Characterization of the First Definitive Hematopoietic Stem Cells in the AGM and Liver of the Mouse Embryo

María J. Sánchez, A. Holmes, Colin G. Miles, +1

Immunity

Embryonic Stem CellDevelopmental BiologyMedicineAdult Stem CellHematology +8

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

Víctor L. Ruiz‐Pérez, Helen J. Blair, M. Elena Rodriguez-Andres, +6

Development

PathologyOrthopaedic SurgeryMusculoskeletal ResearchEmbryologyEvc-like Syndrome +18

A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys–Drash syndrome

C.E. Patek, Melissa H. Little, Stewart Fleming, +11

Proceedings of the National Academy of Sciences

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen, +16

The American Journal of Human Genetics

Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia

Ralf Kist, Michelle Watson, Xiaomeng Wang, +4

Human Molecular Genetics

GeneticsMolecular GeneticsEpigeneticsPax9 Gene DosageKnockout Mouse +14

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

Ann Marie Hynes, Rachel H. Giles, Shalabh Srivastava, +12

Proceedings of the National Academy of Sciences

Expression of the Ly-6E.1 (Sca-1) transgene in adult hematopoietic stem cells and the developing mouse embryo

Colin G. Miles, María J. Sánchez, Angus M. Sinclair, +1

Development

Stem Cell BiologyEmbryonic Stem CellCell LineageDevelopmental BiologyMedicine +11

Targeted exon skipping of a <i>CEP290</i> mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Simon A. Ramsbottom, Elisa Molinari, Shalabh Srivastava, +9

Proceedings of the National Academy of Sciences

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

Shalabh Srivastava, Simon A. Ramsbottom, Elisa Molinari, +7

Human Molecular Genetics

Joubert SyndromeLysosomal Storage DiseaseRenal PathologyPathologyDisease Gene Identification +20

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

Gisela G. Slaats, Joshua C. Saldivar, Julien Bacal, +12

Journal of Clinical Investigation

GeneticsCep290-associated Joubert SyndromeMolecular BiologyCell DeathMolecular Genetics +16