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 a Adrian W. BOWMAN

Základní údaje

Originální název

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

Autoři

WADDINGTON, John L. (372 Irsko), Stanislav KATINA (703 Slovensko, garant, domácí), Colm M. P. O’TUATHAIGH (372 Irsko) a Adrian W. BOWMAN (826 Velká Británie a Severní Irsko)

Vydání

Current Behavioral Neuroscience Reports, Springer, 2017, 2196-2979

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10103 Statistics and probability

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Kód RIV

RIV/00216224:14310/17:00100044

Organizační jednotka

Přírodovědecká fakulta

DOI

http://dx.doi.org/10.1007/s40473-017-0136-3

Klíčová slova anglicky

Neurodevelopmental disorders; Craniofacial dysmorphology; Schizophrenia; Mouse models; 3D facial imaging; Geometric morphometrics; Asymmetry

Štítky

NZ, rivok

Změněno: 22. 2. 2018 09:50, doc. PaedDr. RNDr. Stanislav Katina, Ph.D.

Anotace

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 a 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, roč. 4, č. 4, s. 322-330. ISSN 2196-2979. Dostupné z: 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 a 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, roč.~4, č.~4, s.~322-330. ISSN~2196-2979. Dostupné z: https://dx.doi.org/10.1007/s40473-017-0136-3.

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