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Genetics, Gene Therapy & Genetic Disease

  • Intrinsic deletion at 10q23.31, including the <em>PTEN</em> gene locus, is aggravated upon CRISPR-Cas9–mediated genome engineering in HAP1 cells mimicking cancer profiles
    Open Access
    Intrinsic deletion at 10q23.31, including the PTEN gene locus, is aggravated upon CRISPR-Cas9–mediated genome engineering in HAP1 cells mimicking cancer profiles

    Keyi Geng, Lara G Merino, Raül G Veiga, Christian Sommerauer, Janine Epperlein, Eva K Brinkman, Claudia Kutter

    Keyi Geng ... Claudia Kutter

    Published 20 November 2023

    The unintended 10q23.31 deletion frequency rises in HAP1 cells stressed during CRISPR-Cas9 engineering, leading to aberrant molecular and cellular changes resembling common cancer patient deletions.

  • DOCK1 insufficiency disrupts trophoblast function and pregnancy outcomes via DUSP4-ERK pathway
    Open Access
    DOCK1 insufficiency disrupts trophoblast function and pregnancy outcomes via DUSP4-ERK pathway

    Yichi Xu, Xiaorui Liu, Weihong Zeng, Yueyue Zhu, Junpeng Dong, Fan Wu, Cailian Chen, Surendra Sharma, Yi Lin

    Yichi Xu ... Yi Lin

    Published 15 November 2023

    This study reveals that decreased DOCK1 in placental villi affects trophoblast function via the DUSP4-ERK pathway, providing insights into adverse pregnancy outcomes.

  • Meta-analysis of dispensable essential genes and their interactions with bypass suppressors
    Open Access
    Meta-analysis of dispensable essential genes and their interactions with bypass suppressors

    Carles Pons, Jolanda van Leeuwen

    Carles Pons ... Jolanda van Leeuwen

    Published 2 November 2023

    This work compiles data from several studies on dispensable essential genes in S. cerevisiae to comprehensively characterize these genes and to explore how their interactions with bypass suppressor genes reflect evolution in natural populations.

  • Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants
    Open Access
    Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants

    Janick Selves, Helena de Castro e Gloria, Anne-Cécile Brunac, Jenifer Saffi, Rosine Guimbaud, Pierre Brousset, Jean-Sébastien Hoffmann

    Janick Selves ... Jean-Sébastien Hoffmann

    Published 27 October 2023

    Mechanisms and consequences of POLE mutations in human cancers.

  • Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
    Open Access
    Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid

    Marija Dubaic, Lucie Peskova, Marek Hampl, Kamila Weissova, Canan Celiker, Natalia A Shylo, Eva Hruba, Michaela Kavkova, Tomas Zikmund, Scott D Weatherbee, Jozef Kaiser, Tomas Barta, Marcela Buchtova

    Marija Dubaic ... Marcela Buchtova

    Published 20 October 2023

    TMEM107 plays a crucial role in early vertebrate eye development and ciliogenesis in the differentiating retina, and its absence leads to eye defects and impaired retinal organoid formation.

  • SBDS<sup>R126T</sup> rescues survival of <em>sbds</em><sup><em>−/−</em></sup> zebrafish in a dose-dependent manner independently of Tp53
    Open Access
    SBDSR126T rescues survival of sbds−/− zebrafish in a dose-dependent manner independently of Tp53

    Usua Oyarbide, Arish N Shah, Morgan Staton, Matthew Snyderman, Adya Sapra, Eliezer Calo, Seth J Corey

    Usua Oyarbide ... Seth J Corey

    Published 10 October 2023

    We created a transgenic line expressing the disease-associated mutation SBDSR126T in the sbds KO zebrafish background. We demonstrated that amount of SBDSR126T is important for development and tp53 pathway activation. Tp53M214K did not rescue neutropenia or survival in the sbds-null zebrafish.

  • Regulation of alternative splicing and polyadenylation in neurons
    Open Access
    Regulation of alternative splicing and polyadenylation in neurons

    Seungjae Lee, Joseph I Aubee, Eric C Lai

    Seungjae Lee ... Eric C Lai

    Published 4 October 2023

    Neurons generate numerous cell-specific isoforms of genes that are expressed more broadly. Here, we review mechanisms that generate neural-specific alternative splicing and 3′UTRs and their biological impacts on the nervous system.

  • Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study
    Open Access
    Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study

    Lung-An Hsu, Semon Wu, Ming-Sheng Teng, Yu-Lin Ko

    Lung-An Hsu ... Yu-Lin Ko

    Published 3 October 2023

    Causal MR study links α-thalassemia-related erythrocyte traits to cardiometabolic risks and diabetes susceptibility in Taiwan.

  • Mitochondrial membrane potential acts as a retrograde signal to regulate cell cycle progression
    Open Access
    Mitochondrial membrane potential acts as a retrograde signal to regulate cell cycle progression

    Choco Michael Gorospe, Gustavo Carvalho, Alicia Herrera Curbelo, Lisa Marchhart, Isabela C Mendes, Katarzyna Niedźwiecka, Paulina H Wanrooij

    Choco Michael Gorospe ... Paulina H Wanrooij

    Published 11 September 2023

    This study finds that decreases in mitochondrial membrane potential serve as a means of mito-cellular signalling to delay the transition of yeast cells from the G1 to the S phase of the cell cycle.

  • The arginine methyltransferase PRMT5 promotes mucosal defense in the intestine
    Open Access
    The arginine methyltransferase PRMT5 promotes mucosal defense in the intestine

    Juan E Hernandez, Cristina Llorente, Shengyun Ma, Kiana T Miyamoto, Saptarshi Sinha, Scarlet Steele, Zihui Xiao, Ching-Jung Lai, Elina I Zuniga, Pradipta Ghosh, Bernd Schnabl, Wendy Jia Men Huang

    Juan E Hernandez ... Wendy Jia Men Huang

    Published 4 September 2023

    Arginine methyltransferase PRMT5 promotes select colonic goblet cell-associated gene programs and facilitates host defense against enteric pathogens.

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