Citations for
1CNTN1, CNTNAP2
Structural Characterization of the Extracellular Domain of CASPR2 and Insights into Its Association with the Novel Ligand Contactin1.
Rubio-Marrero EN, Vincelli G, Jeffries CM, Shaikh TR, Pakos IS, Ranaivoson FM, von Daake S, Demeler B, De Jaco A, Perkins G, Ellisman MH, Trewhella J, Comoletti D.
J Biol Chem 291(11):5788-802. doi: 10.1074/jbc.M115.705681. 2016
2CNTNAP2
Widespread differences in cortex DNA methylation of the "language gene" CNTNAP2 between humans and chimpanzees.
Schneider E, El Hajj N, Richter S, Roche-Santiago J, Nanda I, Schempp W, Riederer P, Navarro B, Bontrop RE, Kondova I, Scholz CJ, Haaf T.
Epigenetics 9(4):533-45. doi: 10.4161/epi.27689. Epub 2014 Jan 16. 2014
3CNTNAP1, CNTNAP2
Caspr and caspr2 are required for both radial and longitudinal organization of myelinated axons.
Gordon A, Adamsky K, Vainshtein A, Frechter S, Dupree JL, Rosenbluth J, Peles E.
J Neurosci 34(45):14820-6. doi: 10.1523/JNEUROSCI.3369-14.2014. 2014
4CNTNAP2
CNTNAP2 polymorphisms and structural brain connectivity: a diffusion-tensor imaging study.
Clemm von Hohenberg C, Wigand MC, Kubicki M, Leicht G, Giegling I, Karch S, Hartmann AM, Konte B, Friedl M, Ballinger T, Eckbo R, Bouix S, Jńger L, Shenton ME, Rujescu D, Mulert C.
J Psychiatr Res 47(10):1349-56. doi: 10.1016/j.jpsychires.2013.07.002. Epub 2013 Jul 17. 2013
5CNTN2, CNTNAP2
The juxtaparanodal proteins CNTNAP2 and TAG1 regulate diet-induced obesity.
Buchner DA, Geisinger JM, Glazebrook PA, Morgan MG, Spiezio SH, Kaiyala KJ, Schwartz MW, Sakurai T, Furley AJ, Kunze DL, Croniger CM, Nadeau JH.
Mamm Genome 23(7-8):431-42. doi: 10.1007/s00335-012-9400-8. Epub 2012 Jul 1. 2012
6CNTNAP2
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development.
Anderson GR, Galfin T, Xu W, Aoto J, Malenka RC, SŘdhof TC.
Proc Natl Acad Sci U S A 109(44):18120-5. doi: 10.1073/pnas.1216398109. Epub 2012 Oct 16. 2012
7CDFE, CNTNAP2, PTHS3
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.
Falivelli G, De Jaco A, Favaloro FL, Kim H, Wilson J, Dubi N, Ellisman MH, Abrahams BS, Taylor P, Comoletti D.
Hum Mol Genet 21(21):4761-73. doi: 10.1093/hmg/dds320. Epub 2012 Aug 7. 2012
8CNTNAP2
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.
Pe˝agarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, Sonnenblick LI, Gruver R, Almajano J, Bragin A, Golshani P, Trachtenberg JT, Peles E, Geschwind DH.
Cell 147(1):235-46. 2011
9CNTNAP2
Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.
Whalley HC, O'Connell G, Sussmann JE, Peel A, Stanfield AC, Hayiou-Thomas ME, Johnstone EC, Lawrie SM, McIntosh AM, Hall J.
Am J Med Genet B Neuropsychiatr Genet 156B(8):941-8. doi: 10.1002/ajmg.b.31241. Epub 2011 Oct 10. 2011
10CNTNAP2
The CASPR2 cell adhesion molecule functions as a tumor suppressor gene in glioma.
Bralten LB, Gravendeel AM, Kloosterhof NK, Sacchetti A, Vrijenhoek T, Veltman JA, van den Bent MJ, Kros JM, Hoogenraad CC, Sillevis Smitt PA, French PJ.
Oncogene 29(46):6138-48. Epub 2010 Aug 16. 2010
11CNTN2, CNTNAP2, CYFIP1
Contact in the genetics of autism and schizophrenia.
Burbach JP, van der Zwaag B.
Trends Neurosci 32(2):69-72. Epub 2009 Jan 8. 2009
12CNTNAP2, CPE
Contactin-associated protein (Caspr) 2 interacts with carboxypeptidase E in the CNS.
Oiso S, Takeda Y, Futagawa T, Miura T, Kuchiiwa S, Nishida K, Ikeda R, Kariyazono H, Watanabe K, Yamada K.
J Neurochem 109(1):158-67. Epub 2009 Jan 23. 2009
13CNTNAP2, NRXN1, PTHS2, PTHS3
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A.
Am J Hum Genet 85(5):655-66. Epub 2009 Nov 5.PMID: 19896112 2009
14CDFE, CNTNAP2, AUTS1
Unraveling autism.
Stephan DA.
Am J Hum Genet 82(1):7-9. 2008
15AUTS1, AUTS15, CNTNAP2
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene.
Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH.
Am J Hum Genet 82(1):150-159. 2008
16CNTNAP2, AUTS1
A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism.
Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH Jr, Chakravarti A.
Am J Hum Genet 82(1):160-4. 2008
17ASDT1, AUTS1, CNTN4, CNTNAP2
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW.
Am J Hum Genet 82(1):165-73. 2008
18CNTNAP2, CYFIP1, DEL15Q11, DEL15Q13, DEL1Q21D, SCZD10
Large recurrent microdeletions associated with schizophrenia.
Stefansson H, Rujescu D, Cichon S, Pietil├Ąinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, M├Âller HJ, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, M├╝hleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, N├Âthen MM, Peltonen L, Collier DA, St Clair D, Stefansson K, Kahn RS, Linszen DH, van Os J, Wiersma D, Bruggeman R, Cahn W, de Haan L, Krabbendam L, Myin-Germeys I; Genetic Risk and Outcome in Psychosis (GROUP).
Nature 455(7210):232-6. 2008
19AUTS1, CNTNAP2
Autism: many genes, common pathways?
Geschwind DH.
Cell 135(3):391-5. 2008
20CNTNAP2, FOXP2, SPCH1, SPCHSL
A Functional Genetic Link between Distinct Developmental Language Disorders.
Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcˇn M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE.
N Engl J Med Engl J Med. 2008 Nov 5. [Epub ahead of print] 2008
21CNTNAP2, DEL7QO, NOBOX
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.
Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O.
Eur J Med Genet 51(6):631-8. Epub 2008 Jul 16. 2008
22CNTNAP2
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet WA, Faas BH, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, van Kessel AG, Wijmenga C, Ophoff RA, Veltman JA.
Mol Psychiatry 13(3):261-6. Epub 2007 Jul 24. 2008
23CNTNAP2
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.
Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers HH, Tommerup N, Tumer Z.
Eur J Hum Genet 15(6):711-3. Epub 2007 Mar 28. 2007
24CDFE, CNTNAP2, ASDT1
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH.
N Engl J Med 354(13):1370-7. 2006
25CNTNAP2, GTLS18, GTS13
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder.
Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA; Tourette Syndrome Association International Consortium for Genetics.
Genomics 82(1):1-9. 2003
26CNTNAP1, CNTNAP2, EPB41, EPB41L3
Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres.
Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, Ohara O, Carnaud M, Girault JA.
Eur J Neurosci 17(2):411-6. 2003
27CNTNAP2
The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35.
Nakabayashi K, Scherer SW.
Genomics 73(1):108-12. 2001