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Thematische Bibliographien / CNTNAP2 gene

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Auswahl der wissenschaftlichen Literatur zum Thema „CNTNAP2 gene“

Autor: Grafiati

Veröffentlicht am 18. Mai 2024

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Zeitschriftenartikel zum Thema "CNTNAP2 gene"

1

Varea, Olga, Maria Dolores Martin-de-Saavedra, Katherine J. Kopeikina, 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 (2015): 6176–81. http://dx.doi.org/10.1073/pnas.1423205112.

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Central glutamatergic synapses and the molecular pathways that control them are emerging as common substrates in the pathogenesis of mental disorders. Genetic variation in the contactin associated protein-like 2 (CNTNAP2) gene, including copy number variations, exon deletions, truncations, single nucleotide variants, and polymorphisms have been associated with intellectual disability, epilepsy, schizophrenia, language disorders, and autism. CNTNAP2, encoded by Cntnap2, is required for dendritic spine development and its absence causes disease-related phenotypes in mice. However, the mechanisms

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2

Papale, Ligia A., Andy Madrid, Qi Zhang, et al. "Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders." Genome Research 32, no. 2 (2021): 266–79. http://dx.doi.org/10.1101/gr.276137.121.

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Mouse knockouts of Cntnap2 show altered neurodevelopmental behavior, deficits in striatal GABAergic signaling, and a genome-wide disruption of an environmentally sensitive DNA methylation modification (5-hydroxymethylcytosine [5hmC]) in the orthologs of a significant number of genes implicated in human neurodevelopmental disorders. We tested adult Cntnap2 heterozygous mice (Cntnap2+/−; lacking behavioral or neuropathological abnormalities) subjected to a prenatal stress and found that prenatally stressed Cntnap2+/− female mice show repetitive behaviors and altered sociability, similar to the h

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3

Memis, Idil, Rahul Mittal, Emily Furar, et al. "Altered Blood Brain Barrier Permeability and Oxidative Stress in Cntnap2 Knockout Rat Model." Journal of Clinical Medicine 11, no. 10 (2022): 2725. http://dx.doi.org/10.3390/jcm11102725.

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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by three core symptoms, specifically impaired social behavior, stereotypic/repetitive behaviors, and sensory/communication deficits. Although the exact pathophysiology of ASD is still unknown, host genetics, oxidative stress, and compromised blood brain barrier (BBB) have been implicated in predisposition to ASD. With regards to genetics, mutations in the genes such as CNTNAP2 have been associated with increased susceptibility of developing ASD. Although some studies observed conflicting results suggesting no associa

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4

Al-Murrani, Amel, Fern Ashton, Salim Aftimos, Alice M. George, and 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.

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Thecontactin-associated protein-like 2(CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb deletion within theCNTNAP2gene that is maternally inherited in two male siblings, but with a variable clinical phenotype. This variability is described in the context of a limited number of other cases reported in the literature. The in-frame intragenic deletion removes a critical domain of the CNTNAP2 pr

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5

Fang, Fang, Minxia Ge, Jun Liu, et al. "Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder." Behavioural Neurology 2021 (June 28, 2021): 1–6. http://dx.doi.org/10.1155/2021/4150926.

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Objective. Genetic factors play an important role in the development of autism spectrum disorder (ASD). This case-control study was to determine the association between childhood ASD and single nucleotide polymorphisms (SNPs) rs3746599 in the DUSP15 gene, rs7794745 in the CNTNAP2 gene, and rs251379 in the PCDHA gene in a Chinese Han population. Methods. Genotypes of SNPs were examined in DNA extracted from blood cells from 201 children with ASD and 200 healthy controls. The Children Autism Rating Scale (CARS) was applied to evaluate the severity of the disease and language impairment. The rela

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6

Bartolome, Ruby, Tomoko Kaneko-Tarui, Jill Maron, and 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 (2020): 1022–29. http://dx.doi.org/10.1044/2019_ajslp-csw18-19-0027.

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Purpose Successful oral feeding and speech emergence are dependent upon the coordination of shared oral muscles and facial nerves. We aimed to determine if the speech-associated genes, forkhead box P2 (FOXP2) , contactin-associated protein-like 2 (CNTNAP2 ), glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) , and neurexin 1, were detectable in neonatal saliva and could predict feeding outcomes in premature newborns. Method In this prospective, observational, preliminary study, saliva collected from 51 premature infants (gestational ages: 30–34 6/7 weeks) at different stages of o

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7

Ranieri, Annaluisa, Iolanda Veneruso, Ilaria La Monica, et al. "Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report." Medicina 58, no. 4 (2022): 522. http://dx.doi.org/10.3390/medicina58040522.

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Background and Objectives: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is increasing our knowledge regarding the molecular bases of complex diseases like autism spectrum disorder (ASD). ASD is a group of heterogeneous diseases with multifactorial origins. Genetic factors seem to be involved, albeit they remain still largely unknown. Here, we report the case of a child with a clinical suspicion of ASD investigated by using such a genomic high-resolution approach. Materials and Methods: Bot

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Folia, Vasiliki, Christian Forkstam, Martin Ingvar, and Karl Magnus Petersson. "Implicit Artificial Syntax Processing: Genes, Preference, and Bounded Recursion." Biolinguistics 5, no. 1-2 (2011): 105–32. http://dx.doi.org/10.5964/bioling.8835.

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The first objective of this study was to compare the brain network engaged by preference classification and the standard grammaticality classification after implicit artificial syntax acquisition by re-analyzing previously reported event-related fMRI data. The results show that preference and grammaticality classification engage virtually identical brain networks, including Broca’s region, consistent with previous behavioral findings. Moreover, the results showed that the effects related to artificial syntax in Broca’s region were essentially the same when masked with variability related to na

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9

Mittal, Rea, Ashutosh Kumar, Roger Ladda, Gayatra Mainali, and Ermal Aliu. "Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings." Child Neurology Open 8 (January 2021): 2329048X2110553. http://dx.doi.org/10.1177/2329048x211055330.

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Pitt Hopkins-like syndrome 1 (PTHLS1, OMIM # 610042) is an ultra-rare autosomal recessive condition with a prevalence of <1/1,000,000. Intragenic deletions of CNTNAP2 has been implicated in PTHLS1, however to our knowledge a compound heterozygous deletion of exon 4 and a c.1977_1989del13; p.V660Ffsx9 frameshift variant have not been published previously. In this case report, the proband is a seven year old female with PTHLS1, developmental delay, autism spectrum disorder, focal epilepsy, hypotonia, refractory errors, strabismus, and obstructive sleep apnea. Whole exome sequencing analysis r

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10

Das, Arundhuti, Luca Pagliaroli, Andrea Vereczkei, et al. "Association of GDNF and CNTNAP2 gene variants with gambling." Journal of Behavioral Addictions 8, no. 3 (2019): 471–78. http://dx.doi.org/10.1556/2006.8.2019.40.

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