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
Thiophosphorylation of U1-70K protein inhibits pre-mRNA splicing

Jamal Tazi
Ute Kornstädt
Reinhard Lührmann
Research20 May 1993
Nature

Volume: 363, P: 283-286
A patient with TPCN2-related hypopigmentation and ocular phenotype

Cécile Courdier
Vincent Michaud
Benoit Arveiler
ResearchOpen Access14 Jan 2025
European Journal of Human Genetics

Volume: 33, P: 383-386
Stimulus duration encoding occurs early in the moth olfactory pathway

Precise odor delivery shows that moth pheromone sensitive olfactory receptor neurons are capable of very fast response to odor offset. Adaptation of the neurons on two different time scales is necessary to reproduce the response time course.

Tomas Barta
Christelle Monsempès
Philippe Lucas
ResearchOpen Access03 Oct 2024
Communications Biology

Volume: 7, P: 1-17
A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Eliane Beauregard-Lacroix
Smrithi Salian
Philippe M. Campeau
Research06 Nov 2019
European Journal of Human Genetics

Volume: 28, P: 461-468
Yunis-Varón syndrome caused by biallelic VAC14 mutations

Matthew A Lines
Yoko Ito
David A Dyment
Research21 Jun 2017
European Journal of Human Genetics

Volume: 25, P: 1049-1054
Contribution of 18 F-fluorocholine PET-CT to the preoperative localisation of parathyroid adenoma for the treatment of primary hyperparathyroidism

Suzanne Garnier
Clémentine Mahéo
Jean-Christophe Leclere
ResearchOpen Access23 Mar 2025
Scientific Reports

Volume: 15, P: 1-9
A small-molecule inhibitor of C5 complement protein

An inhibitor of the complement pathway of the innate immune system targets the human complement component 5 protein (C5) by binding to an interfacial pocket to prevent its proteolytic cleavage by the last enzyme of the complement pathway, C5 convertase.

Keith Jendza
Mitsunori Kato
Gregory A. Michaud
Research17 Jun 2019
Nature Chemical Biology

Volume: 15, P: 666-668
Microorganisms linked to inflammatory bowel disease-associated dysbiosis differentially impact host physiology in gnotobiotic mice

Thomas W Hoffmann
Hang-Phuong Pham
Harry Sokol
Research28 Jul 2015
The ISME Journal

Volume: 10, P: 460-477
Autophagy as a therapeutic target in pancreatic cancer

Max Piffoux
Erwan Eriau
Philippe A. Cassier
ReviewsOpen Access15 Sept 2020
British Journal of Cancer

Volume: 124, P: 333-344
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

Gregor Andelfinger and colleagues identify mutations in SGOL1 that cause a novel cohesinopathy characterized by chronic atrial and intestinal dysrhythmia, termed CAID syndrome. SGOL1 encodes a component of the cohesin complex, suggesting that cardiac and gut rhythm are regulated by this complex.

Philippe Chetaille
Christoph Preuss
Gregor Andelfinger
Research05 Oct 2014
Nature Genetics

Volume: 46, P: 1245-1249
ATR inhibition potentiates FOLFIRINOX cytotoxic effect in models of pancreatic ductal adenocarcinoma by remodelling the tumour microenvironment

Marine Bruciamacchie
Véronique Garambois
Christel Larbouret
Research29 Nov 2024
British Journal of Cancer

Volume: 132, P: 222-235
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Sarah Boissel
Catherine Fallet-Bianco
Jacques L Michaud
Research26 Oct 2017
Genetics in Medicine

Volume: 20, P: 745-753
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

René G. Feichtinger
Bettina E. Mucha
Nicolas A. Dumont
Research16 May 2019
Genetics in Medicine

Volume: 21, P: 2521-2531
Bioprospecting for industrially relevant exopolysaccharide-producing cyanobacteria under Portuguese simulated climate

José Diogo Cruz
Cédric Delattre
Vitor Vasconcelos
ResearchOpen Access21 Aug 2023
Scientific Reports

Volume: 13, P: 1-16
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Florence Fellmann
Carla G. van El
Martina C. Cornel
ReviewsOpen Access24 Jun 2019
European Journal of Human Genetics

Volume: 27, P: 1763-1773
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer
Michael Pusch
Vera M. Kalscheuer
ResearchOpen Access16 Nov 2022
Molecular Psychiatry

Volume: 28, P: 668-697
Continuous presence of proto-cereals in Anatolia since 2.3 Ma, and their possible co-evolution with large herbivores and hominins

Valérie Andrieu-Ponel
Pierre Rochette
Mehmet Cihat Alçiçek
ResearchOpen Access26 Apr 2021
Scientific Reports

Volume: 11, P: 1-11
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot
Aoife C. McMahon
Christel Depienne
ResearchOpen Access12 Sept 2018
Genetics in Medicine

Volume: 21, P: 837-849
Machine learning analysis identifies genes differentiating triple negative breast cancers

Charu Kothari
Mazid Abiodoun Osseni
Francine Durocher
ResearchOpen Access26 Jun 2020
Scientific Reports

Volume: 10, P: 1-15
Author Correction: Continuous presence of proto-cereals in Anatolia since 2.3 Ma, and their possible co-evolution with large herbivores and hominins

Valérie Andrieu-Ponel
Pierre Rochette
Mehmet Cihat Alçiçek
Amendments and CorrectionsOpen Access08 Feb 2022
Scientific Reports

Volume: 12, P: 1
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot
Aoife C. McMahon
Christel Depienne
Amendments and CorrectionsOpen Access02 Oct 2018
Genetics in Medicine

Volume: 21, P: 1897-1898
Genetics of the patella

Mark E. Samuels
Philippe M. Campeau
Reviews21 Jan 2019
European Journal of Human Genetics

Volume: 27, P: 671-680

Search

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

Thiophosphorylation of U1-70K protein inhibits pre-mRNA splicing

A patient with TPCN2-related hypopigmentation and ocular phenotype

Stimulus duration encoding occurs early in the moth olfactory pathway

A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Yunis-Varón syndrome caused by biallelic VAC14 mutations

Contribution of 18 F-fluorocholine PET-CT to the preoperative localisation of parathyroid adenoma for the treatment of primary hyperparathyroidism

A small-molecule inhibitor of C5 complement protein

Microorganisms linked to inflammatory bowel disease-associated dysbiosis differentially impact host physiology in gnotobiotic mice

Autophagy as a therapeutic target in pancreatic cancer

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

ATR inhibition potentiates FOLFIRINOX cytotoxic effect in models of pancreatic ductal adenocarcinoma by remodelling the tumour microenvironment

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Bioprospecting for industrially relevant exopolysaccharide-producing cyanobacteria under Portuguese simulated climate

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Continuous presence of proto-cereals in Anatolia since 2.3 Ma, and their possible co-evolution with large herbivores and hominins

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Machine learning analysis identifies genes differentiating triple negative breast cancers

Author Correction: Continuous presence of proto-cereals in Anatolia since 2.3 Ma, and their possible co-evolution with large herbivores and hominins

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Genetics of the patella

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