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    EFNB1 ephrin B1 [ Homo sapiens (human) ]

    Gene ID: 1947, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Construction of three-gene-based prognostic signature and analysis of immune cells infiltration in children and young adults with B-acute lymphoblastic leukemia.

    Construction of three-gene-based prognostic signature and analysis of immune cells infiltration in children and young adults with B-acute lymphoblastic leukemia.
    Xiang C, Wu J, Yu L., Free PMC Article

    07/23/2022
    Peripheral EphrinB1/EphB1 signalling attenuates muscle hyperalgesia in MPS patients and a rat model of taut band-associated persistent muscle pain.

    Peripheral EphrinB1/EphB1 signalling attenuates muscle hyperalgesia in MPS patients and a rat model of taut band-associated persistent muscle pain.
    Jin F, Zhao L, Hu Q, Qi F., Free PMC Article

    08/7/2021
    EPH receptor B2 stimulates human monocyte adhesion and migration independently of its EphrinB ligands.

    EPH receptor B2 stimulates human monocyte adhesion and migration independently of its EphrinB ligands.
    Vreeken D, Bruikman CS, Cox SML, Zhang H, Lalai R, Koudijs A, van Zonneveld AJ, Hovingh GK, van Gils JM., Free PMC Article

    02/13/2021
    Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.

    Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
    Acosta-Fernández E, Zenteno JC, Chacón-Camacho OF, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Romo-Huerta CO, Zepeda-Romero LC, López-Marure E, Acosta-León J, García-Cruz D, Maciel-Cruz EJ, Corona-Rivera JR.

    01/16/2021
    Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in 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.

    01/2/2021
    Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.

    Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.
    Howaldt A, Nampoothiri S, Yesodharan D, Udayakumaran S, Subash P, Kornak U.

    12/28/2019
    Analysis of the association of EPHB6, EFNB1 and EFNB3 variants with hypertension risks in males with hypogonadism

    Analysis of the association of EPHB6, EFNB1 and EFNB3 variants with hypertension risks in males with hypogonadism.
    Wu T, Zhang BQ, Raelson J, Yao YM, Wu HD, Xu ZX, Marois-Blanchet FC, Tahir MR, Wang Y, Bradley WE, Luo H, Wu J, Sheng JZ, Hu SJ., Free PMC Article

    10/26/2019
    Through interactions with nephrin, ephrin-B1 maintains the structure and barrier function of the slit diaphragm. Moreover, phosphorylation of ephrin-B1 and, consequently, JNK are involved in the development of podocyte injury.

    Nephrin-Binding Ephrin-B1 at the Slit Diaphragm Controls Podocyte Function through the JNK Pathway.
    Fukusumi Y, Zhang Y, Yamagishi R, Oda K, Watanabe T, Matsui K, Kawachi H., Free PMC Article

    09/14/2019
    the results of this study confirm that EfnB1 contributes to the stromal support of hematopoietic stem/progenitor cells (HSPCs) function and maintenance and may be an important factor in regulating the HSPC niche.

    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.

    03/30/2019
    Pathogenic or likely pathogenic variants in non-FGFR genes were identified in 43 individuals, with diagnostic yields of 14% and 15% in retrospective and prospective cohorts, respectively. Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome.

    A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
    Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T.

    02/2/2019
    Lymphomas with low UTX expression express high levels of Efnb1, and cause significantly poor survival.

    UTX is an escape from X-inactivation tumor-suppressor in B cell lymphoma.
    Li X, Zhang Y, Zheng L, Liu M, Chen CD, Jiang H., Free PMC Article

    12/22/2018
    Chronic hypoxia-induced slug promotes invasive behavior of prostate cancer cells by activating the expression of ephrin-B1.

    Chronic hypoxia-induced slug promotes invasive behavior of prostate cancer cells by activating expression of ephrin-B1.
    Iwasaki K, Ninomiya R, Shin T, Nomura T, Kajiwara T, Hijiya N, Moriyama M, Mimata H, Hamada F., Free PMC Article

    10/13/2018
    This study showed that EphB2 cells have a transient increase in migration after heterotypic activation, which underlies a shift in the EphB2-ephrinB1 border but is not required for segregation or border sharpening.

    Cell segregation and border sharpening by Eph receptor-ephrin-mediated heterotypic repulsion.
    Taylor HB, Khuong A, Wu Z, Xu Q, Morley R, Gregory L, Poliakov A, Taylor WR, Wilkinson DG., Free PMC Article

    03/3/2018
    that expression of EFNB1 and EFNB2 is implicated in Th cell differentiation and migration to inflammatory sites in both EAE and MS

    EphrinB1 and EphrinB2 regulate T cell chemotaxis and migration in experimental autoimmune encephalomyelitis and multiple sclerosis.
    Luo H, Broux B, Wang X, Hu Y, Ghannam S, Jin W, Larochelle C, Prat A, Wu J.

    02/24/2018
    we demonstrate that mosaicism for EPHRIN-B1 expression induced by random X inactivation in heterozygous females results in robust cell segregation in human neuroepithelial cells, thus supplying experimental evidence that Eph/ephrin-mediated cell segregation is relevant to pathogenesis in human CFNS patients.

    EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.
    Niethamer TK, Larson AR, O'Neill AK, Bershteyn M, Hsiao EC, Klein OD, Pomerantz JH, Bush JO., Free PMC Article

    11/25/2017
    one novel (IVS2+3G>T) and one previously reported mutation (p.Gly151Ser) in EFNB1 Both patients were de novo cases without a family history of Craniofrontonasal syndrome.

    First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.
    Yoo H, Ko JM, Lim BC, Cheong HI.

    01/14/2017
    While ephrin-B1 deficiency leads to abnormal visual pathways in mice, it leaves the human visual system, apart from deficits in binocular vision, largely normal.

    Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome.
    Hoffmann MB, Thieme H, Liedecke K, Meltendorf S, Zenker M, Wieland I.

    03/12/2016
    that EphrinB1 (EFNB1) co-localizes with microtubules (MTs) during all phases of the cell cycle.

    EphrinB1: novel microtubule associated protein whose expression affects taxane sensitivity.
    Colbert PL, Vermeer DW, Wieking BG, Lee JH, Vermeer PD., Free PMC Article

    11/28/2015
    we report a family with a G151S mutation in the EFNB1 gene. The mutation was identified in two severely affected sisters and paradoxically in their clinically unaffected father.

    Report of a family with craniofrontonasal syndrome.
    Özylmaz B, Gezdirici A, Özen M, Kalenderer Ö.

    11/21/2015
    T cells from rheumatoid arthritis (RA) patients expressed higher EFNB1 mRNA levels, which correlated with RA symptoms and laboratory findings. Expression of EFNB1 in T cells might be a parameter for monitoring RA disease activity and treatment responses.

    Role of EFNB1 and EFNB2 in Mouse Collagen-Induced Arthritis and Human Rheumatoid Arthritis.
    Hu Y, Wang X, Wu Y, Jin W, Cheng B, Fang X, Martel-Pelletier J, Kapoor M, Peng J, Qi S, Shi G, Wu J, Luo H.

    09/26/2015
    Results indicate that EphrinB1 is uniquely dysregulated in medulloblastoma and promotes oncogenic responses in medulloblastoma cells, implicating ephrinB1 as a potential target

    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., Free PMC Article

    09/26/2015
    EphB2/ephrin-B1 were invoked in dental pulp stem cells with TNF-alpha treatment via the JNK-dependent pathway, but not NF-kB, p38 MAPK or MEK signalling.

    Stimulation of EphB2/ephrin-B1 signalling by tumour necrosis factor alpha in human dental pulp stem cells.
    Zhu L, Dissanayaka WL, Green DW, Zhang C., Free PMC Article

    06/20/2015
    Patients with EFNB1 mutations have a clear phenotype. This study will facilitate genetic counseling of parents and patients, and contribute to the diagnostic and screening process of patients with suspected CFNS.

    Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
    van den Elzen ME, Twigg SR, Goos JA, Hoogeboom AJ, van den Ouweland AM, Wilkie AO, Mathijssen IM., Free PMC Article

    04/4/2015
    CNK1 mediates ephrinB1 signaling that promotes cell migration through RhoA and JNK activity.

    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., Free PMC Article

    10/18/2014
    EphrinB1 expression is related to the metastasis of breast cancer and its enhanced expression confers a poor prognosis, suggesting that EphrinB1 may be a relevant therapeutic target in breast cancers.

    Enhanced expression of EphrinB1 is associated with lymph node metastasis and poor prognosis in breast cancer.
    Yin H, Lu C, Tang Y, Wang H, Wang H, Wang J.

    07/19/2014
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