Genomes and Genes
Affiliation: Yale University
- Notch and disease: a growing fieldAngeliki Louvi
Department of Neurosurgery and Neurobiology, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, United States
Semin Cell Dev Biol 23:473-80. 2012....
- Presenilin 1 in migration and morphogenesis in the central nervous systemAngeliki Louvi
Department of Neurobiology, Pharmacology and Physiology, University of Chicago, 947 E 58th Street, Chicago, IL 60637, USA
Development 131:3093-105. 2004..Our results demonstrate that presenilin 1 plays a much more important role in brain development than has been assumed, consistent with a pleiotropic involvement of this molecule in cellular signaling...
- Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathologyAngeliki Louvi
Department of Neurosurgery, Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06520, USA
Proc Natl Acad Sci U S A 108:3737-42. 2011..Our findings implicate neural cells in the pathogenesis of CCMs, showing the importance of this pathway in neural/vascular interactions within the neurovascular unit...
- The derivatives of the Wnt3a lineage in the central nervous systemAngeliki Louvi
Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
J Comp Neurol 504:550-69. 2007....
- WNK2 kinase is a novel regulator of essential neuronal cation-chloride cotransportersJesse Rinehart
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut 06510, USA
J Biol Chem 286:30171-80. 2011..These findings suggest a role for WNK2 in the regulation of CCCs in the mammalian brain, with implications for both cell volume regulation and/or GABAergic signaling...
- CCM2 expression parallels that of CCM1Askin Seker
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA
Stroke 37:518-23. 2006..Mutations in CCM2 (MGC4607 or malcavernin) cause familial cerebral cavernous malformation (CCM), an autosomal dominant neurovascular disease. Both the function of this molecule and the pathogenesis of the disease remain elusive...
- Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3Leiling Chen
Department of Neurosurgery, Yale University School of Medicine, New Haven, Conn 06510, USA
Stroke 40:1474-81. 2009..Mutations in the Programmed Cell Death 10 (PDCD10) gene cause autosomal dominant familial cerebral cavernous malformations (CCM3). To date, little is known about the function of this gene and its role in disease pathogenesis...
- Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndromeAlthea A Stillman
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
J Comp Neurol 513:21-37. 2009....
- L-histidine decarboxylase and Tourette's syndromeA Gulhan Ercan-Sencicek
Yale University School of Medicine, New Haven, CT 06520, USA
N Engl J Med 362:1901-8. 2010..Our findings, together with previously published data from model systems, point to a role for histaminergic neurotransmission in the mechanism and modulation of Tourette's syndrome and tics...
- Recessive LAMC3 mutations cause malformations of occipital cortical developmentTanyeri Barak
Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA
Nat Genet 43:590-4. 2011..The discovery of the molecular basis of this unusual occipital malformation furthers our understanding of the complex biology underlying the formation of cortical gyrations...
- CADASIL: a critical look at a Notch diseaseAngeliki Louvi
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA
Dev Neurosci 28:5-12. 2006....
- Notch signalling in vertebrate neural developmentAngeliki Louvi
Department of Neurosurgery, Yale University School of Medicine, P.O. Box 208082, New Haven, Connecticut 06520-8082, USA
Nat Rev Neurosci 7:93-102. 2006....
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsKaya Bilguvar
Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Nature 467:207-10. 2010..These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging...
- Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disordersBetul Bakkaloglu
Program on Neurogenetics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Hum Genet 82:165-73. 2008....
- Cilia in the CNS: the quiet organelle claims center stageAngeliki Louvi
Departments of Neurosurgery and Neurobiology, Yale School of Medicine, New Haven, CT 06520, USA
Neuron 69:1046-60. 2011..We review a fast expanding literature to determine what we now know about the primary cilium in the developing and adult CNS and what new directions should lead to further clarity...
- Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1Sekiya Shibazaki
Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA
Hum Mol Genet 17:1505-16. 2008..Cysts in ADPKD exhibit both increased proliferation and activation of MAPK/ERK, but cyst growth is not prevented by inhibition of ERK1/2 activation...
- WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitabilityKristopher T Kahle
Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
Proc Natl Acad Sci U S A 102:16783-8. 2005..They suggest that WNK3 is part of the Cl(-)/volume-sensing mechanism necessary for the maintenance of cell volume during osmotic stress and the dynamic modulation of GABA neurotransmission...
- Sequence variants in SLITRK1 are associated with Tourette's syndromeJesse F Abelson
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
Science 310:317-20. 2005..Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS...
- PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unitGamze Tanriover
Department of Histology and Embryology, Akdeniz University, Antalya, Turkey
Neurosurgery 62:930-8; discussion 938. 2008..Mutations in the programmed cell death 10 gene, PDCD10, cause the autosomal-dominant familial cerebral cavernous malformation 3 (CCM3). Little is known about the function of this gene in disease pathogenesis...
- The isthmic neuroepithelium is essential for cerebellar midline fusionAngeliki Louvi
Régionalisation Nerveuse CNRS ENS UMR 8542, Ecole Normale Superieure, 46 rue d Ulm, 75005 Paris, France
Development 130:5319-30. 2003....
- Development of Choroid Plexus and the Blood-CSF BarrierAngeliki Louvi; Fiscal Year: 2006....