Annekatrien Boel

Smad3 deficiency attenuates disease severity in a zebrafish model for Smad6-related aortic disease

Michiel Vanhooydonck, Maxim Verlee, Marta Santana Silva, Lore Pottie et autres

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O-294 Spindle transfer rescues impaired fertilization linked to Patl2-mediated dysregulation of maternal mRNA translation

A Cardona Barberán, Emin Araftpoor, A Christodoulaki, Muhammad Fakhar-I-Adil et autres

Abstract Study question Can single-cell, mass spectrometry-based proteomics reveal proteins underlying the reduced fertilizing capacity of Patl2-/- MII mouse oocytes? Is it possible to treat Patl2-related infertility? Summary answer Reduced protein synthesis from maternal mRNAs is detected in Patl2-/- MIIs, which can …

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Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish

Michiel Vanhooydonck, Elyne De Neef, Hanna De Saffel, Annekatrien Boel et autres

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Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish

Michiel Vanhooydonck, Elyne De Neef, Hanna De Saffel, Annekatrien Boel et autres

ABSTRACT Zebrafish serve as a valuable model organism for studying human genetic diseases. While generating knockout lines is relatively straightforward, introducing precise disease-specific genetic variants by knock-in (KI) remains challenging. KI lines, however, enable more accurate studies of molecular and physiological consequences …

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P-794 Unraveling the function of GATA2 and GATA3 in mouse blastocyst formation via CRISPR/Cas9 gene editing

Sofie Declercq, Gwenny Cosemans, Annekatrien Boel, Dominic Stoop et autres

Abstract Study question What is the effect of the CRISPR/Cas9 mediated knock-out (KO) of Gata2 and Gata3 on mouse preimplantation development/blastocyst formation? Summary answer Efficient generation of Gata3/Gata2 KO mouse embryos was achieved. Gata3 and Gata2 KO embryos could form blastocysts, suggesting …

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P-191 Pronuclear transfer overcomes embryonic developmental arrest in Padi6-deficient mice

Hongyu Mu, Annekatrien Boel, S De Norre, Noemi Castelluccio et autres

Abstract Study question Can pronuclear transfer (PNT) overcome embryonic developmental arrest (EDA) observed in the created Padi6-/- mouse model? Summary answer Applying PNT significantly improved the blastocyst rate of Padi6-/- zygotes, indicating its potential in overcoming female-related infertility. What is known already …

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Various repair events following CRISPR/Cas9-based mutational correction of an infertility-related mutation in mouse embryos

Bieke Bekaert, Annekatrien Boel, Andreï Rybouchkin, Gwenny Cosemans et autres

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Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture

Michiel Vanhooydonck, Maxim Verlee, Marta Santana Silva, Lore Pottie et autres

ABSTRACT Thoracic aortic aneurysm and dissection (TAAD) associates with a high mortality rate. Despite the existence of different mouse models for TAAD, the underlying disease mechanisms remain elusive. Treatment options are limited and mainly consist of surgical repair at critical aortic diameters …

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Pronuclear transfer rescues poor embryo development of in vitro -grown secondary mouse follicles

A Christodoulaki, Haitang He, Min Zhou, Chloë De Roo et autres

Abstract STUDY QUESTION Is pronuclear transfer (PNT) capable of restoring embryo developmental arrest caused by cytoplasmic inferiority of in vitro-grown (IVG) mouse oocytes? SUMMARY ANSWER PNT to in vivo matured cytoplasm significantly improved embryo development of IVG mouse oocytes, leading to living, …

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High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

A Cardona Barberán, Ramesh Reddy Guggilla, Cora Colenbier, Emma Van der Velden et autres

Abstract STUDY QUESTION What is the frequency of PLCZ1, ACTL7A, and ACTL9 variants in male patients showing fertilization failure after ICSI, and how effective is assisted oocyte activation (AOA) for them? SUMMARY ANSWER Male patients with fertilization failure after ICSI manifest variants …

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Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos

Bieke Bekaert, Annekatrien Boel, Lisa De Witte, Winter Vandenberghe et autres

Human germline gene correction by targeted nucleases holds great promise for reducing mutation transmission. However, recent studies have reported concerning observations in CRISPR-Cas9-targeted human embryos, including mosaicism and loss of heterozygosity (LOH). The latter has been associated with either gene conversion or …

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P-431 Effect of biphasic CAPA-IVM on ovarian tissue oocytes of transgender men

Muhammad Fakhar-I-Adil, A Christodoulaki, Annekatrien Boel, Susana M. Chuva de Sousa Lopes et autres

Abstract Study question Can CAPA-IVM (Biphasic in-vitro maturation) with C-type natriuretic peptide (CNP), followed by in vitro maturation (IVM) improve ovarian tissue oocyte (OTO) maturation in transgender patients? Summary answer Biphasic CAPA-IVM did not show any significant difference in maturation competence and …

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