Marie‐Christine Birling

Rspo1 dependent WNT signaling safeguards ovarian development by suppressing androgen signaling

This study shows RSPO1/WNT/B-catenin signaling suppresses androgen signaling during ovarian development in mice, with androgen receptor inhibition rescuing development in mutants.

Compromised striatal structure and function in mouse models of RARB-related disorder

This study investigates RARB-RD mouse models and finds that both GOF and DN variants compromise striatal structure and function, with transcriptional effects more severe than a null allele.

Partial Bypass of Frataxin Deficiency by ISCU M141I Restores Cytosolic and Nuclear FeS Cluster Assembly

The paper shows that the ISCU M141I variant partially rescues Fe-S cluster assembly in FXN-deficient cells, preserving nuclear and cytosolic Fe-S proteins but not mitochondrial function.

Disentangling Schwann Cell and Neuronal TRPA1 Function in Mouse Models of Familial Episodic Pain Syndrome

This study investigates the cell-specific roles of mutant TRPA1 in FEPS using mouse models, showing distinct contributions of neuronal and Schwann cell TRPA1 to pain mechanisms.

Developmental senescence profiling reveals Eda2r as a common mediator in the core senescence program

The paper identifies Eda2r as a key mediator in both developmental and pathological senescence by profiling senescent cells in mouse limb development and comparing them to in vitro and in vivo models.

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.

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis via actomyosin dynamics deregulations

This study shows that Dyrk1a regulates interneuron migration via actomyosin dynamics, leading to cortical GABAergic system defects and phenotypes seen in DYRK1A-haploinsufficiency syndrome.

AUTS2 gene dosage affects synaptic AMPA receptors via a local dendritic spine AUTS2-TTC3-AKT-mTORC1 signaling dysfunction

This study shows that AUTS2 gene dosage affects synaptic AMPA receptors through the AUTS2-TTC3-AKT-mTORC1 pathway, leading to behavioral and cognitive impairments in mice.

Ts66Yah, an upgraded Ts65Dn mouse model for Down syndrome, for only the region homologous to Human chromosome 21

The paper introduces a new mouse model, Ts66Yah, for Down syndrome that replicates DS cognitive features and reveals genetic interactions between triplicated regions homologous to Hsa21 and unrelated regions.

A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing and neurological disorders

This paper describes a conditional Dync1h1 mouse model to study dynein's role in neuronal growth and neurological disorders, finding accelerated growth and mild impairments in heterozygous animals.

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

This study investigates the effects of Dyrk1a gene dosage in glutamatergic neurons on cognitive deficits in MRD7 and Down syndrome mouse models, finding specific roles in long-term explicit memory.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

A resource of targeted mutant mouse lines for 5,061 genes

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.

BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments

This paper shows that BIN1 overexpression in mice leads to early structural and functional impairments in hippocampal pathways associated with Alzheimer's disease, independent of A-beta changes.

Genetic ablation of SOD1G37R selectively from corticofugal projection neurons protects corticospinal neurons from degeneration without affecting ALS onset and progression

The paper shows that removing mutant SOD1G37R from corticofugal projection neurons prevents their degeneration but does not affect ALS onset or progression.

Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a