Littérature scientifique sur le sujet « CNTNAP2 gene »
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Articles de revues sur le sujet "CNTNAP2 gene"
Varea, Olga, Maria Dolores Martin-de-Saavedra, Katherine J. Kopeikina, Britta Schürmann, Hunter J. Fleming, Jessica M. Fawcett-Patel, Anthony Bach et al. « Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons ». Proceedings of the National Academy of Sciences 112, no 19 (27 avril 2015) : 6176–81. http://dx.doi.org/10.1073/pnas.1423205112.
Texte intégralPapale, Ligia A., Andy Madrid, Qi Zhang, Kailei Chen, Lara Sak, Sündüz Keleş et Reid S. Alisch. « Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders ». Genome Research 32, no 2 (23 décembre 2021) : 266–79. http://dx.doi.org/10.1101/gr.276137.121.
Texte intégralMemis, Idil, Rahul Mittal, Emily Furar, Isaiah White, Rebecca S. Eshraghi, Jeenu Mittal et Adrien A. Eshraghi. « Altered Blood Brain Barrier Permeability and Oxidative Stress in Cntnap2 Knockout Rat Model ». Journal of Clinical Medicine 11, no 10 (11 mai 2022) : 2725. http://dx.doi.org/10.3390/jcm11102725.
Texte intégralAl-Murrani, Amel, Fern Ashton, Salim Aftimos, Alice M. George et Donald R. Love. « Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay ». Case Reports in Genetics 2012 (2012) : 1–4. http://dx.doi.org/10.1155/2012/172408.
Texte intégralFang, Fang, Minxia Ge, Jun Liu, Zengyu Zhang, Hong Yu, Shuilong Zhu, Liwei Xu et Lina Shao. « Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder ». Behavioural Neurology 2021 (28 juin 2021) : 1–6. http://dx.doi.org/10.1155/2021/4150926.
Texte intégralBartolome, Ruby, Tomoko Kaneko-Tarui, Jill Maron et Emily Zimmerman. « The Utility of Speech-Language Biomarkers to Predict Oral Feeding Outcomes in the Premature Newborn ». American Journal of Speech-Language Pathology 29, no 2S (10 juillet 2020) : 1022–29. http://dx.doi.org/10.1044/2019_ajslp-csw18-19-0027.
Texte intégralRanieri, Annaluisa, Iolanda Veneruso, Ilaria La Monica, Maria Grazia Pascale, Lucio Pastore, Valeria D’Argenio et Barbara Lombardo. « Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis : A Case Report ». Medicina 58, no 4 (7 avril 2022) : 522. http://dx.doi.org/10.3390/medicina58040522.
Texte intégralFolia, Vasiliki, Christian Forkstam, Martin Ingvar et Karl Magnus Petersson. « Implicit Artificial Syntax Processing : Genes, Preference, and Bounded Recursion ». Biolinguistics 5, no 1-2 (27 juin 2011) : 105–32. http://dx.doi.org/10.5964/bioling.8835.
Texte intégralMittal, Rea, Ashutosh Kumar, Roger Ladda, Gayatra Mainali et Ermal Aliu. « Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings ». Child Neurology Open 8 (janvier 2021) : 2329048X2110553. http://dx.doi.org/10.1177/2329048x211055330.
Texte intégralDas, Arundhuti, Luca Pagliaroli, Andrea Vereczkei, Eszter Kotyuk, Banrida Langstieh, Zsolt Demetrovics et Csaba Barta. « Association of GDNF and CNTNAP2 gene variants with gambling ». Journal of Behavioral Addictions 8, no 3 (1 septembre 2019) : 471–78. http://dx.doi.org/10.1556/2006.8.2019.40.
Texte intégralThèses sur le sujet "CNTNAP2 gene"
Manett, Taylor. « Investigating the pathogenicity of an autism-related CNTNAP2 missense variant in a novel mouse model ». Electronic Thesis or Diss., Sorbonne université, 2023. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2023SORUS721.pdf.
Texte intégralAutism spectrum disorders (ASD) are neurodevelopmental disorders, defined by deficits in social interaction and restricted or repetitive behavior. ASD show high heritability, shaped by rare monogenic mutations, as well as variations in numerous susceptibility genes. Intriguingly, CNTNAP2, encoding the protein Caspr2, is considered to be one of the major ASD-risk genes, with a large number of heterozygous missense variants identified in patients. Cntnap2 knockout mice display ASD-related behavioral deficits supporting human genetic data. However, the clinical significance of the heterozygous variants has not yet been demonstrated and is still debated. The PhD project aimed to unravel this question by evaluating the pathogenicity of an inherited heterozygous missense CNTNAP2 variant identified in a French ASD patient, I236S, which was predicted to be disease-causing and may be representative of a large class of CNTNAP2 variants. We generated a novel knockin mouse model, the KI-I236S mice, and conducted a study comparing wild-type and KI-I236S heterozygous (HET) mice. Caspr2 is a neuronal cell-adhesion transmembrane glycoprotein originally identified in the juxtaparanodal regions of the nodes of Ranvier in mature myelinated neurons. Recently, studying Cntnap2 knockout mice the lab showed that Caspr2 also acts as a major regulator of axon development and myelination. In the brain, Caspr2 controls axon diameter at early postnatal developmental stages, cortical neuron intrinsic excitability at the onset of myelination, and axon diameter and myelin thickness at adulthood. Caspr2 also modulates axon diameter, myelin thickness and node of Ranvier morphology in peripheral nerves. We thus assessed the impact of the variant I235S on axon development, myelination, and node of Ranvier organization in both the central and peripheral nervous system, as well as thoroughly characterizing the behavior of HET KI-I236S mice, using a battery of tests that may indicate cognitive, motor, and sensorimotor deficits. Interestingly, KI-I236S HET mice display sex-dependent cognitive and somatosensory behavioral deficits as compared to wild-type mice (social interaction slightly decreased in females; heat sensitivity and muscular strength slightly decreased in males). They also show sex-dependent alterations in myelinated axons and unmyelinated sensory C-fibers of the peripheral nervous system. Brain analyses do not show major myelination defects in adult mutant mice, but suggest that the variant could perturb the functions of Caspr2 at the onset of myelination, leading likely to an acceleration of the myelination processes at early stages. Thus, our results indicate that CNTNAP2 heterozygous missense variants such as I236S can affect Caspr2 function in a sex-dependent manner in vivo and suggest that the CNTNAP2 variants of the same class could indeed be pathogenic and contribute to the development of ASD patients, and/or contribute to inter-individual variability in physiological conditions
Nascimento, Patrícia Pereira do [UNESP]. « Polimorfismos dos genes ADA e CNTNAP2 em indivíduos com Transtornos do Espectro do Autismo ». Universidade Estadual Paulista (UNESP), 2014. http://hdl.handle.net/11449/115704.
Texte intégralCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Os Transtornos do Espectro do Autismo (TEA) são afecções neuropsiquiátricas graves que se caracterizam por dificuldades, de início precoce, no domínio da comunicação social, por comportamentos atípicos, repetitivos e interesses restritos. Em cerca de 10 a 25% dos casos a etiologia pode ser esclarecida, o que reflete a natureza complexa e heterogênea da doença. Embora diversos fatores ambientais estejam relacionados com a etiopatogenia, muitos estudos, inclusive com gêmeos, mostram que a participação dos fatores genéticos é inequívoca. A literatura tem revelado, de maneira progressiva, muitos genes e variantes genéticas relacionados com a predisposição a estas afecções. Polimorfismos de nucleotídeo único (SNPs) têm sido considerados marcadores genéticos de predisposição a várias doenças complexas, o que sugere que também podem estar relacionados aos TEA. Há referências da associação de variantes comuns do gene sináptico CNTNAP2 com diferentes fenótipos neuropsiquiátricos e alterações no desenvolvimento da linguagem. SNPs do gene ADA, envolvido em neurotransmissão e metabolismo das purinas, também já foram associados a uma diminuição de atividade enzimática e predisposição ao fenótipo autista. Este estudo objetivou avaliar SNPs destes dois genes em autistas e controles, para investigar uma possível associação com o fenótipo comportamental. Foram avaliados dois SNPs (rs7794745 e rs2710102) do gene CNTNAP2 e o SNP G22A do gene ADA, genotipados em 210 indivíduos com TEA idiopático e em 200 indivíduos controles. A análise molecular foi feita por reação em cadeia da polimerase – polimorfismo de fragmentos de restrição (PCR-RFLP). Para análise estatística foi adotado nível de significância de 5%. Os resultados revelaram associação entre o SNP rs7794745 (OR=1,802, IC95%=1,054-3,083, p=0,042) em homozigose (TT) com a predisposição aos TEA na população estudada. Os indivíduos do sexo ...
Autism Spectrum Disorders (ASD) are severe neuropsychiatric disorders characterized by difficulties with early onset, in the field of social communication, atypical behaviors, restricted and repetitive interests. In about 10-25% of cases the etiology can be clarified, which reflects the complex and heterogeneous nature of the disease. Although several environmental factors are related to the pathogenesis, many studies, including twins, have showed that the involvement of genetic factors is clear. The literature has revealed, progressively, many genes and genetic variants related to the predisposition to these disorders. Single nucleotide polymorphisms (SNPs) have been considered genetic markers of predisposition to various diseases complex, suggesting that can also be related to ASD. There are references of association the common variants of the CNTNAP2 synaptic gene with different neuropsychiatric phenotypes and changes in language development. SNPs of ADA gene, involved in neurotransmission and metabolism of purines, have also been associated with a decrease in enzyme activity and predisposition to autism phenotype. This study aimed to evaluate SNPs of these two genes in autistic patients to investigate a possible association with the behavioral phenotype. It was evaluated two SNPs (rs7794745 and rs2710102) of the CNTNAP2 gene and the SNP G22A of the ADA gene, genotyped in 210 individuals with idiopathic ASD and 200 control subjects. Molecular analysis was performed by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). A 5% alpha error was considered significant in statistical analysis. The results revealed association between the SNP rs7794745 (OR = 1.802; 95%CI = 1.054 - 3.083; p = 0.042) in homozygous (TT) with predisposition to ASD at our study population. Affected individuals males also showed a significantly higher frequency of this polymorphism (p = 0.021) compared to men in the control group. For ...
Nascimento, Patrícia Pereira do. « Polimorfismos dos genes ADA e CNTNAP2 em indivíduos com Transtornos do Espectro do Autismo / ». São José do Rio Preto, 2014. http://hdl.handle.net/11449/115704.
Texte intégralBanca: Ana Elizabete Silva
Banca: Karina Griesi Oliveira
Resumo: Os Transtornos do Espectro do Autismo (TEA) são afecções neuropsiquiátricas graves que se caracterizam por dificuldades, de início precoce, no domínio da comunicação social, por comportamentos atípicos, repetitivos e interesses restritos. Em cerca de 10 a 25% dos casos a etiologia pode ser esclarecida, o que reflete a natureza complexa e heterogênea da doença. Embora diversos fatores ambientais estejam relacionados com a etiopatogenia, muitos estudos, inclusive com gêmeos, mostram que a participação dos fatores genéticos é inequívoca. A literatura tem revelado, de maneira progressiva, muitos genes e variantes genéticas relacionados com a predisposição a estas afecções. Polimorfismos de nucleotídeo único (SNPs) têm sido considerados marcadores genéticos de predisposição a várias doenças complexas, o que sugere que também podem estar relacionados aos TEA. Há referências da associação de variantes comuns do gene sináptico CNTNAP2 com diferentes fenótipos neuropsiquiátricos e alterações no desenvolvimento da linguagem. SNPs do gene ADA, envolvido em neurotransmissão e metabolismo das purinas, também já foram associados a uma diminuição de atividade enzimática e predisposição ao fenótipo autista. Este estudo objetivou avaliar SNPs destes dois genes em autistas e controles, para investigar uma possível associação com o fenótipo comportamental. Foram avaliados dois SNPs (rs7794745 e rs2710102) do gene CNTNAP2 e o SNP G22A do gene ADA, genotipados em 210 indivíduos com TEA idiopático e em 200 indivíduos controles. A análise molecular foi feita por reação em cadeia da polimerase - polimorfismo de fragmentos de restrição (PCR-RFLP). Para análise estatística foi adotado nível de significância de 5%. Os resultados revelaram associação entre o SNP rs7794745 (OR=1,802, IC95%=1,054-3,083, p=0,042) em homozigose (TT) com a predisposição aos TEA na população estudada. Os indivíduos do sexo ...
Abstract: Autism Spectrum Disorders (ASD) are severe neuropsychiatric disorders characterized by difficulties with early onset, in the field of social communication, atypical behaviors, restricted and repetitive interests. In about 10-25% of cases the etiology can be clarified, which reflects the complex and heterogeneous nature of the disease. Although several environmental factors are related to the pathogenesis, many studies, including twins, have showed that the involvement of genetic factors is clear. The literature has revealed, progressively, many genes and genetic variants related to the predisposition to these disorders. Single nucleotide polymorphisms (SNPs) have been considered genetic markers of predisposition to various diseases complex, suggesting that can also be related to ASD. There are references of association the common variants of the CNTNAP2 synaptic gene with different neuropsychiatric phenotypes and changes in language development. SNPs of ADA gene, involved in neurotransmission and metabolism of purines, have also been associated with a decrease in enzyme activity and predisposition to autism phenotype. This study aimed to evaluate SNPs of these two genes in autistic patients to investigate a possible association with the behavioral phenotype. It was evaluated two SNPs (rs7794745 and rs2710102) of the CNTNAP2 gene and the SNP G22A of the ADA gene, genotyped in 210 individuals with idiopathic ASD and 200 control subjects. Molecular analysis was performed by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). A 5% alpha error was considered significant in statistical analysis. The results revealed association between the SNP rs7794745 (OR = 1.802; 95%CI = 1.054 - 3.083; p = 0.042) in homozygous (TT) with predisposition to ASD at our study population. Affected individuals males also showed a significantly higher frequency of this polymorphism (p = 0.021) compared to men in the control group. For ...
Mestre
Kühborth, Karsten [Verfasser], et Dan [Akademischer Betreuer] Rujescu. « Einfluss genetischer Polymorphismen des CNTNAP2 Gens auf Schizophrenie und kognitive Phänotypen / Karsten Kühborth ; Betreuer : Dan Rujescu ». München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2017. http://d-nb.info/1130587266/34.
Texte intégralActes de conférences sur le sujet "CNTNAP2 gene"
N, Nagashree, Premjyoti Patil, Shantakumar Patil et Mallikarjun Kokatanur. « Alpha Beta Pruned UNet - A Modified UNet Framework to Segment MRI Brain Image to Analyse the Effects of CNTNAP2 Gene towards Autism Detection ». Dans 2021 3rd International Conference on Computer Communication and the Internet (ICCCI). IEEE, 2021. http://dx.doi.org/10.1109/iccci51764.2021.9486783.
Texte intégralRapports d'organisations sur le sujet "CNTNAP2 gene"
White, Stephanie A. Role of Autism Susceptibility Gene, CNTNAP2, in Neural Circuitry for Vocal Communication. Fort Belvoir, VA : Defense Technical Information Center, octobre 2012. http://dx.doi.org/10.21236/ada575711.
Texte intégral