| 1 | L1CAM
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| TGF-β1-dependent L1CAM expression has an essential role in macrophage-induced apoptosis resistance and cell migration of human intestinal epithelial cells.
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| Schäfer H, Struck B, Feldmann EM, Bergmann F, Grage-Griebenow E, Geismann C, Ehlers S, Altevogt P, Sebens S.
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| Oncogene 32(2):180-9. doi: 10.1038/onc.2012.44. Epub 2012 Feb 20.
2013
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| 2 | HSAS, L1CAM
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| Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum.
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| Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K.
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| Am J Med Genet A 158A(4):812-5. doi: 10.1002/ajmg.a.35245. Epub 2012 Feb 21.
2012
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| 3 | HSAS, L1CAM, MASA
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| Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene.
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| Fernández RM, Núñez-Torres R, García-Díaz L, de Agustín JC, Antiñolo G, Borrego S.
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| Am J Med Genet A 158A(4):816-20. doi: 10.1002/ajmg.a.35244. Epub 2012 Feb 17.
2012
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| 4 | L1CAM, RABGEF1
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| Rabex-5 protein regulates the endocytic trafficking pathway of ubiquitinated neural cell adhesion molecule L1.
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| Aikawa Y.
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| J Biol Chem 287(39):32312-23. Epub 2012 Jul 30. 2012
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| 5 | L1CAM, NOVA2
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| Dual REST-dependence of L1CAM: from gene expression to alternative splicing governed by Nova2 in neural cells.
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| Mikulak J, Negrini S, Klajn A, D'Alessandro R, Mavilio D, Meldolesi J.
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| J Neurochem 120(5):699-709. doi: 10.1111/j.1471-4159.2011.07626.x. Epub 2012 Jan 23.
2012
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| 6 | BACE1, CHL1, L1CAM
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| The neural cell adhesion molecules L1 and CHL1 are cleaved by BACE1 protease in vivo.
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| Zhou L, Barão S, Laga M, Bockstael K, Borgers M, Gijsen H, Annaert W, Moechars D, Mercken M, Gevaert K, De Strooper B.
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| J Biol Chem 287(31):25927-40. doi: 10.1074/jbc.M112.377465. Epub 2012 Jun 12. Erratum in: J Biol Chem. 2012 Sep 28;287(40):33719. Gevaer, Kr 2012
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| 7 | L1CAM
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| L1CAM regulates DNA damage checkpoint response of glioblastoma stem cells through NBS1.
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| Cheng L, Wu Q, Huang Z, Guryanova OA, Huang Q, Shou W, Rich JN, Bao S.
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| EMBO J 30(5):800-13. Epub 2011 Feb 4.
2011
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| 8 | L1CAM
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| Linking L1CAM-mediated signaling to NF-κB activation.
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| Kiefel H, Pfeifer M, Bondong S, Hazin J, Altevogt P.
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| Trends Mol Med. 17(4):178-87 2011
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| 9 | L1CAM, MASA
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| Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
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| Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM.
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| J Med Genet 47(3):169-75. Epub 2009 Oct 20.PMID: 19846429 2010
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| 10 | L1CAM
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| L1CAM-integrin interaction induces constitutive NF-kappaB activation in pancreatic adenocarcinoma cells by enhancing IL-1beta expression.
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| Kiefel H, Bondong S, Erbe-Hoffmann N, Hazin J, Riedle S, Wolf J, Pfeifer M, Arlt A, Schäfer H, Müerköster SS, Altevogt P.
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| Oncogene 29(34):4766-78. Epub 2010 Jun 14.
2010
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| 11 | L1CAM
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| L1CAM ubiquitination facilitates its lysosomal degradation.
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| Schäfer MK, Schmitz B, Diestel S.
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| FEBS Lett 584(21):4475-80. Epub 2010 Oct 14.
2010
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| 12 | L1CAM
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| Positive expression of L1-CAM is associated with perineural invasion and poor outcome in pancreatic ductal adenocarcinoma.
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| Ben QW, Wang JC, Liu J, Zhu Y, Yuan F, Yao WY, Yuan YZ.
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| Ann Surg Oncol. 17(8):2213-21. 2010
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| 13 | L1CAM
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| L1CAM-integrin interaction induces constitutive NF-kappaB activation in pancreatic adenocarcinoma cells by enhancing IL-1beta expression.
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| Kiefel H, Bondong S, Erbe-Hoffmann N, Hazin J, Riedle S, Wolf J, Pfeifer M, Arlt A, Schäfer H, Müerköster SS, Altevogt P.
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| Oncogene. 29(34):4766-78 2010
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| 14 | L1CAM
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| A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
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| Tapanes-Castillo A, Weaver EJ, Smith RP, Kamei Y, Caspary T, Hamilton-Nelson KL, Slifer SH, Martin ER, Bixby JL, Lemmon VP.
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| Neurogenetics. 11(1):53-71. 2010
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| 15 | L1CAM
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| Tyrosine and serine phosphorylation regulate the conformation and subsequent threonine phosphorylation of the L1 cytoplasmic domain.
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| Chen MM, Leland HA, Lee CY, Silletti S.
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| Biochem Biophys Res Commun 389(2):257-64. Epub 2009 Aug 29.PMID: 19720049 2009
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| 16 | L1CAM
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| DNA hypomethylation at the CpG island is involved in aberrant expression of the L1 cell adhesion molecule gene in colorectal cancer.
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| Kato K, Maesawa C, Itabashi T, Fujisawa K, Otsuka K, Kanno S, Tada H, Tatemichi Y, Kotani K, Oikawa H, Sugai T, Wakabayashi G, Masuda T.
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| Int J Oncol 35(3):467-76.PMID: 19639167 2009
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| 17 | L1CAM
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| The adhesion molecule L1 regulates transendothelial migration and trafficking of dendritic cells.
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| Maddaluno L, Verbrugge SE, Martinoli C, Matteoli G, Chiavelli A, Zeng Y, Williams ED, Rescigno M, Cavallaro U.
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| J Exp Med 206(3):623-35. Epub 2009 Mar 9.PMID: 1927362 2009
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| 18 | L1CAM
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| Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.
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| Nagaraj K, Kristiansen LV, Skrzynski A, Castiella C, Garcia-Alonso L, Hortsch M.
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| Hum Mol Genet 18(20):3822-31. Epub 2009 Jul 19.PMID: 19617634 2009
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| 19 | L1CAM
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| L1-CAM as a target for treatment of cancer with monoclonal antibodies.
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| Weidle UH, Eggle D, Klostermann S.
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| Anticancer Res. 29(12):4919-31 2009
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| 20 | L1CAM
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| Stimulation of glioma cell motility by expression, proteolysis, and release of the L1 neural cell recognition molecule.
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| Yang M, Adla S, Temburni MK, Patel VP, Lagow EL, Brady OA, Tian J, Boulos MI, Galileo DS.
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| Cancer Cell Int. 29;9:27. 2009
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| 21 | ACS, HSAS, L1CAM
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| Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review.
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| Nakakimura S, Sasaki F, Okada T, Arisue A, Cho K, Yoshino M, Kanemura Y, Yamasaki M, Todo S.
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| J Pediatr Surg 43(5):E13-7. Review. 2008
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| 22 | ARHGAP4, AVPR2, DIR1, HSAS, L1CAM
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| Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.
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| Knops NB, Bos KK, Kerstjens M, van Dael K, Vos YJ.
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| Am J Med Genet A 146A(14):1853-8. 2008
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| 23 | L1CAM
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| The RGD integrin binding site in human L1-CAM is important for nuclear signaling.
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| Gast D, Riedle S, Kiefel H, Müerköster SS, Schäfer H, Schäfer MK, Altevogt P.
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| Exp Cell Res 314(13):2411-8. Epub 2008 Apr 12.PMID: 1855599 2008
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| 24 | EZR, L1CAM, TAFP2A
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| Characterization of the neuron-specific L1-CAM cytoplasmic tail: naturally disordered in solution it exercises different binding modes for different adaptor proteins.
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| Tyukhtenko S, Deshmukh L, Kumar V, Lary J, Cole J, Lemmon V, Vinogradova O.
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| Biochemistry 47(13):4160-8. Epub 2008 Mar 6.PMID: 18321067 2008
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| 25 | L1CAM
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| Antibodies directed against L1-CAM synergize with Genistein in inhibiting growth and survival pathways in SKOV3ip human ovarian cancer cells.
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| Novak-Hofer I, Cohrs S, Grünberg J, Friedli A, Schlatter MC, Pfeifer M, Altevogt P, Schubiger PA.
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| Cancer Lett. 261(2):193-204. 2008
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| 26 | L1CAM
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| Fibronectin type III (FN3) modules of the neuronal cell adhesion molecule L1 interact directly with the fibroblast growth factor (FGF) receptor.
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| Kulahin N, Li S, Hinsby A, Kiselyov V, Berezin V, Bock E.
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| Mol Cell Neurosci. 37(3):528-36. 2008
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| 27 | L1CAM, NSG1
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| The somatodendritic endosomal regulator NEEP21 facilitates axonal targeting of L1/NgCAM.
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| Yap CC, Wisco D, Kujala P, Lasiecka ZM, Cannon JT, Chang MC, Hirling H, Klumperman J, Winckler B.
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| J Cell Biol 180(4):827-42. doi: 10.1083/jcb.200707143.
2008
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| 28 | DIR1, L1CAM, AVPR2, HSAS
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| Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.
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| Tegay DH, Lane AH, Roohi J, Hatchwell E.
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| Am J Med Genet A 143(6):594-8. 2007
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| 29 | L1CAM
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| Drug-induced expression of the cellular adhesion molecule L1CAM confers anti-apoptotic protection and chemoresistance in pancreatic ductal adenocarcinoma cells.
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| Sebens Müerköster S, Werbing V, Sipos B, Debus MA, Witt M, Grossmann M, Leisner D, Kötteritzsch J, Kappes H, Klöppel G, Altevogt P, Fölsch UR, Schäfer H.
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| Oncogene. 26(19):2759-68. 2007
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| 30 | HSAS, L1CAM
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| Expanding the phenotypic spectrum of L1CAM-associated disease.
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| Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE.
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| Clin Genet 69(5):414-9. 2006
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| 31 | L1CAM
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| RanBPM is an L1-interacting protein that regulates L1-mediated mitogen-activated protein kinase activation.
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| Cheng L, Lemmon S, Lemmon V.
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| J Neurochem. 94(4):1102-10. 2005
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| 32 | L1CAM
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| L1-mediated branching is regulated by two ezrin-radixin-moesin (ERM)-binding sites, the RSLE region and a novel juxtamembrane ERM-binding region.
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| Cheng L, Itoh K, Lemmon V.
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| J Neurosci. 25(2):395-403. 2005
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| 33 | L1CAM, HSAS
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| Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
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| Hubner CA, Utermann B, Tinschert S, Kruger G, Ressler B, Steglich C, Schinzel A, Gal A.
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| Hum Mutat 23(5):526. 2004
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| 34 | L1CAM
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| Heterophilic interactions between cell adhesion molecule L1 and alphavbeta3-integrin induce HUVEC process extension in vitro and angiogenesis in vivo.
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| Hall H, Djonov V, Ehrbar M, Hoechli M, Hubbell JA.
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| Angiogenesis. 7(3):213-23. 2004
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| 35 | DPYSL2, L1CAM
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| CRMP-2 regulates polarized Numb-mediated endocytosis for axon growth.
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| Nishimura T, Fukata Y, Kato K, Yamaguchi T, Matsuura Y, Kamiguchi H, Kaibuchi K.
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| Nature Cell Biol. 5(9):819-26. 2003
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| 36 | L1CAM
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| The mechanism of axon growth: what we have learned from the cell adhesion molecule L1.
|
| Kamiguchi H.
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| Mol Neurobiol. 28(3):219-28. 2003
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| 37 | HSAS, L1CAM
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| Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?
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| Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC, Leppig KA.
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| Am J Med Genet 108(1):51-6. 2002
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| 38 | L1CAM
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| Functional binding interaction identified between the axonal CAM L1 and members of the ERM family.
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| Dickson TC, Mintz CD, Benson DL, Salton SR.
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| J Cell Biol. 157(7):1105-12. 2002
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| 39 | L1CAM
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| Cis and trans interactions of L1 with neuropilin-1 control axonal responses to semaphorin 3A.
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| Castellani V, De Angelis E, Kenwrick S, Rougon G.
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| EMBO J. 21(23):6348-57. 2002
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| 40 | L1CAM
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| Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations.
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| Dobson CB, Villagra F, Clowry GJ, Smith M, Kenwrick S, Donnai D, Miller S, Eyre JA.
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| Brain 124(Pt 12):2393-406. 2001
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| 41 | HSAS, L1CAM
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| Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
|
| Finckh U, Schroder J, Ressler B, Veske A, Gal A.
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| Am J Med Genet 92(1):40-6. 2000
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| 42 | HSAS, L1CAM
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| Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.
|
| Sztriha L, Frossard P, Hofstra RM, Verlind E, Nork M.
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| J Child Neurol 15(4):239-43. 2000
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| 43 | L1CAM
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| Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression.
|
| Moulding HD, Martuza RL, Rabkin SD.
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| J Neurosci 20(15):5696-702. 2000
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| 44 | HSAS, L1CAM
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| Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.
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| Du JS, Bason L, Woffendin H, Zackai E, Kenwrick S.
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| Am J Med Genet 75(2):200-2. 1998
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| 45 | HSAS, L1CAM, MASA
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| Genotype-phenotype correlation in L1 associated diseases.
|
| Fransen E, et al.
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| J Med Genet 35 : 399-404. 1998
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| 46 | L1CAM, HSAS
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| A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
|
| Du YZ, et al.
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| J Med Genet 35 : 456-462. 1998
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| 47 | L1CAM
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| Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
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| Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Henocq A, Heron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frebourg T.
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| Hum Mutat 12 : 259-266. 1998
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| 48 | L1CAM
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| Nervous system defects of AnkyrinB (-/-) mice suggest functional overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB in premyelinated axons.
|
| Scotland P, Zhou D, Benveniste H, Bennett V.
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| J Cell Biol. 143(5):1305-15. 1998
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| 49 | L1CAM, HSAS
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| Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
|
| MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S.
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| Hum Mutat 9(6):512-8. 1997
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| 50 | L1CAM, HSAS
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| Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.
|
| Gu SM, Orth U, Zankl M, Schroder J, Gal A.
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| Am J Med Genet 71(3):336-40. 1997
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| 51 | HSAS, L1CAM
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| A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.
|
| Takechi T, et al.
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| Hum Genet 97 : 353-356. 1996
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| 52 | HSAS, L1CAM
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| Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
|
| Gu SM, et al.
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| J Med Genet 33 : 103-106. 1996
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| 53 | HSAS, L1CAM, MASA, SPG1
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| The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
|
| Fransen E, et al.
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| Am J Med Genet 64 : 73-77. 1996
|
| 54 | L1CAM
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| A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28).
|
| Van Camp G, et al.
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| Hum Mutat 8 : 391. 1996
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| 55 | L1CAM, HSAS
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| A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
|
| Okamoto N, et al.
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| Jpn J Hum Genet 41 : 431-437. 1996
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| 56 | L1CAM
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| Involvement of p90rsk in neurite outgrowth mediated by the cell adhesion molecule L1.
|
| Wong EV, Schaefer AW, Landreth G, Lemmon V.
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| J Biol Chem 271(30):18217-23.PMID: 8663493 1996
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| 57 | L1CAM
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| Involvement of p90rsk in neurite outgrowth mediated by the cell adhesion molecule L1.
|
| Wong EV, Schaefer AW, Landreth G, Lemmon V.
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| J Biol Chem. 271(30):18217-23. 1996
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| 58 | L1CAM
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| Sequencing and analysis of 360 kb of human Xq28 genomic DNA in the region of the L1CAM locus. (abstract).
|
| Platzer M, et al.
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| Cytogenet Cell Genet 71 : 342. 1995
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| 59 | L1CAM, HSAS, MASA
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| New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
|
| Jouet M, et al.
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| Am J Hum Genet 56 : 1304-1314. 1995
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| 60 | MASA, SPG1, HSAS, L1CAM
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| Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
|
| Ruiz JC, et al.
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| J Med Genet 32 : 549-552. 1995
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| 61 | L1CAM, SPG1, HSAS, MASA
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| Mutations in the cell adhesion molecule L1 cause mental retardation.
|
| Wong EV, et al.
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| Trends Neurosci 18 : 168-172. 1995
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| 62 | L1CAM, HSAS
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| Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
|
| Coucke P, et al.
|
| Hum Mol Genet 3 : 671-673. 1994
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| 63 | MASA, L1CAM, HSAS
|
| MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
|
| Vits L, et al.
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| Nat Genet 7 : 408-413. 1994
|
| 64 | MASA, L1CAM, HSAS, SPG1
|
| X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
|
| Jouet M, et al.
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| Nat Genet 7 : 402-407. 1994
|
| 65 | MASA, HSAS, L1CAM
|
| X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
|
| Fransen E, et al.
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| Hum Mol Genet 3 : 2255-2256. 1994
|
| 66 | HSAS, L1CAM
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| A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS).
|
| Jouet M, et al.
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| Nat Genet 4 : 331. 1993
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| 67 | L1CAM
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| X-linked gene MIC5 codes for the L1 adhesion molecule recognized by monoclonal antibody R1.
|
| Patel K, et al.
|
| Cancer Genet Cytogenet 60 : 20-22 1992
|
| 68 | HSAS, L1CAM
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| Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.
|
| Rosenthal A, et al.
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| Nat Genet 2 : 107-112. 1992
|
| 69 | L1CAM
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| Completion of the physical map of Xq28 : the location of the gene for L1CAM on the human X chromosome.
|
| Dietrich A, et al.
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| Mamm Genome 3 : 168-172 1992
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| 70 | L1CAM
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| Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA.
|
| Reid RA, et al.
|
| J Mol Neurosci 3 : 127-135. 1992
|
| 71 | FRAXA, L1CAM, RPL10
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| A strategy for the selection of transcribed sequences in the Xq28 region.
|
| Korn B, et al.
|
| Hum Mol Genet 1 : 235-242. 1992
|
| 72 | L1CAM
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| MspI RFLP in the L1 CAM gene in Xq28.
|
| Willems PJ, et al.
|
| Nucleic Acids Res 19 : 5448. 1991
|
| 73 | L1CAM
|
| Molecular cloning of cell adhesion molecule L1 from human nervous tissue : a comparison of the primary sequences of L1 molecules of different origin.
|
| Kobayashi M, et al.
|
| Biochim Biophys Acta 1090 : 238-240. 1991
|
| 74 | L1CAM
|
| The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X-chromosome in mouse and man.
|
| Djabali M, et al.
|
| Genomics 7 : 587-593. 1990
|
| 75 | L1CAM
|
| Selective cloning of HTF island sequences containing sites for the Not I rare cutter restriction enzyme.
|
| Djabali M, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 991. 1989
|
| 76 | L1CAM
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| The putative X fragile site region in the mouse delineated by in situ hybridization of two genes flanking the human FRAXA.
|
| Mattei MG, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1041-1042. 1989
|
| 77 | L1CAM
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| Localization of MIC5 to the region between HPRT and G6PD on the human X chromosome.
|
| Hope R, Goss S, Solomon E, Ropers HH, Banting G, Goodfellow PN.
|
| Ann Hum Genet 51 : 1-7. 1987
|
| 78 | L1CAM
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| Identification of MIC5 a human X-linked gene controlling expression of a cell surface antigen : definition by a monoclonal antibody raised against a human x mouse somatic cell hybrid.
|
| Hope RM, Goodfellow PN, Solomon E, Bodmer WF.
|
| Cytogenet Cell Genet 33 : 204-212. 1982
|