Mouse Small eye results from mutations in a paired-like homeobox-containing gene

Robert E. Hill, Jack Favor, Brigid L.M. Hogan, +7

Nature

Knockout MouseOcular DiseaseDevelopmental BiologyOphthalmologyExperimental Ophthalmology +6

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

Tom Glaser, Lisa I. Jepeal, Janice G. Edwards, +3

Nature Genetics

Ocular DiseaseOphthalmologyMedicineGeneticsOcular Pathology +2

A Humanized Version of Foxp2 Affects Cortico-Basal Ganglia Circuits in Mice

Wolfgang Enard, Sabine Gehre, Kurt Hammerschmidt, +53

Cell

NeuroanatomyMedicinePhysiologyNeuroendocrine MechanismNeurology +8

The mouse <i>Pax2</i> ^1Neu mutation is identical to a human <i>PAX2</i> mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

Jack Favor, Rodica Sandulache, A. Neuhäuser-Klaus, +8

Proceedings of the National Academy of Sciences

Developmental AnomalyKnockout MouseDevelopmental BiologyGenetic DisorderDevelopmental Genetics +11

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

Marion Jeanne, Cassandre Labelle‐Dumais, Jeff Jorgensen, +7

The American Journal of Human Genetics

Col4a2 SecretionHematologyPathologyCause Hemorrhagic StrokeNeurology +2

Molecular Interaction between Projection Neuron Precursors and Invading Interneurons via Stromal-Derived Factor 1 (CXCL12)/CXCR4 Signaling in the Cortical Subventricular Zone/Intermediate Zone

Marie-Catherine Tiveron, Mireille Rossel, Barbara Moepps, +5

Journal of Neuroscience

Projection Neuron PrecursorsNeurotransmissionSdf-1 Receptor Cxcr4Cellular NeurobiologySynaptic Signaling +19

Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus

W. Schmahl, Monika Knoedlseder, Jack Favor, +1

Acta Neuropathologica

Developmental AnomalyDevelopmental BiologyOphthalmologyNeuroanatomyMedicine +9

<i>Ptf1a</i>is essential for the differentiation of GABAergic and glycinergic amacrine cells and horizontal cells in the mouse retina

Hassan Nakhai, Saadettin Sel, Jack Favor, +4

Development

Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development

Nicole Haubst, Joachim Berger, Venugopal Radjendirane, +5

Development

Transcription Factor Pax6Brain DevelopmentMolecular DissectionSplice VariantCerebral Organoid +18

<i>pax2.1</i>is required for the development of thyroid follicles in zebrafish

Thomas Wendl, Klaus Lun, Marina Mione, +4

Development

GeneticsThyroid GlandCellular PhysiologyEmbryologyNew Zebrafish Model +18