• Thumbnail for CNTNAP2
    Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene. This gene encodes a member of the neurexin family which functions...
    11 KB (1,355 words) - 23:40, 23 October 2024
  • Thumbnail for Heritability of autism
    (January 2008). "Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene". American Journal of Human Genetics....
    114 KB (10,913 words) - 08:01, 25 October 2024
  • Thumbnail for Pitt–Hopkins syndrome
    autosomal recessive mutations of the contactin associated protein like 2 (CNTNAP2) gene on the long arm of chromosome 7 (7q33-q36) and the neurexin 1 alpha...
    18 KB (1,866 words) - 16:05, 3 November 2024
  • Thumbnail for FOXP2
    known to regulate CNTNAP2, CTBP1, SRPX2 and SCN3A. FOXP2 downregulates CNTNAP2, a member of the neurexin family found in neurons. CNTNAP2 is associated with...
    53 KB (5,881 words) - 01:04, 30 September 2024
  • Thumbnail for Verbal intelligence
    been shown to cause major issues to overall linguistic intelligence. The CNTNAP2 gene is believed to affect language development and performance, and mutations...
    18 KB (2,051 words) - 19:15, 11 November 2024
  • Thumbnail for Tourette syndrome
    only a small number of cases in single families (the SLITRK1, HDC, and CNTNAP2 genes). Psychosocial or other non-genetic factors—while not causing Tourette's—can...
    136 KB (14,896 words) - 00:38, 12 November 2024
  • Thumbnail for Laminin
    receptors (CELSR1, CELSR2, CELSR3), contactin-associated proteins (CNTNAP1, CNTNAP2, CNTNAP3, CNTNAP3B, CNTNAP4, CNTNAP5), some collagens (COL5A1, COL5A3,...
    31 KB (3,371 words) - 22:42, 11 October 2024
  • and the heterozygous mice have a lowered seizure threshold. Mutations of CNTNAP2 (the gene encoding CASPR2) have been reported to be associated with intellectual...
    14 KB (1,570 words) - 11:17, 29 December 2023
  • and subsequent functional characterization of the autism-related gene CNTNAP2 at UCLA. Abrahams is an assistant professor at the Albert Einstein College...
    8 KB (1,138 words) - 02:20, 13 January 2024
  • O94779 3314 CNTN6 HGNC:2176 Q9UQ52 3315 CNTNAP1 HGNC:8011 P78357 3316 CNTNAP2 HGNC:13830 Q9UHC6 3317 CNTNAP3 HGNC:13834 Q9BZ76 3318 CNTNAP3B HGNC:32035...
    277 KB (17 words) - 18:34, 6 October 2024
  • based on abnormalities in this and other neuropeptides. A mutation in the Cntnap2 gene, which has been linked to ASD in human, results in decreased oxytocin...
    28 KB (3,403 words) - 21:31, 19 September 2024
  • conducted in 2013 and 2015 discovered disease-associated SNPs near SORL1, CNTNAP2, SUDS3, FAM47E, and SCARB2. GWAS from Chinese cohorts identified SNPs in...
    88 KB (9,045 words) - 19:13, 21 August 2024
  • can be several hundred thousands bases long), for example genes RBFOX1, CNTNAP2, PTPRD and DLG2. Senapathy provided a plausible answer to these questions...
    69 KB (8,036 words) - 08:02, 28 October 2024
  • Thumbnail for Discoidin domain
    the second FA58C domain in MFGM Q08431. AEBP1; BTBD9; CASPR4; CNTNAP1; CNTNAP2; CNTNAP3; CNTNAP4; CNTNAP5; CPXM1; CPXM2; DCBLD1; DCBLD2; DDR1; DDR2; EDIL3;...
    6 KB (723 words) - 07:51, 27 August 2021
  • only a small number of cases in single families (the SLITRK1, HDC, and CNTNAP2 genes). In some cases, tics may not be inherited; these cases are identified...
    20 KB (2,352 words) - 23:41, 31 December 2023
  • frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2." The study used a combination of genetics and imaging phenotypes to determine...
    11 KB (1,193 words) - 18:53, 24 October 2023
  • Thumbnail for Chromosomal fragile site
    FRA6F FRA6G FRA6H FRA7A FRA7B FRA7C FRA7D FRA7E FRA7F FRA7G FRA7H FRA7I (CNTNAP2 gene) FRA7J FRA7K (IMMP2L gene) FRA8A FRA8B FRA8C FRA8D FRA8E FRA8F FRA9A...
    21 KB (2,523 words) - 14:37, 6 September 2024
  • in human and mouse models. Vernes also showed the relationship between CNTNAP2 and FOXP2, indicating that the pair can cause various language-related...
    6 KB (680 words) - 13:24, 27 September 2023
  • Thumbnail for Contactin 2
    target for therapeutic intervention. CNTN2 has been shown to interact with CNTNAP2 and NFYB. GRCh38: Ensembl release 89: ENSG00000184144 – Ensembl, May 2017...
    9 KB (1,155 words) - 06:22, 22 December 2023
  • Thumbnail for EGF-like domain
    BTC; C1S; CASPR4; CD248; CD93; CELSR1; CELSR2; CELSR3; CLEC14A; CNTNAP1; CNTNAP2; CNTNAP3; CNTNAP4; CNTNAP5; COMP; COX-2; CRB1; CRB2; CSPG3; CUBN; DLK1;...
    25 KB (3,071 words) - 16:22, 5 September 2024
  • Hua; Ju, Kang; Wen, Zujia; Fu, Yingchun; An, Zhiguo; Zhao, Qian (2013). "CNTNAP2 is significantly associated with schizophrenia and major depression in...
    10 KB (750 words) - 13:57, 14 April 2024
  • of; 304100; L1CAM Cortical dysplasia-focal epilepsy syndrome; 610042; CNTNAP2 Corticosteroid-binding globulin deficiency; 611489; CBG Cortisone reductase...
    234 KB (18,877 words) - 06:16, 6 November 2024
  • Thumbnail for Neurogenomics
    the gene CNTNAP2 is specifically enriched for in the prefrontal cortex. The mouse homolog of CNTNAP2 is not expressed in the mouse brain. CNTNAP2 has been...
    80 KB (9,520 words) - 22:29, 11 July 2024
  • Thumbnail for Periannan Senapathy
    can be several hundred thousands bases long), for example genes RBFOX1, CNTNAP2, PTPRD and DLG2. Senapathy has provided a plausible answer to these questions...
    34 KB (4,063 words) - 17:57, 25 July 2024