Nature Search

Effects of the WHO Labour Care Guide on cesarean section in India: a pragmatic, stepped-wedge, cluster-randomized pilot trial

To evaluate the effects of implementing the WHO Labour Care Guide on cesarean section rates, as compared to routine intrapartum care, a pilot trial conducted in India generated preliminary evidence around the effectiveness of the strategy that can inform larger definitive trials.

Joshua P. Vogel
Yeshita Pujar
Shivaprasad Goudar
ResearchOpen Access30 Jan 2024
Nature Medicine

Volume: 30, P: 463-469
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Laura Fachal
Hugues Aschard
Alison M. Dunning
Research07 Jan 2020
Nature Genetics

Volume: 52, P: 56-73
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations at this locus to breast or ovarian cancer susceptibility and report functional studies in breast and ovarian cancer tissue and cell lines.

Stig E Bojesen
Karen A Pooley
Alison M Dunning
Research27 Mar 2013
Nature Genetics

Volume: 45, P: 371-384
Otitic hydrocephalus and papilloedema—re-evaluating a treatment paradigm

Tiffany A. Chen
Marguerite C. Weinert
Ryan Gise
Research19 Nov 2024
Eye

Volume: 39, P: 741-747
Cortical kappa opioid receptors integrate negative affect and sleep disturbance

Robson C. Lillo Vizin
Hisakatsu Ito
Frank Porreca
ResearchOpen Access04 Oct 2024
Translational Psychiatry

Volume: 14, P: 1-7
Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade

Age-associated B cells (ABC) have been shown to be associated with autoimmunity and ageing. Here the authors examine whether ABC are transcriptionally or functionally altered in participants with reduced immune cell function and show that, being transcriptionally similar, high pre-vaccine levels are associated with poor vaccine response.

Juan Carlos Yam-Puc
Zhaleh Hosseini
James E. D. Thaventhiran
ResearchOpen Access27 Jun 2023
Nature Communications

Volume: 14, P: 1-14
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
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the disease variants in zebrafish.

Silvio Alessandro Di Gioia
Samantha Connors
Elizabeth C. Engle
ResearchOpen Access06 Jul 2017
Nature Communications

Volume: 8, P: 1-16
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Sibel Kantarci
Lihadh Al-Gazali
Barbara R Pober
Research15 Jul 2007
Nature Genetics

Volume: 39, P: 957-959
A function-based typology for Earth’s ecosystems

The International Union for Conservation of Nature’s Global Ecosystem Typology has been developed to provide a systematic framework for data on all of Earth’s ecosystems in a unified theoretical context to support biodiversity conservation and ecosystem services.

David A. Keith
José R. Ferrer-Paris
Richard T. Kingsford
ResearchOpen Access12 Oct 2022
Nature

Volume: 610, P: 513-518
Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Sera from vaccinated individuals and some monoclonal antibodies show a modest reduction in neutralizing activity against the B.1.1.7 variant of SARS-CoV-2; but the E484K substitution leads to a considerable loss of neutralizing activity.

Dami A. Collier
Anna De Marco
Ravindra K. Gupta
Research11 Mar 2021
Nature

Volume: 593, P: 136-141
SARS-CoV-2 evolution during treatment of chronic infection

Chronic infection with SARS-CoV-2 leads to the emergence of viral variants that show reduced susceptibility to neutralizing antibodies in an immunosuppressed individual treated with convalescent plasma.

Steven A. Kemp
Dami A. Collier
Ravindra K. Gupta
Research05 Feb 2021
Nature

Volume: 592, P: 277-282
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard
Michael Lush
Antonis C. Antoniou
Amendments and CorrectionsOpen Access14 May 2021
Nature Communications

Volume: 12, P: 1-2
The role of spatial frequencies for facial pain categorization

Isabelle Charbonneau
Joël Guérette
Daniel Fiset
ResearchOpen Access13 Jul 2021
Scientific Reports

Volume: 11, P: 1-12
Biallelic mutations in human DCC cause developmental split-brain syndrome

Timothy Yu and colleagues report that biallelic mutations in DCC cause a developmental syndrome characterized by widespread disruption of midline-bridging neuronal commissures, including agenesis of the corpus callosum, absence of hippocampal and anterior commissures, and ventral midline brainstem malformations. Clinical manifestations include horizontal gaze palsy, mirror movements, scoliosis and intellectual disability.

Saumya S Jamuar
Klaus Schmitz-Abe
Timothy W Yu
Research27 Feb 2017
Nature Genetics

Volume: 49, P: 606-612
Radiomics and machine learning for the diagnosis of pediatric cervical non-tuberculous mycobacterial lymphadenitis

Yarab Al Bulushi
Christine Saint-Martin
Reza Forghani
ResearchOpen Access22 Feb 2022
Scientific Reports

Volume: 12, P: 1-9
Author Correction: Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Dami A. Collier
Anna De Marco
Ravindra K. Gupta
Amendments and Corrections21 Jul 2022
Nature

Volume: 608, P: E24
Author Correction: SARS-CoV-2 evolution during treatment of chronic infection

Steven A. Kemp
Dami A. Collier
Ravindra K. Gupta
Amendments and Corrections21 Jul 2022
Nature

Volume: 608, P: E23
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

Julie A. Jurgens
Brenda J. Barry
Elizabeth C. Engle
Research01 Mar 2021
European Journal of Human Genetics

Volume: 29, P: 816-826
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

Delnaz Roshandel
Eric J. Sanders
Helen Cockerill
ResearchOpen Access28 Sept 2023
npj Genomic Medicine

Volume: 8, P: 1-11
The NF-κB1 is a key regulator of acute but not chronic renal injury

Amy Fearn
Gerhard R Situmorang
Neil S Sheerin
ResearchOpen Access15 Jun 2017
Cell Death & Disease

Volume: 8, P: e2883
The tale of TILs in breast cancer: A report from The International Immuno-Oncology Biomarker Working Group

Khalid El Bairi
Harry R. Haynes
Paul J. Van Diest
ReviewsOpen Access01 Dec 2021
npj Breast Cancer

Volume: 7, P: 1-17

Search

Effects of the WHO Labour Care Guide on cesarean section in India: a pragmatic, stepped-wedge, cluster-randomized pilot trial

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Otitic hydrocephalus and papilloedema—re-evaluating a treatment paradigm

Cortical kappa opioid receptors integrate negative affect and sleep disturbance

Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

A function-based typology for Earth’s ecosystems

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

SARS-CoV-2 evolution during treatment of chronic infection

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

The role of spatial frequencies for facial pain categorization

Biallelic mutations in human DCC cause developmental split-brain syndrome

Radiomics and machine learning for the diagnosis of pediatric cervical non-tuberculous mycobacterial lymphadenitis

Author Correction: Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Author Correction: SARS-CoV-2 evolution during treatment of chronic infection

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

The NF-κB1 is a key regulator of acute but not chronic renal injury

The tale of TILs in breast cancer: A report from The International Immuno-Oncology Biomarker Working Group

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