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Showing 1–7 of 7 results

Advanced filters: Author: P. Osei-Owusu Clear advanced filters

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
Macrophage secretion of miR-106b-5p causes renin-dependent hypertension

Myeloid cells are involved in hypertension, but their exact role in renin-induced hypertension remains unclear. Here the authors show that impaired vitamin D signaling in myeloid cells causes hypertension via macrophage-specific miR-106b-5p secretion, which activates renin production in the kidney.

J. Oh
S. J. Matkovich
C. Bernal-Mizrachi
ResearchOpen Access23 Sept 2020
Nature Communications

Volume: 11, P: 1-12
The relaxin receptor RXFP1 signals through a mechanism of autoinhibition

The RXFP1 relaxin receptor is a critical mediator of physiological adaptation to pregnancy and an emerging drug target. RXFP1 activation was found to entail an unexpected mechanism of ectodomain disinhibition resulting in downstream signaling.

Sarah C. Erlandson
Shaun Rawson
Andrew C. Kruse
Research20 Apr 2023
Nature Chemical Biology

Volume: 19, P: 1013-1021
GREGoR: accelerating genomics for rare diseases

The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

Moez Dawood
Ben Heavner
Gabrielle C. Villard
Reviews12 Nov 2025
Nature

Volume: 647, P: 331-342
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

In a new study including 200 families who experienced perinatal death, adding genomic analyses to standard autopsies improved the identification of underlying pathogenic causes and informed genetic counseling.

Alicia B. Byrne
Peer Arts
Hamish S. Scott
ResearchOpen Access19 Jan 2023
Nature Medicine

Volume: 29, P: 180-189
First report on the presence of huanglongbing vectors (Diaphorina citri and Trioza erytreae) in Ghana

Owusu F. Aidoo
Fred K. Ablormeti
Mamoudou Sétamou
ResearchOpen Access13 Jul 2023
Scientific Reports

Volume: 13, P: 1-10
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne
Peer Arts
Hamish S. Scott
Amendments and CorrectionsOpen Access10 Jul 2023
Nature Medicine

Volume: 30, P: 302