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Displaying 18 of 18 results for "CNTNAP2"
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  1. Methylation profiling of the human CNTNAP2 gene in brain using high-resolution tiling arrays. BioProject

    ID: PRJNA230520

    Keywords: Epigenomics

    Access Type: download

  2. Methylation profiling of the chimpanzee CNTNAP2 gene in brain using high-resolution tiling arrays. BioProject

    ID: PRJNA230522

    Keywords: Epigenomics

    Access Type: download

  3. Methylation profiling of the human CNTNAP2 gene in brain using high-resolution tiling arrays ArrayExpress

    ID: E-GEOD-52948

    Description: isition are influenced by FOXP2, key regulator of CNTNAP2. CNTNAP2 is one of the largest genes in the human genome, encompassing 2.3 Mb. It encodes a neurexin with essential roles in the vertebrate nervous system. The aim of our study was to compare the methylation patterns of CNTNAP2 in human and chimpanzee brains, assuming that epigenetic regulation is essential for brain development and human language abilities. To this end, we designed a NimbleGen tiling array covering ...

  4. Methylation profiling of the chimpanzee CNTNAP2 gene in brain using high-resolution tiling arrays ArrayExpress

    ID: E-GEOD-52949

    Description: isition are influenced by FOXP2, key regulator of CNTNAP2. CNTNAP2 is one of the largest genes in the chimpanzee genome, encompassing 2.5 Mb. It encodes a neurexin with essential roles in the vertebrate nervous system. The aim of our study was to compare the methylation patterns of CNTNAP2 in human and chimpanzee brains, assuming that epigenetic regulation is essential for brain development and human language abilities. To this end, we designed a NimbleGen tiling array cove...

  5. Methylation profiling of the chimpanzee CNTNAP2 gene in brain using high-resolution tiling arrays. OmicsDI

    ID: E-GEOD-52949

    Date Released: 06-03-2014

    Description: isition are influenced by FOXP2, key regulator of CNTNAP2. CNTNAP2 is one of the largest genes in the chimpanzee genome, encompassing 2.5 Mb. It encodes a neurexin with essential roles in the vertebrate nervous system. The aim of our study was to compare the methylation patterns of CNTNAP2 in human and chimpanzee brains, assuming that epigenetic regulation is essential for brain development and human language abilities. To this end, we designed a NimbleGen tiling array cove...

  6. Methylation profiling of the human CNTNAP2 gene in brain using high-resolution tiling arrays. OmicsDI

    ID: E-GEOD-52948

    Date Released: 06-03-2014

    Description: isition are influenced by FOXP2, key regulator of CNTNAP2. CNTNAP2 is one of the largest genes in the human genome, encompassing 2.3 Mb. It encodes a neurexin with essential roles in the vertebrate nervous system. The aim of our study was to compare the methylation patterns of CNTNAP2 in human and chimpanzee brains, assuming that epigenetic regulation is essential for brain development and human language abilities. To this end, we designed a NimbleGen tiling array covering ...

  7. Transcription profiling of human perisylvian cerebral cortical patterning ArrayExpress

    ID: E-GEOD-9335

    Description: ntal cortex. Contactin Associated Protein-Like 2 (CNTNAP2), in which mutations are known to cause autism, epilepsy and language delay, showed a remarkable pattern of anterior enriched expression in cortical regions important for human higher cognition. Importantly, a similar pattern was not observed in the mouse or rat. These data highlight the importance of expression analysis of human brain and the utility of cross-species comparisons of gene expression. Genes identified here provide a foundation for understanding molecular aspects of human-cognitive specializations and disorders that disrupt them. Experiment Overall Design: Fresh frozen human mid-gestation brains were obtained from the NICHD Brain and Tissue Bank for Developmental Disorders (University of Maryland, Baltimore, MD). After separation of the two hemispheres, tissue from STG was extracted. RNA from STG and remaining CTX was hybridized on both Agilent G4110A arrays (n=8) and Affymetrix HGU133A arrays (n=17)....

  8. Genome-wide analyses of human perisylvian cerebral cortical patterning BioProject

    ID: PRJNA103015

    Keywords: Transcriptome or Gene expression

    Access Type: download

    dataset.description: ntal cortex. Contactin Associated Protein-Like 2 (CNTNAP2), in which mutations are known to cause autism, epilepsy and language delay, showed a remarkable pattern of anterior enriched expression in cortical regions important for human higher cognition. Importantly, a similar pattern was not observed in the mouse or rat. These data highlight the importance of expression analysis of human brain and the utility of cross-species comparisons of gene expression. Genes identified here provide a foundation for understanding molecular aspects of human-cognitive specializations and disorders that disrupt them. Keywords: Regional contrast Overall design: Fresh frozen human mid-gestation brains were obtained from the NICHD Brain and Tissue Bank for Developmental Disorders (University of Maryland, Baltimore, MD). After separation of the two hemispheres, tissue from STG was extracted. RNA from STG and remaining CTX was hybridized on both Agilent G4110A arrays (n=8) and Affymetrix HGU133A arrays (n=17)....
  9. Mouse models of 17q21.31 Koolen-De Vries syndrome highlight the importance of Kansl1 for cognition, synaptic transmission and neurogenesis BioProject

    ID: PRJNA318530

    Keywords: Epigenomics

    Access Type: download

    dataset.description: are mutated in autism spectrum disorders (Grid1, Cntnap2, Nrxn1, Nrxn3, Adcyap1 and Ucn) were upregulated in the hippocampus of both Del/+ and Kansl1+/- mouse models. Together, these novel mouse models provide new genetic tools for better understanding of the pathophysiology of KdVS, and will be valuable for the development of therapeutic approaches. Overall design: anti-H3k4me3 ChIP-seq; 12 samples. 3 Kansl1 +/- , 3 Del/+, 6 wts...
  10. CNTP2_PONAB UniProt:Swiss-Prot

    ID: Q5RD64

    Description: Contactin-associated protein-like 2 Extracellular Helical Cytoplasmic F5/8 type C Laminin G-like 1 Laminin G-like 2 EGF-like 1 Fibrinogen C-terminal L...

    gene.name: CNTNAP2
  11. Genome-wide analyses of human perisylvian cerebral cortical patterning - GPL96 GEMMA

    ID: 1606

    Keywords: functional genomics

    Description: ntal cortex. Contactin Associated Protein-Like 2 (CNTNAP2), in which mutations are known to cause autism, epilepsy and language delay, showed a remarkable pattern of anterior enriched expression in cortical regions important for human higher cognition. Importantly, a similar pattern was not observed in the mouse or rat. These data highlight the importance of expression analysis of human brain and the utility of cross-species comparisons of gene expression. Genes identified here provide a foundation for understanding molecular aspects of human-cognitive specializations and disorders that disrupt them. Last Updated (by provider): Contributers: Dima Tentler* Michael C Oldham Julie V Perederiy* Giovanni Coppola Daniel H Geschwind Brett S Abrahams...

  12. Genome-wide analyses of human perisylvian cerebral cortical patterning - GPL885 GEMMA

    ID: 1607

    Keywords: functional genomics

    Description: ntal cortex. Contactin Associated Protein-Like 2 (CNTNAP2), in which mutations are known to cause autism, epilepsy and language delay, showed a remarkable pattern of anterior enriched expression in cortical regions important for human higher cognition. Importantly, a similar pattern was not observed in the mouse or rat. These data highlight the importance of expression analysis of human brain and the utility of cross-species comparisons of gene expression. Genes identified here provide a foundation for understanding molecular aspects of human-cognitive specializations and disorders that disrupt them. Last Updated (by provider): Contributers: Dima Tentler* Michael C Oldham Julie V Perederiy* Giovanni Coppola Daniel H Geschwind Brett S Abrahams...

  13. First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for Body Mass Index and Type 2 ... OmicsDI

    ID: EGAS00001001004

    Date Released:

    Description: as reported elsewhere. BMI also associated with CNTNAP2 (rs6960319 Pgenotyped=4.65x10-5; rs13225016 Pimputed_1000G=6.57x10-5), previously identified as the strongest gene-by-environment interaction for BMI in African-Americans. The top hit (rs11240074 Pgenotyped=5.59x10-6, Pimputed_1000G=5.73x10-6) for T2D lies 5’ of BCL9 that, along with TCFL2, promotes beta-catenin’s transcriptional activity in the WNT signaling pathway. Additional hits occurred in genes affecting pancreatic (KCNJ6, KCNA1) and/or GABA (GABRR1, KCNA1) functions. Notable associations observed for genes previously identified at genome-wide significance in other populations included MC4R (Pgenotyped=4.49x10-4) for BMI and IGF2BP2 Pimputed_1000G=2.55x10-6) for T2D. Our results may provide novel functional leads in understanding disease pathogenesis in this Australian Aboriginal population....

  14. Transcription profiling of human perisylvian cerebral cortical patterning OmicsDI

    ID: E-GEOD-9335

    Date Released: 05-02-2014

    Description: ntal cortex. Contactin Associated Protein-Like 2 (CNTNAP2), in which mutations are known to cause autism, epilepsy and language delay, showed a remarkable pattern of anterior enriched expression in cortical regions important for human higher cognition. Importantly, a similar pattern was not observed in the mouse or rat. These data highlight the importance of expression analysis of human brain and the utility of cross-species comparisons of gene expression. Genes identified here provide a foundation for understanding molecular aspects of human-cognitive specializations and disorders that disrupt them. Experiment Overall Design: Fresh frozen human mid-gestation brains were obtained from the NICHD Brain and Tissue Bank for Developmental Disorders (University of Maryland, Baltimore, MD). After separation of the two hemispheres, tissue from STG was extracted. RNA from STG and remaining CTX was hybridized on both Agilent G4110A arrays (n=8) and Affymetrix HGU133A arrays (n=17)....

  15. Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins... NIMH

    ID: doi:10.15154/1176904

    Release Date: 01-30-2017

  16. Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins #370... Ndar Papers

    ID: 370

    Description: roteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes based on findings from homozygosity mapping, molecular cytogenetics, copy number variation analyses,...

    Types: Observational Study

  17. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations #323 Ndar Papers

    ID: 323

    Description: tation carrier, we also observed a rare inherited CNTNAP2 missense variant, and we provide functional support for a multi-hit model for disease risk. Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs....

    Types: Observational Study

  18. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations NIMH

    ID: doi:10.15154/1163549

    Release Date: 01-30-2017

    attributes.description: tation carrier, we also observed a rare inherited CNTNAP2 missense variant, and we provide functional support for a multi-hit model for disease risk. Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs....

Displaying 18 of 18 results for "CNTNAP2"