Ramesh Reddy Guggilla

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

Arantxa 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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P-228 Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders

Noemi Castelluccio, Ramesh Reddy Guggilla, Andreï Rybouchkin, Dominic Stoop et autres

Abstract Study question Can a single blastomere or trophectoderm (TE) biopsy accurately reflect the heteroplasmy levels of the whole embryo for mitochondrial DNA (mtDNA) disorders? Summary answer Heteroplasmy levels of single blastomere and TE are comparable to those of the rest of …

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Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization

Olivier Tytgat, Maoxing Tang, Willem van Snippenberg, Annekatrien Boel et autres

BACKGROUND: The quantification of mitochondrial DNA heteroplasmy for the diagnosis of mitochondrial disease or after mitochondrial donation, is performed mainly using next-generation sequencing strategies (NGS). Digital PCR (dPCR) has the potential to offer an accurate alternative for mutation load quantification. METHODS: We …

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Comparative analysis of mouse and human preimplantation development following POU5F1 CRISPR/Cas9 targeting reveals interspecies differences

Panagiotis Stamatiadis, Annekatrien Boel, Gwenny Cosemans, Mina Popovic et autres

STUDY QUESTION: What is the role of POU class 5 homeobox 1 (POU5F1) in human preimplantation development and how does it compare with the mouse model? SUMMARY ANSWER: POU5F1 is required for successful development of mouse and human embryos to the blastocyst …

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A proof-of-concept study to investigate DNA repair mechanisms in the human embryo after the application of CRISPR/Cas9 gene editing in the germ line

Bieke Bekaert, Annekatrien Boel, Lisa De Witte, Mina Popovic et autres

Germline nuclear transfer to overcome mitochondrial disease and female infertility

Maoxing Tang, Annekatrien Boel, Ramesh Reddy Guggilla, Bieke Bekaert et autres

Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants

Miao Tang, Ramesh Reddy Guggilla, Yannick Gansemans, Margot Van der Jeught et autres

Prevention of mitochondrial DNA (mtDNA) diseases may currently be possible using germline nuclear transfer (NT). However, scientific evidence to compare efficiency of different NT techniques to overcome mtDNA diseases is lacking. Here, we performed four types of NT, including first or second …

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The use of pronuclear transfer to overcome infertility disorders in mice

Björn Heindryckx, Annekatrien Boel, Panagiotis Stamatiadis, Margot Van der Jeught et autres

Heterozygous mutations in PLCZ1 are associated with fertilization failure after ICSI

Ramesh Reddy Guggilla, Annekatrien Boel, Minerva Ferrer Buitrago, Davina Bonte et autres

Genome editing by CRISPR-Cas9 reveals that pre-implantation development in the mouse is compromised in Pou5f1-null embryos

Panagiotis Stamatiadis, Annekatrien Boel, Margot Van der Jeught, Bieke Bekaert et autres

Mutations in the sperm-activating factor PLCZ1 causing fertilization failure after ICSI lead to partial hydatidiform moles

Ramesh Reddy Guggilla, Minerva Ferrer Buitrago

Polar body transfer in a mouse model to overcome transmission of mitochondrial diseases

Maoxing Tang, Ramesh Reddy Guggilla, Minerva Ferrer Buitrago