Lydia Teboul

Combining Cas9 and dCas9 facilitates genome editing in genes associated with viability or welfare issues, or within paralogous gene clusters

This study shows that combining dCas9 and Cas9 improves viability and reduces off-target effects when editing genes linked to viability or paralogous clusters.

The Preclinical Animal Network (PCAN): Integrative high-throughput phenotyping of standardized mouse models for Prader-Willi syndrome

The paper introduces PCAN, a resource integrating high-throughput phenotyping of mouse models for Prader-Willi syndrome to evaluate phenotypes and therapeutic strategies.

The splicing factor kinase SRPK1 is a therapeutic target for Peripheral Vascular Disease

This paper shows that inhibiting SRPK1 in monocytes promotes angiogenesis by altering VEGF splicing from anti-angiogenic VEGF-A165b to pro-angiogenic VEGF-A165a in both human and mouse models of peripheral arterial disease.

Establishing Comprehensive Transthoracic Echocardiography Reference Ranges for Mouse Models: Insights into the Impact of Anesthesia, Sex, and Age

This study establishes TTE reference ranges for mice, showing anesthesia significantly affects cardiac function, with minimal sex differences and modest age-related changes.

Generation of C9orf72h370 mice, an intron 1 humanised C9orf72 repeat-expansion knock-in model

The paper generates a mouse model with a humanised C9orf72 repeat expansion to study ALS and FTD, and demonstrates a method for creating such repeat expansions in genomic sequences.

Impact of Essential Genes on the Success of Genome Editing Experiments Generating 3,313 New Genetically Engineered Mouse Lines

The paper analyzes 3,313 genetically engineered mouse lines to identify gene essentiality as the main factor affecting Cas9-based genome editing success.

Application of long-read sequencing for robust identification of correct alleles in genome edited animals

This study uses long-read sequencing to accurately identify correct alleles in genome-edited animals despite mosaicism and complex edits.

Mendelian gene identification through mouse embryo viability screening

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing

This study investigates the role of Neuroplastin in mammalian hearing, showing that only the Np55 isoform is essential for cochlear hair cell function and that its absence interacts genetically with Cdh23 mutations to cause hearing loss.

Generation, quality control, and analysis of the first genomically humanised knock-in mice for the ALS/FTD genes SOD1, TARDBP (TDP-43), and FUS

The paper creates genomically humanised knock-in mice for ALS/FTD genes SOD1, TARDBP, and FUS, showing they express human proteins at endogenous levels and are phenotypically normal.

LAMA: Automated image analysis for developmentalphenotyping of mouse embryos

LAMA automates 3D image analysis for mouse embryo phenotyping, integrating with an anatomical atlas to annotate dysmorphologies.

Diverse Species-Specific Phenotypic Consequences of Loss of Function Sorting Nexin 14 Mutations

This study examines the phenotypic effects of SNX14 loss-of-function mutations in mice and zebrafish, revealing species-specific consequences despite conserved biochemical roles.

Ap2s1 mutation in mice causes familial hypocalciuric hypercalcemia type 3

This study creates a mouse model with an AP2S1 mutation causing FHH3, showing hypercalcemia and demonstrating cinacalcet's effect on calcium levels.

Human and mouse essentiality screens as a resource for disease gene discovery

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.