| 5 |
Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism
|
|
El-Kordi, Ahmed; Winkler, Daniela; Hammerschmidt, Kurt; Kästner, Anne; Krueger, Dilja; Ronnenberg, Anja; Ritter, Caroline; Jatho, Jasmin; Radyushkin, Konstantin; Bourgeron, Thomas; Fischer, Julia; Brose, Nils; Ehrenreich, Hannelore
|
|
In: ISSN: 0166-4328 ; EISSN: 1872-7549 ; Behavioural Brain Research ; https://hal-pasteur.archives-ouvertes.fr/pasteur-01580131 ; Behavioural Brain Research, Elsevier, 2013, 251 (1), pp.41 - 49. ⟨10.1016/j.bbr.2012.11.016⟩ (2013)
|
|
Abstract:
International audience ; Autism is the short name of a complex and heterogeneous group of disorders (autism spectrum disorders, ASD) with several lead symptoms required for classification, including compromised social interaction, reduced verbal communication and stereotyped repetitive behaviors/restricted interests. The etiology of ASD is still unknown in most cases but monogenic heritable forms exist that have provided insights into ASD pathogenesis and have led to the notion of autism as a 'synapse disorder'. Among the most frequent monogenic causes of autism are loss-of-function mutations of the NLGN4X gene which encodes the synaptic cell adhesion protein neuroligin-4X (NLGN4X). We previously described autism-like behaviors in male Nlgn4 null mutant mice, including reduced social interaction and ultrasonic communication. Here, we extend the phenotypical characterization of Nlgn4 null mutant mice to both genders and add a series of additional autism-relevant behavioral readouts. We now report similar social interaction and ultrasonic communication deficits in females as in males. Furthermore, aggression, nest-building parameters, as well as self-grooming and circling as indicators of repetitive behaviors/stereotypies were explored in both genders. The construction of a gender-specific autism severity composite score for Nlgn4 mutant mice markedly diminishes population/sample heterogeneity typically obtained for single tests, resulting in p values of <0.00001 and a genotype predictability of 100% for male and of >83% for female mice. Taken together, these data underscore the similarity of phenotypical consequences of Nlgn4/NLGN4X loss-of-function in mouse and man, and emphasize the high relevance of Nlgn4 null mutant mice as an ASD model with both construct and face validity.
|
|
Keyword:
[SCCO]Cognitive science; [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health; [SDV]Life Sciences [q-bio]; Animal; ASD; Gender differences; Grooming; Knockout; MESH: Animals; MESH: Autistic Disorder; MESH: Behavior; MESH: Carrier Proteins; MESH: Cell Adhesion Molecules; MESH: Disease Models; MESH: Female; MESH: Genetic Predisposition to Disease; MESH: Grooming; MESH: Male; MESH: Membrane Proteins; MESH: Mice; MESH: Phenotype; MESH: Severity of Illness Index; MESH: Sex Characteristics; MESH: Social Behavior; MESH: Stereotyped Behavior; MESH: Vocalization; Nest building; Neuronal; Repetitive behaviors; Social interaction; Stereotypies; Ultra-sound vocalization
|
|
URL: https://doi.org/10.1016/j.bbr.2012.11.016
https://hal-pasteur.archives-ouvertes.fr/pasteur-01580131
|
|
BASE
|
|
Hide details
|
|
|
| 6 |
Robust Module-based Data Management
|
|
|
|
In: ISSN: 1041-4347 ; IEEE Transactions on Knowledge and Data Engineering ; https://hal.inria.fr/hal-00671004 ; IEEE Transactions on Knowledge and Data Engineering, Institute of Electrical and Electronics Engineers, 2013, Transactions on Knowledge and Data Engineering, 25 (3), pp.648-661. ⟨10.1109/TKDE.2011.255⟩ (2013)
|
|
BASE
|
|
Show details
|
|
|
| 7 |
Divergent Viewpoints about Lineups: What Policy for the Identification of Criminals?
|
|
|
|
In: ISSN: 1162-9088 ; EISSN: 1878-3457 ; European Review of Applied Psychology / Revue Européenne de Psychologie Appliquée ; https://hal.parisnanterre.fr//hal-01473265 ; European Review of Applied Psychology / Revue Européenne de Psychologie Appliquée, Elsevier, 2013, 63 (5), pp.257-265. ⟨10.1016/j.erap.2013.07.008⟩ (2013)
|
|
BASE
|
|
Show details
|
|
|
| 8 |
Uncovering the Role of Community Health Worker/Lay Health Worker Programs in Addressing Health Equity for Immigrant and Refugee Women in Canada: An Instrumental and Embedded Qualitative Case Study
|
|
|
|
BASE
|
|
Show details
|
|
|
| 12 |
Intercultural relationships: assessing East and South East Asian international students' adaptation levels at universities in Aotearoa/New Zealand
|
|
|
|
BASE
|
|
Show details
|
|
|
| 13 |
Tempo and the perception of sentence modality
|
|
|
|
In: ISSN: 1868-6354 ; Laboratory Phonology : Journal of the Association for Laboratory Phonology ; https://hal.archives-ouvertes.fr/hal-01486670 ; Laboratory Phonology : Journal of the Association for Laboratory Phonology, De Gruyter, 2013, 4 (1), pp.191-220. ⟨10.1515/lp-2013-0008⟩ (2013)
|
|
BASE
|
|
Show details
|
|
|
| 14 |
Color perception involves color representations firstly at a semantic level and then at a lexical level
|
|
|
|
In: ISSN: 1612-4782 ; EISSN: 1612-4790 ; Cognitive Processing ; https://hal.parisnanterre.fr//hal-01468307 ; Cognitive Processing, Springer Verlag, 2013, 14 (1), pp.19-29. ⟨10.1007/s10339-012-0527-z⟩ (2013)
|
|
BASE
|
|
Show details
|
|
|
| 15 |
From Functional to Distributional Models
|
|
|
|
In: Quantum Physics and Logic 2013 ; https://hal-lirmm.ccsd.cnrs.fr/lirmm-00840150 ; Quantum Physics and Logic 2013, Jul 2013, Barcelona, Spain. pp.17 (2013)
|
|
BASE
|
|
Show details
|
|
|
| 16 |
РЕПРЕЗЕНТАЦИЯ БАЗИСНЫХ ЭМОЦИЙ ЛЮБВИ И НЕНАВИСТИ В АМЕРИКАНСКОЙ ПАРЕМИОЛОГИИ
|
|
Яковлева, С.. - : Общество с ограниченной ответственностью "Издательский Дом "Академия Естествознания", 2013
|
|
BASE
|
|
Show details
|
|
|
| 18 |
Combining PCFG-LA models with dual decomposition: a case study with function labels and binarization
|
|
|
|
In: Le Roux, Joseph, Rozenknop, Antoine and Foster, Jennifer orcid:0000-0002-7789-4853 (2013) Combining PCFG-LA models with dual decomposition: a case study with function labels and binarization. In: International Conference on Empirical Methods in Natural Language Processing, 18-21 Oct 2013, Seattle, WA. (2013)
|
|
BASE
|
|
Show details
|
|
|
| 19 |
К вопросу о семантике глагольных аналитических сочетаний в современных английском и лезгинском языках
|
|
НУРУТДИНОВА ЭМИЛИЯ АБДУЛМЕДЖИДОВНА. - : Федеральное государственное бюджетное образовательное учреждение высшего профессионального образования «Тамбовский государственный университет имени Г. Р. Державина», 2013
|
|
BASE
|
|
Show details
|
|
|
| 20 |
НЕПРЕРЫВНОЕ РАСПОЗНАВАНИЕ БАЗОВЫХ ЖЕСТОВ В РЕАЛЬНОМ ВРЕМЕНИ С ПРИМЕНЕНИЕМ СКРЫТЫХ МАРКОВСКИХ МОДЕЛЕЙ
|
|
КРАСИЛЬНИКОВ ЭДУАРД МАНСУРОВИЧ. - : Федеральное государственное автономное образовательное учреждение высшего образования «Казанский (Приволжский) федеральный университет», 2013
|
|
BASE
|
|
Show details
|
|
|
|
|
