Nature Search

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses

Phagocytosed bacteria can serve as an alternative nutrient source for macrophages, influencing their metabolic and immune responses through the recycling of microbial components, with the process regulated by nutrient-sensing mechanisms and bacterial viability.

Juliette Lesbats
Aurélia Brillac
Johan Garaude
Research26 Feb 2025
Nature

Volume: 640, P: 524-533
Identification of anti-repressor elements that confer high and stable protein production in mammalian cells

Ted H.J. Kwaks
Phil Barnett
Arie P. Otte
Research07 Apr 2003
Nature Biotechnology

Volume: 21, P: 553-558
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1

Angèle Guilbot
Nicole Ravisé
Eric LeGuern
Research08 Dec 1999
European Journal of Human Genetics

Volume: 7, P: 849-859
Mapping genomic loci implicates genes and synaptic biology in schizophrenia

A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

Vassily Trubetskoy
Antonio F. Pardiñas
Jim van Os
Research08 Apr 2022
Nature

Volume: 604, P: 502-508
Comprehensive assessment of physiological responses in women during the ESA dry immersion VIVALDI microgravity simulation

To consider the impact of sex on adaptation to space, the European Space Agency initiated VIVALDI dry immersion microgravity simulation in female subjects. Here, the authors show marked deconditioning with 5-day exposure, and propose comprehensive multi-system physiological assessment in 18 healthy women.

Adrien Robin
Angelique Van Ombergen
Nastassia Navasiolava
ResearchOpen Access09 Oct 2023
Nature Communications

Volume: 14, P: 1-21
Birth of a large volcanic edifice offshore Mayotte via lithosphere-scale dyke intrusion

An ~5 km³ volcanic edifice offshore Mayotte formed between May 2018 and May 2019 by rapid magma intrusion through the entire lithosphere, according to an analysis of marine observations and geophysical data.

Nathalie Feuillet
Stephan Jorry
Jérome Van der Woerd
Research26 Aug 2021
Nature Geoscience

Volume: 14, P: 787-795
Tnt1, a mobile retroviral-like transposable element of tobacco isolated by plant cell genetics

Marie-Angèle Grandbastien
Albert Spielmann
Michel Caboche
Research26 Jan 1989
Nature

Volume: 337, P: 376-380
Melanin-concentrating hormone regulates beat frequency of ependymal cilia and ventricular volume

Ependymal cell cilia regulate cerebrospinal fluid flow through the cerebral ventricles. Here the authors show that the metabolic peptide melanin-concentrating hormone (MCH) increases cilia beat frequency in the third ventricle, and a lack of the MCH receptor increases ventricle size.

Grégory Conductier
Frédéric Brau
Alice Guyon
Research26 May 2013
Nature Neuroscience

Volume: 16, P: 845-847
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

François Lecoquierre
Kévin Cassinari
Gaël Nicolas
ResearchOpen Access04 Mar 2024
Scientific Reports

Volume: 14, P: 1-7
The changing marketplace of bioinformatics

The demand for more sophisticated bioinformatics solutions is expanding opportunities for biotechnology startups, but traditional IT companies are also moving into the market.

Paolo P. Saviotti
Marie-Angèle deLooze
David Catherine
Special Features01 Dec 2000
Nature Biotechnology

Volume: 18, P: 1247-1249
Pathogen hide-and-'seq'

This month's Genome Watch looks at how genome sequence analysis aids our understanding of pathogen survival within hosts.

Claire Chewapreecha
Angèle Bénard
Sandra Reuter
News12 Apr 2016
Nature Reviews Microbiology

Volume: 14, P: 271
The exerkine apelin reverses age-associated sarcopenia

The muscle-secreted, exercise-induced peptide hormone apelin decreases with aging and sarcopenia, and its repletion in aged mice with recombinant protein improves muscle mass and function.

Claire Vinel
Laura Lukjanenko
Cedric Dray
Research30 Jul 2018
Nature Medicine

Volume: 24, P: 1360-1371
Biobank attributes associated with higher patient participation: a randomized study

Angèle Gayet-Ageron
Sandrine Rudaz
Thomas Perneger
Research05 Oct 2016
European Journal of Human Genetics

Volume: 25, P: 31-36
Heterochromatin formation in the mouse embryo requires critical residues of the histone variant H3.3

The role of different histone H3 variants following mouse fertilization has not been addressed. The histone H3.3, and its Lys 27 are involved in the establishment of paternal heterochromatin in the pericentric region of the mouse early embryo, through a mechanism involving dsRNA.

Angèle Santenard
Céline Ziegler-Birling
Maria-Elena Torres-Padilla
Research01 Aug 2010
Nature Cell Biology

Volume: 12, P: 853-862
ATM polymorphisms as risk factors for prostate cancer development

S Angèle
A Falconer
J Hall
ResearchOpen Access27 Jul 2004
British Journal of Cancer

Volume: 91, P: 783-787
Decoding the literature on genetic variation

A survey of the scientific and patent literature on single-nucleotide variants reveals the dominance of research centers in the United States and the prolific patenting of SNP technology by a select group of biotechnology companies.

Roger Coronini
Marie-Angèle de Looze
Shyama V. Ramani
Special Features01 Jan 2003
Nature Biotechnology

Volume: 21, P: 21-29
Computational assessment of measurable residual disease in acute myeloid leukemia using mixture models

Mocking et al. address the need for enhanced detection of measurable residual disease (MRD) in leukemia utilizing flow cytometry and computational methods. Their fully automated assessment of MRD status produces interpretable results for clinical diagnostic experts.

Tim R. Mocking
Angèle Kelder
Costa Bachas
ResearchOpen Access19 Dec 2024
Communications Medicine

Volume: 4, P: 1-9
Unshackling genetic medicines by enabling delivery beyond the liver

Harnessing its selective organ targeting lipid nanoparticle platform technology, ReCode Therapeutics is facilitating precision delivery of genetic cargos directly to their intended organs and cells.

ReCode Therapeutics
Advertorial01 Jun 2023
Biopharma Dealmakers
Considering the effect of residual tension forces on the wavelength anisometry of skin imaging by 2D skin tension integrity model

Hassan Zahouani
Meriem Ayadh
Armelle Bigouret
ResearchOpen Access30 Dec 2024
Scientific Reports

Volume: 14, P: 1-14
Dopachrome tautomerase variants in patients with oculocutaneous albinism

Perrine Pennamen
Angèle Tingaud-Sequeira
Benoit Arveiler
Research26 Oct 2020
Genetics in Medicine

Volume: 23, P: 479-487
Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Targeted sequencing finds a higher burden of rare protein-truncating variants in constrained genes among schizophrenia cases of diverse ancestries. Meta-analyses with existing datasets show that this excess burden is consistent across five ancestral populations.

Dongjing Liu
Dara Meyer
Alexander W. Charney
ResearchOpen Access13 Mar 2023
Nature Genetics

Volume: 55, P: 369-376
Impact of hemodilution on flow cytometry based measurable residual disease assessment in acute myeloid leukemia

Jesse M. Tettero
Maaike E. Heidinga
Jeroen J. W. M. Janssen
ResearchOpen Access25 Jan 2024
Leukemia

Volume: 38, P: 630-639
Trends in management and outcomes of COVID patients admitted to a Swiss tertiary care hospital

Christophe Marti
Christophe Gaudet-Blavignac
Angèle Gayet-Ageron
ResearchOpen Access12 Apr 2023
Scientific Reports

Volume: 13, P: 1-9
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Perrine Pennamen
Linh Le
Benoit Arveiler
Research22 Jun 2020
Genetics in Medicine

Volume: 22, P: 1613-1622
CD34⁺CD38⁻ leukemic stem cell frequency to predict outcome in acute myeloid leukemia

Wendelien Zeijlemaker
Tim Grob
Gerrit J. Schuurhuis
Research12 Dec 2018
Leukemia

Volume: 33, P: 1102-1112
Elucidating the major hidden genomic components of the A, C, and AC genomes and their influence on Brassica evolution

Sampath Perumal
Nomar Espinosa Waminal
Tae-Jin Yang
ResearchOpen Access21 Dec 2017
Scientific Reports

Volume: 7, P: 1-12
Non-ketogenic combination of nutritional strategies provides robust protection against seizures

Glenn Dallérac
Julien Moulard
Nathalie Rouach
ResearchOpen Access14 Jul 2017
Scientific Reports

Volume: 7, P: 1-11
Effect of topiramate on eating behaviours in Prader-Willi syndrome: TOPRADER double-blind randomised placebo-controlled study

Angèle Consoli
Sophie Çabal Berthoumieu
Olivier Bonnot
ResearchOpen Access04 Nov 2019
Translational Psychiatry

Volume: 9, P: 1-8
Magnetic Resonance Spectroscopy Study of Glycine Pathways in Nonketotic Hyperglycinemia

Angèle Viola
Brigitte Chabrol
Patrick J Cozzone
Research01 Aug 2002
Pediatric Research

Volume: 52, P: 292-300

Search

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses

Identification of anti-repressor elements that confer high and stable protein production in mammalian cells

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Comprehensive assessment of physiological responses in women during the ESA dry immersion VIVALDI microgravity simulation

Birth of a large volcanic edifice offshore Mayotte via lithosphere-scale dyke intrusion

Tnt1, a mobile retroviral-like transposable element of tobacco isolated by plant cell genetics

Melanin-concentrating hormone regulates beat frequency of ependymal cilia and ventricular volume

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

The changing marketplace of bioinformatics

Pathogen hide-and-'seq'

The exerkine apelin reverses age-associated sarcopenia

Biobank attributes associated with higher patient participation: a randomized study

Heterochromatin formation in the mouse embryo requires critical residues of the histone variant H3.3

ATM polymorphisms as risk factors for prostate cancer development

Decoding the literature on genetic variation

Computational assessment of measurable residual disease in acute myeloid leukemia using mixture models

Unshackling genetic medicines by enabling delivery beyond the liver

Considering the effect of residual tension forces on the wavelength anisometry of skin imaging by 2D skin tension integrity model

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Impact of hemodilution on flow cytometry based measurable residual disease assessment in acute myeloid leukemia

Trends in management and outcomes of COVID patients admitted to a Swiss tertiary care hospital

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

CD34⁺CD38⁻ leukemic stem cell frequency to predict outcome in acute myeloid leukemia

Elucidating the major hidden genomic components of the A, C, and AC genomes and their influence on Brassica evolution

Non-ketogenic combination of nutritional strategies provides robust protection against seizures

Effect of topiramate on eating behaviours in Prader-Willi syndrome: TOPRADER double-blind randomised placebo-controlled study

Magnetic Resonance Spectroscopy Study of Glycine Pathways in Nonketotic Hyperglycinemia

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