Translational Genetic Modelling of 3D Craniofacial
Dysmorphology: Elaborating the Facial Phenotype of
Neurodevelopmental Disorders Through the “Prism” of
Schizophrenia

J 2017

Translational Genetic Modelling of 3D Craniofacial Dysmorphology: Elaborating the Facial Phenotype of Neurodevelopmental Disorders Through the “Prism” of Schizophrenia

WADDINGTON, John L., Stanislav KATINA, Colm M. P. O’TUATHAIGH and Adrian W. BOWMAN

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10103 Statistics and probability

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

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

Abstract

V originále

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.

Citovat

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.

@article{1408598,
   author = {Waddington, John L. and Katina, Stanislav and O’Tuathaigh, Colm M. P. and Bowman, Adrian W.},
   article_number = {4},
   doi = {http://dx.doi.org/10.1007/s40473-017-0136-3},
   keywords = {Neurodevelopmental disorders; Craniofacial dysmorphology; Schizophrenia; Mouse models; 3D facial imaging; Geometric morphometrics; Asymmetry},
   language = {eng},
   issn = {2196-2979},
   journal = {Current Behavioral Neuroscience Reports},
   title = {Translational Genetic Modelling of 3D Craniofacial Dysmorphology: Elaborating the Facial Phenotype of Neurodevelopmental Disorders Through the “Prism” of Schizophrenia},
   url = {https://link.springer.com/article/10.1007%2Fs40473-017-0136-3},
   volume = {4},
   year = {2017}
}

TY  - JOUR
ID  - 1408598
AU  - Waddington, John L. - Katina, Stanislav - O’Tuathaigh, Colm M. P. - Bowman, Adrian W.
PY  - 2017
TI  - Translational Genetic Modelling of 3D Craniofacial Dysmorphology: Elaborating the Facial Phenotype of Neurodevelopmental Disorders Through the “Prism” of Schizophrenia
JF  - Current Behavioral Neuroscience Reports
VL  - 4
IS  - 4
SP  - 322-330
EP  - 322-330
PB  - Springer
SN  - 21962979
KW  - Neurodevelopmental disorders
KW  - Craniofacial dysmorphology
KW  - Schizophrenia
KW  - Mouse models
KW  - 3D facial imaging
KW  - Geometric morphometrics
KW  - Asymmetry
UR  - https://link.springer.com/article/10.1007%2Fs40473-017-0136-3
L2  - https://link.springer.com/article/10.1007%2Fs40473-017-0136-3
N2  - 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.
ER  -

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. \textit{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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