D
Dianne Gerrelli
Researcher at University College London
Publications - 36
Citations - 3207
Dianne Gerrelli is an academic researcher from University College London. The author has contributed to research in topics: Neural tube & Neurulation. The author has an hindex of 25, co-authored 36 publications receiving 2913 citations. Previous affiliations of Dianne Gerrelli include UCL Institute of Child Health & Wellcome Trust.
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Journal ArticleDOI
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.
TL;DR: The homologous pattern of FOXP2/Foxp2 expression in human and mouse argues for a role for this gene in development of motor-related circuits throughout mammalian species.
Journal ArticleDOI
Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure.
Patricia Ybot-Gonzalez,Dawn Savery,Dianne Gerrelli,Massimo Signore,Claire E. Mitchell,Clare Faux,Nicholas D. E. Greene,Andrew J. Copp +7 more
TL;DR: These findings identify a cell-autonomous defect of convergent extension, requiring PCP signalling via RhoA-Rho kinase, during the development of severe neural tube defects in the mouse.
Journal ArticleDOI
Heterozygous mutations of OTX2 cause severe ocular malformations.
Nicola K. Ragge,Nicola K. Ragge,Nicola K. Ragge,Alison Brown,Charlotte M. Poloschek,Birgit Lorenz,R. Alex Henderson,Michael P. Clarke,Isabelle Russell-Eggitt,Alistair R. Fielder,Dianne Gerrelli,Juan Pedro Martinez-Barbera,Piers Ruddle,Jane A. Hurst,J. Richard O. Collin,Alison Salt,Alison Salt,Simon T. Cooper,Pamela J. Thompson,Sanjay M. Sisodiya,Kathleen A Williamson,David R. FitzPatrick,Veronica van Heyningen,Isabel M. Hanson +23 more
TL;DR: Using a candidate-gene approach, heterozygous coding-region changes in the homeobox gene OTX2 are identified in eight families with ocular malformations and supported by data from these four families support a simple model in which OTX1 heterozygOUS loss-of-function mutations cause ocularmalformations.
Journal ArticleDOI
The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
Helen R. Dawe,Ursula M Smith,Andrew R. Cullinane,Dianne Gerrelli,Phillip Cox,Jose L. Badano,Sarah Blair-Reid,Nisha Sriram,Nicholas Katsanis,Tania Attié-Bitach,Simon C. Afford,Andrew J. Copp,Deirdre Kelly,Keith Gull,Colin A. Johnson +14 more
TL;DR: Co-immunoprecipitation experiments show that wild-type meckelin and MKS1 interact and, in three-dimensional tissue culture assays, epithelial branching morphogenesis was severely impaired, suggesting that MKS proteins mediate a fundamental developmental stage of ciliary formation and epithelial morphogenesis.
Journal ArticleDOI
Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways
Preeti Bakrania,Maria Efthymiou,Johannes C. Klein,Alison Salt,Alison Salt,David J. Bunyan,David J. Bunyan,Alexander W. Wyatt,Chris P. Ponting,Angela Martin,Steven Williams,Victoria Lindley,Joanne Gilmore,Marie Restori,Anthony G. Robson,Magella M. Neveu,Graham E. Holder,J. Richard O. Collin,David O. Robinson,David O. Robinson,Peter Farndon,Heidi Johansen-Berg,Dianne Gerrelli,Nicola K. Ragge,Nicola K. Ragge,Nicola K. Ragge +25 more
TL;DR: It is proposed that BMP4 is a major gene for AM and/or retinal dystrophy and brain anomalies and may be a candidate gene for myopia and poly/syndactyly.