| 1 | CFNS, EFNB1
|
| Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.
|
| Shotelersuk V, Kamolvisit W, Rojvachiranonda N, Suphapeetiporn K, Porntaveetus T, Shotelersuk V.
|
| Eur J Med Genet ur J Med Genet. 2020 Mar 30:103924. doi: 10.1016/j.ejmg.2020.103924. [Epub ahead of print]
2020
|
| 2 | CFNS, EFNB1
|
| Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum.
|
| Jiang Y, Qian YQ, Yang MM, Zhan QT, Chen Y, Xi FF, Sagnelli M, Dong MY, Zhao BH, Luo Q.
|
| Front Genet 10:1201. doi: 10.3389/fgene.2019.01201. eCollection 2019.
2019
|
| 3 | EFNB1
|
| Loss of EfnB1 in the osteogenic lineage compromises their capacity to support hematopoietic stem/progenitor cell maintenance.
|
| Arthur A, Nguyen TM, Paton S, Zannettino ACW, Gronthos S.
|
| Exp Hematol 69:43-53. doi: 10.1016/j.exphem.2018.10.004. Epub 2018 Oct 13.
2019
|
| 4 | EFNB1
|
| The osteoprogenitor-specific loss of ephrinB1 results in an osteoporotic phenotype affecting the balance between bone formation and resorption.
|
| Arthur A, Nguyen TM, Paton S, Klisuric A, Zannettino ACW, Gronthos S.
|
| Sci Rep 8(1):12756. doi: 10.1038/s41598-018-31190-2.
2018
|
| 5 | EFNB1, NRP1
|
| Developmental Upregulation of Ephrin-B1 Silences Sema3C/Neuropilin-1 Signaling during Post-crossing Navigation of Corpus Callosum Axons.
|
| Mire E, Hocine M, Bazellières E, Jungas T, Davy A, Chauvet S, Mann F.
|
| Curr Biol 28(11):1768-1782.e4. doi: 10.1016/j.cub.2018.04.026. Epub 2018 May 17.
2018
|
| 6 | EFNB1
|
| Ephrin B1-mediated repulsion and signaling control germinal center T cell territoriality and function.
|
| Lu P, Shih C, Qi H.
|
| Science 356(6339). pii: eaai9264. doi: 10.1126/science.aai9264. Epub 2017 Apr 13.
2017
|
| 7 | EFNB1
|
| EphrinB1/EphB3b Coordinate Bidirectional Epithelial-Mesenchymal Interactions Controlling Liver Morphogenesis and Laterality.
|
| Cayuso J, Dzementsei A, Fischer JC, Karemore G, Caviglia S, Bartholdson J, Wright GJ, Ober EA.
|
| Dev Cell 39(3):316-328. doi: 10.1016/j.devcel.2016.10.009.
2016
|
| 8 | EFNB1
|
| Loss of ephrinB1 in osteogenic progenitor cells impedes endochondral ossification and compromises bone strength integrity during skeletal development.
|
| Nguyen TM, Arthur A, Paton S, Hemming S, Panagopoulos R, Codrington J, Walkley CR, Zannettino AC, Gronthos S.
|
| Bone 93:12-21. doi: 10.1016/j.bone.2016.09.009. Epub 2016 Sep 10.
2016
|
| 9 | EFNB1, STAT3
|
| Astrocytic Ephrin-B1 Regulates Synapse Remodeling Following Traumatic Brain Injury.
|
| Nikolakopoulou AM, Koeppen J, Garcia M, Leish J, Obenaus A, Ethell IM.
|
| ASN Neuro 8(1):1-18. doi: 10.1177/1759091416630220. Print 2016 Jan-Feb.
2016
|
| 10 | EFNB1
|
| EphrinB1: novel microtubule associated protein whose expression affects taxane sensitivity.
|
| Colbert PL, Vermeer DW, Wieking BG, Lee JH, Vermeer PD.
|
| Oncotarget 6(2):953-68.
2015
|
| 11 | EFNB1
|
| EphrinB1 expression is dysregulated and promotes oncogenic signaling in medulloblastoma.
|
| McKinney N, Yuan L, Zhang H, Liu J, Cho YJ, Rushing E, Schniederjan M, MacDonald TJ.
|
| J Neurooncol 121(1):109-18. doi: 10.1007/s11060-014-1618-8. Epub 2014 Sep 26.
2015
|
| 12 | CNKSR1, EFNB1
|
| EphrinB1 interacts with CNK1 and promotes cell migration through c-Jun N-terminal kinase (JNK) activation.
|
| Cho HJ, Hwang YS, Mood K, Ji YJ, Lim J, Morrison DK, Daar IO.
|
| J Biol Chem 289(26):18556-68. doi: 10.1074/jbc.M114.558809. Epub 2014 May 13.
2014
|
| 13 | EFNB1
|
| A novel role for adipose ephrin-B1 in inflammatory response.
|
| Mori T, Maeda N, Inoue K, Sekimoto R, Tsushima Y, Matsuda K, Yamaoka M, Suganami T, Nishizawa H, Ogawa Y, Funahashi T, Shimomura I.
|
| PLoS One 8(10):e76199. doi: 10.1371/journal.pone.0076199. eCollection 2013.
2013
|
| 14 | EFNB1
|
| Ephrin-B1 controls the columnar distribution of cortical pyramidal neurons by restricting their tangential migration.
|
| Dimidschstein J, Passante L, Dufour A, van den Ameele J, Tiberi L, Hrechdakian T, Adams R, Klein R, Lie DC, Jossin Y, Vanderhaeghen P.
|
| Neuron 79(6):1123-35. doi: 10.1016/j.neuron.2013.07.015.
2013
|
| 15 | EFNB1, SMURF1, SMURF2
|
| The Smurf ubiquitin ligases regulate tissue separation via antagonistic interactions with ephrinB1.
|
| Hwang YS, Lee HS, Kamata T, Mood K, Cho HJ, Winterbottom E, Ji YJ, Singh A, Daar IO.
|
| Genes Dev 27(5):491-503. doi: 10.1101/gad.208355.112.
2013
|
| 16 | EFNB1
|
| Targeted disruption of ephrin B1 in cells of myeloid lineage increases osteoclast differentiation and bone resorption in mice.
|
| Cheng S, Zhao SL, Nelson B, Kesavan C, Qin X, Wergedal J, Mohan S, Xing W.
|
| PLoS One 7(3):e32887. doi: 10.1371/journal.pone.0032887. Epub 2012 Mar 5.
2012
|
| 17 | EFNB1
|
| Ephrin-B1 is a novel specific component of the lateral membrane of the cardiomyocyte and is essential for the stability of cardiac tissue architecture cohesion.
|
| Genet G, Guilbeau-Frugier C, Honton B, Dague E, Schneider MD, Coatrieux C, Calise D, Cardin C, Nieto C, Payré B, Dubroca C, Marck P, Heymes C, Dubrac A, Arvanitis D, Despas F, Altié MF, Seguelas MH, Delisle MB, Davy A, Sénard JM, Pathak A, Galés C.
|
| Circ Res 110(5):688-700. doi: 10.1161/CIRCRESAHA.111.262451. Epub 2012 Feb 2.
2012
|
| 18 | EFNB1, EFNB2, EFNB3, RELN
|
| Ephrin Bs are essential components of the Reelin pathway to regulate neuronal migration.
|
| Sentürk A, Pfennig S, Weiss A, Burk K, Acker-Palmer A.
|
| Nature. 472(7343):356-60. 2011
|
| 19 | CFNS, EFNB1
|
| Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
|
| Babbs C, Stewart HS, Williams LJ, Connell L, Goriely A, Twigg SR, Smith K, Lester T, Wilkie AO.
|
| Hum Mutat 32(8):930-8. doi: 10.1002/humu.21521. Epub 2011 Jul 12.
2011
|
| 20 | EFNB1, EFNB2, IL7, IL7R
|
| Ephrinb1 and Ephrinb2 are associated with interleukin-7 receptor α and retard its internalization from the cell surface.
|
| Luo H, Wu Z, Qi S, Jin W, Han B, Wu J.
|
| J Biol Chem 286(52):44976-87. doi: 10.1074/jbc.M111.316414. Epub 2011 Nov 8.
2011
|
| 21 | EFNB1
|
| The effect of conditional EFNB1 deletion in the T cell compartment on T cell development and function.
|
| Jin W, Qi S, Luo H.
|
| BMC Immunol 12:68. doi: 10.1186/1471-2172-12-68.
2011
|
| 22 | EFNB1, ZHX2
|
| ZHX2 Interacts with Ephrin-B and regulates neural progenitor maintenance in the developing cerebral cortex.
|
| Wu C, Qiu R, Wang J, Zhang H, Murai K, Lu Q.
|
| J Neurosci 29(23):7404-12. doi: 10.1523/JNEUROSCI.5841-08.2009.
2009
|
| 23 | CFNS, EFNB1
|
| Additional EFNB1 mutations in craniofrontonasal syndrome.
|
| Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M.
|
| Am J Med Genet A 146A(15):2008-12. No abstract available.
2008
|
| 24 | CFNS, DLL3, EFNB1, FOAR, FRNS, GPC3, LRP2, PAMD, SCDO1, SGBS, STRA6, UNK
|
| Genetic aspects of human congenital diaphragmatic hernia.
|
| Pober BR.
|
| Clin Genet 74(1):1-15. Epub 2008 May 28. 2008
|
| 25 | EFNB1, FGFR1, FGFR2, FGFR3, MSX2, RAB23, TWIST1
|
| Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
|
| Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E.
|
| Front Oral Biol 12:107-43. Review.
2008
|
| 26 | CFNS, EFNB1, OPHN1, PJA1, EDA
|
| Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
|
| Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P.
|
| Clin Genet 72(6):506-16. Epub 2007 Oct 16. 2007
|
| 27 | CFNS, EFNB1
|
| Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
|
| Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P.
|
| Eur J Hum Genet [Epub ahead of print] 2007
|
| 28 | CFNS, EFNB1
|
| Subtypes of frontonasal dysplasia are useful in determining clinical prognosis.
|
| Wu E, Vargevik K, Slavotinek AM.
|
| Am J Med Genet A 143(24):3069-78. 2007
|
| 29 | EFNB1, CFNS
|
| The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males.
|
| Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO.
|
| Am J Hum Genet 78(6):999-1010. Epub 2006 Apr 28. 2006
|
| 30 | EFNB1, CFNS
|
| Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
|
| Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie AO.
|
| Eur J Hum Genet 14(7):884-7. Epub 2006 Apr 26. 2006
|
| 31 | FGFR2, FGFR3, TWIST1, EFNB1, CRS, CRS2
|
| Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
|
| Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Ven‰ncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T.
|
| Am J Med Genet A 140(23):2631-9. Review. 2006
|
| 32 | CFNS, EFNB1
|
| Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.
|
| Wieacker P, Wieland I.
|
| Mol Genet Metab 86(1-2):110-6. 2005
|
| 33 | EFNB1, CFNS
|
| Mutations of the ephrin-b1 gene cause craniofrontonasal syndrome.
|
| Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P.
|
| Am J Hum Genet 74(6):1209-15. Epub 2004 Apr 29. 2004
|
| 34 | EFNB1, CFNS
|
| Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
|
| Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO.
|
| Proc Natl Acad Sci U S A 101(23):8652-7. Epub 2004 May 27. 2004
|
| 35 | EFNB1
|
| Tiam1 mediates neurite outgrowth induced by ephrin-B1 and EphA2.
|
| Tanaka M, Ohashi R, Nakamura R, Shinmura K, Kamo T, Sakai R, Sugimura H.
|
| EMBO J. 23(5):1075-88. 2004
|
| 36 | EFNB1
|
| Ephrin-B1 forward and reverse signaling are required during mouse development.
|
| Davy A, Aubin J, Soriano P.
|
| Genes Dev. 18(5):572-83. 2004
|
| 37 | EFNB1
|
| Control of skeletal patterning by ephrinB1-EphB interactions.
|
| Compagni A, Logan M, Klein R, Adams RH.
|
| Dev Cell. 5(2):217-30. 2003
|
| 38 | EFNB1
|
| EphB1 associates with Grb7 and regulates cell migration.
|
| Han DC, Shen TL, Miao H, Wang B, Guan JL.
|
| J Biol Chem. 277(47):45655-61. 2002
|
| 39 | EFNB1, HEPH, MSN, OPHN1
|
| Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.
|
| Schueler MG, Higgins AW, Nagaraja R, Tentler D, Dahl N, Gustashaw K, Willard HF.
|
| Genomics 66(1):104-9. 2000
|
| 40 | EFNB1
|
| Cell-cell adhesion mediated by binding of membrane-anchored ligand LERK-2 to the EPH-related receptor human embryonal kinase 2 promotes tyrosine kinase activity.
|
| Böhme B, VandenBos T, Cerretti DP, Park LS, Holtrich U, Rübsamen-Waigmann H, Strebhardt K.
|
| J Biol Chem. 271(40):24747-52. 1996
|
| 41 | EFNB1
|
| Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase Elk to a 200-kilobasepair region in human chromosome Xq12.
|
| Fletcher FA, et al.
|
| Genomics 25 : 334-335. 1995
|
| 42 | EFNA1, EFNB1, EFNA3, EFNA4
|
| Ligands for the receptor tyrosine kinases hek and elk : isolation of cDNAs encoding a family of proteins.
|
| Kozlosky CJ, et al.
|
| Oncogene 10 : 299-306. 1995
|
| 43 | EFNB1
|
| Molecular characterization of a family of ligands for eph-related tyrosine kinase receptors.
|
| Beckmann MP, et al.
|
| EMBO J 13 : 3757-3762. 1994
|