Paul Quinton Thomas

Engineered trophoblast organoids recapitulate molecular and functional features of preeclampsia

This paper develops a genetically engineered trophoblast organoid model of preeclampsia that recapitulates molecular and functional features of the disease.

The LAST mile: Evaluating genetic biocontrol as a supplemental tool for eradicating invasive rodents on islands

This study evaluates genetic biocontrol methods as supplements to toxicant-based eradication of invasive rodents on islands, finding Gravid Lethal to be effective under certain strategies.

Neural crest cell derived DKK1 modulates Wnt signalling in the second heart field to orchestrate cardiac outflow tract development

The paper identifies DKK1 from neural crest cells as a regulator of Wnt signaling in the second heart field, crucial for cardiac outflow tract development and linked to congenital heart disease.

Enhancing gRNA Transcript levels by Reducing the Scaffold Poly-T Tract for Optimal SpCas9- and SaCas9-mediated Gene Editing

This study shows that shortening the 4T poly-T tract in gRNA scaffolds improves transcript levels and editing efficiency, especially under low vector conditions, for both SpCas9 and SaCas9.

Generation and characterisation of mouse models of Duchenne Muscular Dystrophy (DMD)

The paper provides a protocol for generating and characterizing mouse models of Duchenne Muscular Dystrophy using CRISPR-Cas9 and describes methods for phenotypic and molecular analysis.

Megabase-scale Transgene De-Duplication to Generate a Functional Single-Copy Full-Length Humanized DMD Mouse Model

The paper generates a single-copy humanized DMD mouse model by deleting a duplicated transgene to improve the accuracy of CRISPR therapy testing.

Functional analysis of the epilepsy gene Pcdh19 using a novel conditional GFP-reporter mouse model

This paper develops a conditional Pcdh19 knockout mouse model with GFP reporter to study PCDH19's role in brain development and disease.

Investigating the potential of X shredding for mouse genetic biocontrol

This study investigates X chromosome shredding in mice to control population growth but finds it causes spermatogenic block rather than male-biased offspring.

Leveraging a natural murine meiotic drive to suppress invasive populations

This paper proposes a gene drive strategy called tCRISPR to suppress invasive mouse populations by leveraging the t haplotype's biased transmission and inactivating mutations in a female fertility gene.

Antisense oligonucleotide therapy for KCNT1 encephalopathy

This study demonstrates that antisense oligonucleotide therapy reduces seizures and improves survival in a KCNT1 mouse model of encephalopathy.

The Nestin neural enhancer is essential for normal levels of endogenous Nestin in neuroprogenitors but is not required for embryo development

The paper investigates the role of the Nestin neural enhancer in regulating Nes expression during embryonic development and shows it is not essential for embryo viability.

Optimized nickase- and nuclease-based prime editing in human and mouse cells

This paper develops PEA1 plasmids and PE-nuclease systems for efficient prime editing in human and mouse cells, achieving high editing efficiency in some cell lines and fetal mice.

The BMP antagonist Gremlin1 contributes to the development of cortical excitatory neurons, motor balance and fear responses

This study identifies Grem1 as a marker for neuroprogenitors generating cortical glutamatergic neurons and shows that its deletion causes cortical and behavioral defects in mice.

Development of zygotic and germline gene drives in mice

This study investigates CRISPR/Cas9-based gene drives in mice, finding that robust Cas9 expression during meiosis is critical for efficient gene drive generation.

Re-Evaluating One-step Generation of Mice Carrying Conditional Alleles by CRISPR-Cas9-Mediated Genome Editing Technology

The paper re-evaluates the efficiency of a CRISPR-Cas9 method for generating conditional knockout alleles in mice, finding very low success rates and high rates of undesired alleles.

Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 Epilepsy

The paper shows that PCDH19 mutations in females cause abnormal cell sorting in the developing cortex, leading to epilepsy, while males are unaffected due to normal sorting.