WADDINGTON, John L., Stanislav KATINA, Colm M. P. O’TUATHAIGH and Adrian W. BOWMAN. Translational Genetic Modelling of 3D Craniofacial Dysmorphology: Elaborating the Facial Phenotype of Neurodevelopmental Disorders Through the “Prism” of Schizophrenia. Current Behavioral Neuroscience Reports. Springer, 2017, vol. 4, No 4, p. 322-330. ISSN 2196-2979. Available from: https://dx.doi.org/10.1007/s40473-017-0136-3.
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Basic information
Original name Translational Genetic Modelling of 3D Craniofacial Dysmorphology: Elaborating the Facial Phenotype of Neurodevelopmental Disorders Through the “Prism” of Schizophrenia
Authors WADDINGTON, John L. (372 Ireland), Stanislav KATINA (703 Slovakia, guarantor, belonging to the institution), Colm M. P. O’TUATHAIGH (372 Ireland) and Adrian W. BOWMAN (826 United Kingdom of Great Britain and Northern Ireland).
Edition Current Behavioral Neuroscience Reports, Springer, 2017, 2196-2979.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 10103 Statistics and probability
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
RIV identification code RIV/00216224:14310/17:00100044
Organization unit Faculty of Science
Doi http://dx.doi.org/10.1007/s40473-017-0136-3
Keywords in English Neurodevelopmental disorders; Craniofacial dysmorphology; Schizophrenia; Mouse models; 3D facial imaging; Geometric morphometrics; Asymmetry
Tags NZ, rivok
Changed by Changed by: doc. PaedDr. RNDr. Stanislav Katina, Ph.D., učo 111465. Changed: 22/2/2018 09:50.
Abstract
Purpose of Review In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the status of craniofacial dysmorphology as a clinically accessible index of brain dysmorphogenesis, the ability of genetically modified mouse models of craniofacial dysmorphology to inform on the underlying dysmorphogenic process and how geometric morphometric techniques in mutant mice can extend quantitative analysis. Recent Findings Mutant mice with disruption of neuregulin-1, a gene associated meta-analytically with risk for schizophrenia, constitute proof-of-concept studies of murine facial dysmorphology in a manner analogous to clinical studies in schizophrenia. Geometric morphometric techniques informed on the topography of facial dysmorphology and identified asymmetry therein. Summary Targeted disruption in mice of genes involved in individual components of developmental processes and analysis of resultant facial dysmorphology using geometric morphometrics can inform on mechanisms of dysmorphogenesis at levels of incisiveness not possible in human subjects.
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