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Items: 1 to 20 of 198

1.

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. 2009 Nov;85(5):655-66. doi: 10.1016/j.ajhg.2009.10.004. Epub 2009 Nov 5.

2.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.

BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106.

3.

Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.

Forrest M, Chapman RM, Doyle AM, Tinsley CL, Waite A, Blake DJ.

Hum Mutat. 2012 Dec;33(12):1676-86. doi: 10.1002/humu.22160. Epub 2012 Jul 27.

PMID:
22777675
4.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C.

J Med Genet. 2016 Dec;53(12):820-827. doi: 10.1136/jmedgenet-2016-103880. Epub 2016 Jul 20.

PMID:
27439707
5.

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.

Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177.

PMID:
22031302
6.

Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.

Rodenas-Cuadrado P, Pietrafusa N, Francavilla T, La Neve A, Striano P, Vernes SC.

BMC Med Genet. 2016 Feb 3;17:8. doi: 10.1186/s12881-016-0272-8.

7.

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.

Harrison V, Connell L, Hayesmoore J, McParland J, Pike MG, Blair E.

Am J Med Genet A. 2011 Nov;155A(11):2826-31. doi: 10.1002/ajmg.a.34255. Epub 2011 Sep 30.

PMID:
21964664
8.

Investigation of NRXN1 deletions: clinical and molecular characterization.

Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG.

Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12.

PMID:
23495017
9.

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. 2008 Mar;13(3):261-6. Epub 2007 Jul 24. Erratum in: Mol Psychiatry. 2010 Nov;15(11):1121.

PMID:
17646849
10.

Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons.

Varea O, Martin-de-Saavedra MD, Kopeikina KJ, Schürmann B, Fleming HJ, Fawcett-Patel JM, Bach A, Jang S, Peles E, Kim E, Penzes P.

Proc Natl Acad Sci U S A. 2015 May 12;112(19):6176-81. doi: 10.1073/pnas.1423205112. Epub 2015 Apr 27.

11.

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW.

Eur J Hum Genet. 2012 Dec;20(12):1240-7. doi: 10.1038/ejhg.2012.95. Epub 2012 May 23.

12.

TCF4, schizophrenia, and Pitt-Hopkins Syndrome.

Blake DJ, Forrest M, Chapman RM, Tinsley CL, O'Donovan MC, Owen MJ.

Schizophr Bull. 2010 May;36(3):443-7. doi: 10.1093/schbul/sbq035. Epub 2010 Apr 26.

13.

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.

Duong L, Klitten LL, Møller RS, Ingason A, Jakobsen KD, Skjødt C, Didriksen M, Hjalgrim H, Werge T, Tommerup N.

Am J Med Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):354-8. doi: 10.1002/ajmg.b.32036. Epub 2012 Feb 15.

PMID:
22337556
14.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Review.

PMID:
23533028
15.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA.

Hum Genet. 2011 Oct;130(4):563-73. doi: 10.1007/s00439-011-0975-z. Epub 2011 Mar 22.

16.

Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.

Pak C, Danko T, Zhang Y, Aoto J, Anderson G, Maxeiner S, Yi F, Wernig M, Südhof TC.

Cell Stem Cell. 2015 Sep 3;17(3):316-28. doi: 10.1016/j.stem.2015.07.017. Epub 2015 Aug 13.

17.

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.

Camacho-Garcia RJ, Planelles MI, Margalef M, Pecero ML, Martínez-Leal R, Aguilera F, Vilella E, Martinez-Mir A, Scholl FG.

Neurobiol Dis. 2012 Jul;47(1):135-43. doi: 10.1016/j.nbd.2012.03.031. Epub 2012 Apr 3.

PMID:
22504536
18.

Mutation analysis of the NRXN1 gene in a Chinese autism cohort.

Liu Y, Hu Z, Xun G, Peng Y, Lu L, Xu X, Xiong Z, Xia L, Liu D, Li W, Zhao J, Xia K.

J Psychiatr Res. 2012 May;46(5):630-4. doi: 10.1016/j.jpsychires.2011.10.015. Epub 2012 Mar 9.

PMID:
22405623
19.

A Drosophila neurexin is required for septate junction and blood-nerve barrier formation and function.

Baumgartner S, Littleton JT, Broadie K, Bhat MA, Harbecke R, Lengyel JA, Chiquet-Ehrismann R, Prokop A, Bellen HJ.

Cell. 1996 Dec 13;87(6):1059-68.

20.

The neuronal protein Neurexin directly interacts with the Scribble-Pix complex to stimulate F-actin assembly for synaptic vesicle clustering.

Rui M, Qian J, Liu L, Cai Y, Lv H, Han J, Jia Z, Xie W.

J Biol Chem. 2017 Sep 1;292(35):14334-14348. doi: 10.1074/jbc.M117.794040. Epub 2017 Jul 14.

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