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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
The European functional tree of bird life in the face of global change

Species response to environmental change can have an impact on community assemblages and ecosystem functioning. Here, the authors assess the combined impact of regional land use and climate change on bird functional diversity and find that global changes may lead to uniform species assemblages across Europe.

Wilfried Thuiller
Samuel Pironon
Niklaus E. Zimmermann
Research23 Jan 2014
Nature Communications

Volume: 5, P: 1-10
Interaction of two MADS-box genes leads to growth phenotype divergence of all-flesh type of tomatoes

The all-flesh type of tomato fruits is caused by mutation of the MBP3 gene, however, knocking down MBP3 in certain genotypes also affect plant and fruit development. Here, the authors show that a natural mutation of AGL11, a close homolog of MBP3, is responsible for the phenotypic divergence.

Baowen Huang
Guojian Hu
Mondher Bouzayen
ResearchOpen Access25 Nov 2021
Nature Communications

Volume: 12, P: 1-14
Quantification and characterisation of commensal wild birds and their interactions with domestic ducks on a free-range farm in southwest France

Chloé Le Gall-Ladevèze
Claire Guinat
Guillaume Le Loc’h
ResearchOpen Access13 Jun 2022
Scientific Reports

Volume: 12, P: 1-13
Active mucus–cilia hydrodynamic coupling drives self-organization of human bronchial epithelium

The flow of fluid, such as mucus in the human respiratory tract, can affect biological function. Here the authors show that the hydrodynamic interactions mediated by mucus are essential for the directional coordination of ciliary beating in the lungs.

Etienne Loiseau
Simon Gsell
Annie Viallat
Research10 Aug 2020
Nature Physics

Volume: 16, P: 1158-1164
Identification of proteins involved in the anti-inflammatory properties of Propionibacterium freudenreichii by means of a multi-strain study

Stéphanie-Marie Deutsch
Mahendra Mariadassou
Hélène Falentin
ResearchOpen Access13 Apr 2017
Scientific Reports

Volume: 7, P: 1-13
LINE-1 activation after fertilization regulates global chromatin accessibility in the early mouse embryo

Maria-Elena Torres-Padilla and colleagues use a targeted epigenomic approach to investigate the role of LINE-1 retroelements during early mouse development. Their data suggest that timely activation of LINE-1 regulates global chromatin accessibility and is integral to the mouse developmental program.

Joanna W Jachowicz
Xinyang Bing
Maria-Elena Torres-Padilla
Research28 Aug 2017
Nature Genetics

Volume: 49, P: 1502-1510
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Corine Bertolotto
Fabienne Lesueur
Brigitte Bressac-de Paillerets
Research19 Oct 2011
Nature

Volume: 480, P: 94-98
Incidence, risk factors and outcome of BK virus hemorrhagic cystitis following allogenic hematopoietic cell transplantation: a retrospective cohort study

Using competitive risk analysis, we report high incidence of BK virus hemorrhagic cystitis (BKHC) after hematopoietic cell transplantation (9.5% at 100 days) without impact on overall mortality. Post-transplantation cyclophosphamide was not associated to BKHC using Fine and Gray multivariate analysis.

Anastasia Saade
Julien Gras
Jean-Michel Molina
Research20 May 2022
Bone Marrow Transplantation

Volume: 57, P: 1287-1294
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

Angélique Quartier
Hélène Poquet
Amélie Piton
Research08 Feb 2017
European Journal of Human Genetics

Volume: 25, P: 423-431
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Amélie Piton
Hélène Poquet
Jean-Louis Mandel
Research30 Oct 2013
European Journal of Human Genetics

Volume: 22, P: 776-783
Pleuroparenchymal fibroelastosis after allogeneic hematopoietic stem cell transplantation

Louise Bondeelle
Julien Gras
Anne Bergeron
Correspondence14 Aug 2019
Bone Marrow Transplantation

Volume: 55, P: 982-986

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

The European functional tree of bird life in the face of global change

Interaction of two MADS-box genes leads to growth phenotype divergence of all-flesh type of tomatoes

Quantification and characterisation of commensal wild birds and their interactions with domestic ducks on a free-range farm in southwest France

Active mucus–cilia hydrodynamic coupling drives self-organization of human bronchial epithelium

Identification of proteins involved in the anti-inflammatory properties of Propionibacterium freudenreichii by means of a multi-strain study

LINE-1 activation after fertilization regulates global chromatin accessibility in the early mouse embryo

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Incidence, risk factors and outcome of BK virus hemorrhagic cystitis following allogenic hematopoietic cell transplantation: a retrospective cohort study

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Pleuroparenchymal fibroelastosis after allogeneic hematopoietic stem cell transplantation

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