms.

Y. Morris Wang
Frederic Sansoz
Alex V. Hamza
Research19 May 2013
Nature Materials

Volume: 12, P: 697-702
Genome organization around nuclear speckles drives mRNA splicing efficiency

Nuclear speckles are shown to have a functional role in mRNA splicing, whereby dynamic three-dimensional organization of DNA around these structures mediates splicing efficiency.

Prashant Bhat
Amy Chow
Mitchell Guttman
Research08 May 2024
Nature

Volume: 629, P: 1165-1173
Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.

Ernest Turro
William J. Astle
Willem H. Ouwehand
Research24 Jun 2020
Nature

Volume: 583, P: 96-102
Calcium is an essential cofactor for metal efflux by the ferroportin transporter family

Ferroportin (Fpn) is essential for mammalian iron homeostasis as it exports iron from cells into blood circulation, but the molecular mechanisms of Fpn-mediated iron transport remain obscure. Here the authors use biophysical approaches to reveal that Ca²⁺ is a required cofactor for Fpn transport activity.

Chandrika N. Deshpande
T. Alex Ruwe
Mika Jormakka
ResearchOpen Access06 Aug 2018
Nature Communications

Volume: 9, P: 1-10
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

Peter H. Dixon
Adam P. Levine
Catherine Williamson
ResearchOpen Access17 Aug 2022
Nature Communications

Volume: 13, P: 1-18
Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen

A. J. Mears
S. C. Schock
Alex MacKenzie
ResearchOpen Access24 Apr 2017
npj Genomic Medicine

Volume: 2, P: 1-8
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
Genetic therapy for spinal muscular atrophy

A severe inherited neuromuscular disease is corrected in mice by intravenous gene delivery.

Alex MacKenzie
News & Views01 Mar 2010
Nature Biotechnology

Volume: 28, P: 235-237
Tudor reign

The first structural analysis of part of the spinal muscular atrophy (SMA)-causing 'survival of motor neurons' (SMN) protein reveals a structural similarity to the common spliceosomal small nuclear ribonucleoprotein (snRNP) Sm proteins. This observation gives clues to possible SMN roles in the cell, the loss of which may contribute to the pathogenesis of SMA.

Alex E. MacKenzie
Nathalie H. Gendron
News & Views01 Jan 2001
Nature Structural Biology

Volume: 8, P: 13-15
A delay in sampling information from temporally autocorrelated visual stimuli

When a cue is provided, people can rapidly attend to a changing scene and remember how it looked right after the cue appeared, but if the scene changes gradually, there is a delay in what we remember. Here the authors model these effects as prolonged attentional engagement.

Chloe Callahan-Flintoft
Alex O. Holcombe
Brad Wyble
ResearchOpen Access15 Apr 2020
Nature Communications

Volume: 11, P: 1-11
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

In a multicenter research program coordinated by the International Mouse Phenotyping Consortium, Spielmann et al. analyze the cardiac function and structure in ~4,000 monogenic mutant mice and identify 705 mouse genes involved in cardiac function, 75% of which have not been previously linked to cardiac heritable disease in humans. Using the UK Biobank human data, the authors validate the link between cardiovascular disease and some of the newly identified genes to illustrate the resource value and potential of their mutant mouse collection.

Nadine Spielmann
Gregor Miller
Martin Hrabe de Angelis
ResearchOpen Access17 Feb 2022
Nature Cardiovascular Research

Volume: 1, P: 157-173
Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution

Circulating tumour DNA profiling in early-stage non-small-cell lung cancer can be used to track single-nucleotide variants in plasma to predict lung cancer relapse and identify tumour subclones involved in the metastatic process.

Christopher Abbosh
Nicolai J. Birkbak
Charles Swanton
Research26 Apr 2017
Nature

Volume: 545, P: 446-451
Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

Idiopathic pulmonary arterial hypertension is a rare and fatal disease with a heterogeneous treatment response. Here the authors show that unsupervised machine learning of whole blood transcriptomes from 359 patients with idiopathic pulmonary arterial hypertension identifies 3 subgroups (endophenotypes) that improve risk stratification and provide new molecular insights.

Sokratis Kariotis
Emmanuel Jammeh
Richard C. Trembath
ResearchOpen Access07 Dec 2021
Nature Communications

Volume: 12, P: 1-14
Apoptosis of White Matter Cells Following Traumatic Brain Injury in the Mouse• 204

Donna L Johnston
James S Hutchison
Alex E MacKenzie
Research01 Apr 1998
Pediatric Research

Volume: 43, P: 37
APOPTOSIS FOLLOWING TRAUMATIC BRAIN INJURY 195

Donna L Johnston
James S Hutchison
Alex E MacKenzie
Research01 Apr 1997
Pediatric Research

Volume: 41, P: 35
Neoantigen-directed immune escape in lung cancer evolution

RNA sequencing data and tumour pathology observations of non-small-cell lung cancers indicate that the immune cell microenvironment exerts strong evolutionary selection pressures that shape the immune-evasion capacity of tumours.

Rachel Rosenthal
Elizabeth Larose Cadieux
Andrew Kidd
Research20 Mar 2019
Nature

Volume: 567, P: 479-485
Variability in storm season intensity modulates ocean acidification conditions in the northern Strait of Georgia

Wiley Evans
Katie Campbell
Jennifer M. Jackson
ResearchOpen Access06 Feb 2025
Scientific Reports

Volume: 15, P: 1-14
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

Cerebro–costo–mandibular syndrome, CCMS, is a severe human multiple malformation disorder. Here, the authors report that mutations in SNRPBdisrupt the normal regulation of alternative splicing at this gene, and in so doing, may be responsible for the development of CCMS.

Danielle C. Lynch
Timothée Revil
Francois P. Bernier
ResearchOpen Access22 Jul 2014
Nature Communications

Volume: 5, P: 1-6
Integrated genomic characterization of endometrial carcinoma

An integrative genomic analysis of several hundred endometrial carcinomas shows that a minority of tumour samples carry copy number alterations or TP53 mutations and many contain key cancer-related gene mutations, such as those involved in canonical pathways and chromatin remodelling; a reclassification of endometrial tumours into four distinct types is proposed, which may have an effect on patient treatment regimes.

Douglas A. Levine
Gad Getz
Douglas A. Levine
ResearchOpen Access01 May 2013
Nature

Volume: 497, P: 67-73
Racial and ethnic differences in prenatal exposure to environmental phenols and parabens in the ECHO Cohort

Michael S. Bloom
Sudhi Upadhyaya
Lynne M. Smith
ResearchOpen Access15 Feb 2025
Journal of Exposure Science & Environmental Epidemiology

P: 1-11
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. Here the authors link mutations in the gene PNPLA6 with childhood blindness in seven families with retinal degeneration and show that the gene plays a role in photoreceptor survival in Drosophila.

S. Kmoch
J. Majewski
R. K. Koenekoop
Research09 Jan 2015
Nature Communications

Volume: 6, P: 1-10
Author Correction: Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

Sokratis Kariotis
Emmanuel Jammeh
Richard C. Trembath
Amendments and CorrectionsOpen Access25 Nov 2022
Nature Communications

Volume: 13, P: 1
Preclinical target validation using patient-derived cells

The Structural Genomics Consortium (SGC) and its clinical, industry and disease-foundation partners are launching open-source preclinical translational medicine studies.

Aled M. Edwards
Cheryl H. Arrowsmith
L. Trevor Young
Comments & Opinion20 Feb 2015
Nature Reviews Drug Discovery

Volume: 14, P: 149-150
Rare-disease genetics in the era of next-generation sequencing: discovery to translation

The identification of mutations that underlie rare diseases has dramatically accelerated in recent years thanks to next-generation sequencing. This Review discusses strategies for further identification studies, insights into disease mechanisms and the clinical implications of the rapid progress in this field of research.

Kym M. Boycott
Megan R. Vanstone
Alex E. MacKenzie
Reviews03 Sept 2013
Nature Reviews Genetics

Volume: 14, P: 681-691
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Biallelic mutations in human XRCC1 are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia.

Nicolas C. Hoch
Hana Hanzlikova
Keith W. Caldecott
Research21 Dec 2016
Nature

Volume: 541, P: 87-91
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Jason R Vanstone
Amanda M Smith
Matthew A Lines
Research25 Nov 2015
European Journal of Human Genetics

Volume: 24, P: 1084-1088
Municipal and neighbourhood level wastewater surveillance and subtyping of an influenza virus outbreak

Elisabeth Mercier
Patrick M. D’Aoust
Robert Delatolla
ResearchOpen Access22 Sept 2022
Scientific Reports

Volume: 12, P: 1-11
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Amendments and Corrections17 Jul 2020
Nature

Volume: 584, P: E2
Anti- and pro-apoptotic activities of baculovirus and Drosophila IAPs in an insect cell line

Alex J Harvey
Hatem Soliman
Lois K Miller
Research01 Dec 1997
Cell Death & Differentiation

Volume: 4, P: 733-744
The draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus)

Researchers from Hawaii and an international consortium have produced a draft genome assembly for 'SunUp', the first commercial virus-resistant transgenic fruit tree. Comparison of this plant genome to those of Arabidopsis and others sheds light on evolution of characteristics such as biosynthesis, starch deposition, control of photosynthesis and pathways for creating volatile compounds.

Ray Ming
Shaobin Hou
Maqsudul Alam
ResearchOpen Access24 Apr 2008
Nature

Volume: 452, P: 991-996
Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse lines

Hillary Elrick
Kevin A. Peterson
Lauryl M. J. Nutter
ResearchOpen Access30 Sept 2024
Scientific Reports

Volume: 14, P: 1-15
Neuronal apoptosis inhibitory protein (NAIP) localizes to the cytokinetic machinery during cell division

Francisco Abadía-Molina
Virginia Morón-Calvente
Alex MacKenzie
ResearchOpen Access06 Jan 2017
Scientific Reports

Volume: 7, P: 1-12
Author Correction: Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP)

Sanjay Jain
Liming Pei
Michael P. Snyder
Amendments and Corrections01 Mar 2024
Nature Cell Biology

Volume: 26, P: 839
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

A diagnostic tool based on blood RNA-seq is shown to identify causal genes and variants linked to clinical phenotypes in individuals with rare diseases for which whole-exome genetic sequencing was uninformative.

Laure Frésard
Craig Smail
Stephen B. Montgomery
Research03 Jun 2019
Nature Medicine

Volume: 25, P: 911-919
Thromboxane biosynthesis in cancer patients and its inhibition by aspirin: a sub-study of the Add-Aspirin trial

Nalinie Joharatnam-Hogan
Duaa Hatem
Ruth E. Langley
ResearchOpen Access07 Jul 2023
British Journal of Cancer

Volume: 129, P: 706-720
Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP)

The Human BioMolecular Atlas Program (HuBMAP) presents its production phase: the generation of spatial maps of functional tissue units across organs from diverse populations and the creation of tools and infrastructure to advance biomedical research.

Sanjay Jain
Liming Pei
Michael P. Snyder
Reviews19 Jul 2023
Nature Cell Biology

Volume: 25, P: 1089-1100
Carrier testing for spinal muscular atrophy

Jonathan M Gitlin
Kenneth Fischbeck
R Rodney Howell
Research30 Aug 2010
Genetics in Medicine

Volume: 12, P: 621-622
Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Nadine Spielmann
Gregor Miller
Martin Hrabe de Angelis
Amendments and CorrectionsOpen Access20 Apr 2022
Nature Cardiovascular Research

Volume: 1, P: 529-531

Search

Filter By:

Search

Quick links