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| http://dx.doi.org/10.1136/jmg.39.7.514 | DOI Listing |
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Serum Immunoglobulin G Levels and Nicastrin Variation in Hidradenitis Suppurativa.
JAMA Dermatol
January 2025
Centre for Molecular Medicine and Biobanking, University of Malta, Malta.
Importance: Variation in nicastrin (NCSTN) is associated with a monogenic subtype of hidradenitis suppurativa. Dysregulation of humoral immunity has been suggested as a potential mechanistic link between NCSTN variation and hidradenitis suppurativa. There is a paucity of biomarkers that can predict disease-associated variation.
View Article and Find Full Text PDFDeletion of atypical type II restriction genes in Clostridium cellulovorans using a Cas9-based gene editing system.
Appl Microbiol Biotechnol
January 2025
Chair of Microbiology, Technical University of Munich, TUM School of Life Science, Emil-Ramann-Str. 4, 85354, Freising, Germany.
The anaerobic bacterium Clostridium cellulovorans is a promising candidate for the sustainable production of biofuels and platform chemicals due to its cellulolytic properties. However, the genomic engineering of the species is hampered because of its poor genetic accessibility and the lack of genetic tools. To overcome this limitation, a protocol for triparental conjugation was established that enables the reliable transfer of vectors for markerless chromosomal modification into C.
View Article and Find Full Text PDFHepatocyte Rho-associated kinase signaling is required for mice to survive experimental porphyria-associated liver injury.
Hepatol Commun
February 2025
Department of Surgery, University of California, San Francisco, San Francisco, California, USA.
Background: Rho-associated kinases 1 and 2 (ROCK1 and ROCK2) regulate critical cell functions, including actomyosin contractility, apoptosis, and proliferation. Some studies suggest that ROCK inhibition may serve as a treatment for liver fibrosis. More investigation is needed to understand the role of hepatocyte ROCK signaling in vivo, especially in the context of profibrotic liver injury.
View Article and Find Full Text PDFA chromosome-level, haplotype-resolved genome assembly and annotation for the Eurasian minnow (Leuciscidae: Phoxinus phoxinus) provide evidence of haplotype diversity.
Gigascience
January 2025
Leibniz Institute for the Analysis of Biodiversity Change, Museum Koenig Bonn, 53113 Bonn, Germany.
Background: In this study, we present an in-depth analysis of the Eurasian minnow (Phoxinus phoxinus) genome, highlighting its genetic diversity, structural variations, and evolutionary adaptations. We generated an annotated haplotype-phased, chromosome-level genome assembly (2n = 50) by integrating high-fidelity (HiFi) long reads and chromosome conformation capture data (Hi-C).
Results: We achieved a haploid size of 940 megabase pairs (Mbp) for haplome 1 and 929 Mbp for haplome 2 with high scaffold N50 values of 36.
Argonaute2 modulates megakaryocyte development and sex-specific control of platelet protein expression and reactivity.
Sci Rep
January 2025
Department of Medicine, Division of Hematology, Cardeza Foundation for Hematologic Research, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Platelets are enriched in miRNAs and harbor Ago2 as the principal RNA silencing Argonaute. However, roles in thrombopoiesis and platelet function remain poorly understood. We generated megakaryocyte/platelet-specific Ago2-deleted (Ago2 KO) mice and assessed proteomic and functional effects.
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