Affinage

EFNB1

Ephrin-B1 · UniProt P98172

Length
346 aa
Mass
38.0 kDa
Annotated
2026-06-09
60 papers in source corpus 23 papers cited in narrative 23 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

EFNB1 (ephrin-B1) is a membrane-bound ligand for Eph-family receptor tyrosine kinases that mediates bidirectional cell-cell signaling to control tissue boundary formation, endothelial morphogenesis, and cellular adhesion (PMID:7621826, PMID:8941926). In forward signaling it binds and activates multiple Eph receptors — including EphB2/HEK2, ELK, and others — inducing receptor autophosphorylation and driving cell-cell adhesion and aggregate formation, with juxtacrine presentation being more potent than soluble ligand (PMID:7621826, PMID:8798744). Through EphB2 specifically, EFNB1 engagement triggers RNF186-mediated ubiquitination of EPHB2 at Lys892, which recruits MAP1LC3B to initiate autophagy and maintain intestinal epithelial homeostasis (PMID:33280498), and activates downstream Wnt/β-catenin and FAK signaling (PMID:38114003). EFNB1 reverse signaling through its intracellular tail and PDZ-binding motif acts via GRIP1 to suppress RhoA activation and vascular smooth muscle contractility (PMID:22393061), promotes CXCL12 production by osteogenic stromal cells to support hematopoietic stem/progenitor maintenance (PMID:30326247), and directs T cell chemotaxis toward CXCL12 (PMID:25779027). EFNB1 also forms a PDZ-binding-motif-dependent complex with EGFR, and direct EGFR phosphorylation of tyrosines within this motif disrupts the complex and controls EFNB1-dependent cell adhesion to fibronectin (PMID:40619000, PMID:23811940). Heterozygous loss-of-function mutations in EFNB1 cause craniofrontonasal syndrome, where mosaic ephrin-B1 expression arising from X-inactivation produces aberrant cell sorting and disrupted coronal-suture boundary formation (PMID:15166289, PMID:23614707).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 1995 High

    Establishing that the membrane-bound ligand EFNB1 functionally engages a defined subset of Eph receptors answered which receptors transduce its signal and revealed receptor selectivity.

    Evidence Chimeric Eph-TrkB receptor constructs in NIH 3T3 cells with focus-formation and binding assays

    PMID:7621826

    Open questions at the time
    • Cytoplasmic-domain regulatory role only preliminarily mapped
    • Downstream effectors of receptor activation not identified
  2. 1996 High

    Demonstrating that EFNB1 binding induces Eph receptor phosphorylation and cell aggregation, and that co-expression dampens kinase activity, defined the forward-signaling output and the importance of juxtacrine presentation.

    Evidence HEK2 expression in 32D cells; receptor phosphorylation and cell aggregation assays; soluble-ligand competition

    PMID:8798744

    Open questions at the time
    • Mechanism of cis-inhibition by co-expression not resolved
    • Physiological cell context not addressed
  3. 1996 Medium

    Showing ligand-specific promotion of endothelial capillary-like assembly tied EFNB1-Eph signaling to a tissue morphogenetic process.

    Evidence In vitro capillary-assembly assays in renal microvascular endothelial cells comparing LERK-1 vs LERK-2

    PMID:8941926

    Open questions at the time
    • Single-lab in vitro assay
    • Molecular mediators of morphogenesis not defined
  4. 2004 High

    Linking heterozygous EFNB1 loss-of-function to craniofrontonasal syndrome and the paradoxically severe female phenotype established the X-inactivation/mosaic-interference disease model.

    Evidence Mutation sequencing, X-inactivation analysis in patient tissues, and mouse embryo in situ expression

    PMID:15166289

    Open questions at the time
    • Direct mechanistic test of cellular interference not yet performed in this study
    • X-inactivation skewing not detected as explanation
  5. 2005 Medium

    Mapping the CFNS mutation spectrum to the extracellular ephrin domain and the reverse-signaling intracellular sites established that both ligand-receptor binding and reverse signaling are mechanistically required.

    Evidence DNA sequencing and mutation-spectrum analysis across a CFNS cohort

    PMID:15959873

    Open questions at the time
    • No direct biochemical assay of reverse signaling in this study
    • Genotype-phenotype correlation incomplete
  6. 2007 High

    Demonstrating that specific CFNS missense mutations disrupt receptor binding and abolish intracellular Tyr324/Tyr329 phosphorylation, and that some alleles escape nonsense-mediated decay, linked mutation class to molecular consequence.

    Evidence Site-directed mutants in NIH 3T3 cells with Western blot, phosphorylation assays, time-lapse microscopy, RT-PCR; patient-fibroblast clonal expansion

    PMID:18043713 PMID:20565770

    Open questions at the time
    • Downstream signaling consequences of lost Tyr phosphorylation not traced
    • Quantitative threshold of mosaicism for phenotype unknown
  7. 2011 High

    Showing that EFNB1 reverse signaling suppresses RhoA and smooth muscle contractility through GRIP1 defined a concrete reverse-signaling effector pathway with physiological output.

    Evidence Smooth-muscle-specific Efnb1 KO mice, Grip1 siRNA, RhoA and MLC phosphorylation assays, ex vivo arteries, blood pressure measurement

    PMID:22393061

    Open questions at the time
    • Direct GRIP1-RhoA biochemical link not fully resolved
    • Relevance to human vascular disease untested
  8. 2011 Medium

    Defining EFNB1/EFNB2 roles in T cell IL-6/STAT3 signaling and the redundancy revealed by single versus double knockouts clarified its immunological function.

    Evidence Conditional single and double KO mice; STAT3 phosphorylation, bone-marrow reconstitution, T cell differentiation, LCMV infection

    PMID:21976681 PMID:22182253

    Open questions at the time
    • Single Efnb1 KO showed no phenotype, implying redundancy
    • Direct biochemical link between EFNB1 and IL-6 receptor signaling not established
  9. 2013 High

    Demonstrating cell sorting/clustering of ephrinB1-overexpressing cells and gene-dosage effects provided direct mechanistic support that cellular interference, not simple loss, drives the craniofacial phenotype.

    Evidence Xenopus cell sorting/clustering assays; array-CGH duplication analysis with mouse EFNB1 cDNA model; dual-luciferase uORF reporter assays in mosaic males

    PMID:21542058 PMID:23335590 PMID:23614707

    Open questions at the time
    • Molecular signal driving sorting between EFNB1-high and EFNB1-low cells not identified
    • Tissue-level boundary mechanics not directly imaged in human suture
  10. 2013 Medium

    Identifying an EFNB1-EGFR complex that sustains ERK signaling under cetuximab implicated EFNB1 in receptor tyrosine kinase crosstalk and tumor growth.

    Evidence Co-IP, signaling assays, EFNB1 knockdown, murine HNSCC tumor model

    PMID:23811940

    Open questions at the time
    • Structural basis of EGFR-EFNB1 association not defined here
    • Single-lab in vivo model
  11. 2018 Medium

    Establishing that stromal EFNB1 reverse signaling activates CXCL12 to maintain hematopoietic stem/progenitor cells extended its reverse-signaling role into niche biology.

    Evidence Osterix-Cre conditional EfnB1 KO; LTC-IC and colony-formation assays; EFNB1-Fc stimulation; EPHB1/EPHB2 blocking antibodies

    PMID:30326247

    Open questions at the time
    • Mechanism linking reverse signaling to CXCL12 transcription unknown
    • Single-lab study
  12. 2020 High

    Showing that EFNB1 engagement drives RNF186-dependent ubiquitination of EPHB2 at Lys892 to recruit MAP1LC3B established a forward-signaling axis triggering autophagy and intestinal homeostasis.

    Evidence Co-IP, K892R mutagenesis, ubiquitination and autophagy assays, rnf186/ephb2 KO mice, DSS colitis model, EFNB1-Fc

    PMID:33280498

    Open questions at the time
    • How ubiquitinated EPHB2 nucleates autophagosome formation not detailed
    • Generalizability beyond colonic epithelium untested
  13. 2020 Medium

    Demonstrating that EFNB1, EPHB2, NMDA receptor, and presenilin-1 form de novo neuroprotective survival complexes connected EFNB1 signaling to excitotoxicity resistance and Alzheimer-relevant biology.

    Evidence Co-IP, peptide disruption, survival assays, NMDAR-EPSC electrophysiology, post-mortem AD brain analysis

    PMID:33005890

    Open questions at the time
    • Stoichiometry and assembly order of the complex unresolved
    • Single-lab Co-IP-based complex
  14. 2024 Medium

    Identifying platelet EFNB1 reverse signaling through AKT, activated by tumor EPHB1, in driving serotonin release and metastatic growth extended reverse signaling into the platelet-tumor axis.

    Evidence Metastatic niche labeling, platelet depletion, EPHB1 gain/loss-of-function, recombinant protein, Tph1-KO mice, AKT signaling

    PMID:39648610

    Open questions at the time
    • Direct effector linking EFNB1 tail to AKT in platelets not defined
    • Single-lab model
  15. 2025 High

    Demonstrating PBM-dependent EFNB1-EGFR association and direct EGFR phosphorylation of EFNB1's PBM that disrupts the complex and controls fibronectin adhesion defined a regulatory phospho-switch governing EFNB1 adhesive function.

    Evidence BioID proximity proteomics, Co-IP, in vitro kinase assay, PBM mutants, fibronectin adhesion assay

    PMID:40619000

    Open questions at the time
    • Physiological/developmental context of EGFR-EFNB1 regulation unknown
    • Identity of adhesion machinery downstream of the PBM not resolved
  16. 2025 Medium

    Showing that dengue NS1 binds endothelial EFNB1 and requires EFNB1 phosphorylation to trigger barrier dysfunction implicated EFNB1 as a viral co-factor and decoy target.

    Evidence NS1 interactome mass spectrometry, interface mapping, phosphorylation and barrier-dysfunction assays, EFNB1-Fc decoys in vitro and in vivo (preprint)

    PMID:bio_10.1101_2025.11.19.689067

    Open questions at the time
    • Preprint, not peer-reviewed
    • Signaling pathway downstream of NS1-EFNB1 engagement undefined

Open questions

Synthesis pass · forward-looking unresolved questions
  • The proximal intracellular effectors and signal-transduction logic connecting EFNB1 reverse signaling to its diverse outputs (RhoA, AKT, CXCL12 induction, neuroprotection) remain incompletely defined.
  • No unifying biochemical mechanism links the EFNB1 tail to its varied downstream pathways
  • Structural basis of effector selection (GRIP1 vs EGFR vs AKT) unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0048018 receptor ligand activity 4 GO:0060089 molecular transducer activity 3 GO:0098631 cell adhesion mediator activity 2
Localization
GO:0005886 plasma membrane 4
Pathway
R-HSA-162582 Signal Transduction 4 R-HSA-1266738 Developmental Biology 3 R-HSA-1643685 Disease 3 R-HSA-9612973 Autophagy 1
Partners
EGFREPHB1EPHB2GRIP1PSEN1RNF186
Complex memberships
EFNB1-EGFR complexNMDAR-EPHB2-presenilin-1 survival complex

Evidence

Reading pass · 23 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 LERK-2 (EFNB1) is a membrane-bound ligand that signals through three different Eph-related receptor tyrosine kinases: Cek5, Cek10, and Elk, but fails to interact functionally with Cek9. Preliminary mutagenesis suggested a negative regulatory role for the LERK-2 cytoplasmic domain in LERK-2 signaling. Chimeric receptor constructs (Eph ectodomain + TrkB cytoplasmic domain) expressed in NIH 3T3 cells; focus formation assays; binding assays; mutagenesis The EMBO journal High 7621826
1996 Membrane-bound LERK-2 (EFNB1) binds HEK2 (an EPH-family receptor) and signals through it, inducing receptor phosphorylation and cell-cell adhesion/aggregate formation. Soluble LERK-2 can also signal through HEK2. Co-expression of HEK2 and LERK-2 in the same cell reduces kinase activity and autophosphorylation compared to juxtacrine stimulation. Expression of HEK2 in 32D cells; coincubation assays; receptor phosphorylation assays; cell aggregation assays; inhibition with soluble LERK-2 The Journal of biological chemistry High 8798744
1996 ELK receptor and its ligand LERK-2 (EFNB1) are co-expressed on human renal microvascular endothelial cells (HRMEC). LERK-2 (but not LERK-1/B61) promotes in vitro assembly of HRMEC into capillary-like structures, demonstrating receptor-ligand specificity in endothelial morphogenesis. In vitro capillary-like assembly assay comparing HRMEC and HUVEC responses to LERK-1 vs LERK-2; immunohistochemistry of developing kidney Kidney international. Supplement Medium 8941926
2004 Heterozygous loss-of-function mutations in EFNB1 cause craniofrontonasal syndrome (CFNS). The more severe female phenotype is proposed to result from patchwork loss of ephrin-B1 due to X-inactivation, disturbing tissue boundary formation at the developing coronal suture. EFNB1 is X-inactivated but X-inactivation is not markedly skewed in blood or cranial periosteum of CFNS females. Mutation analysis (sequencing); X-inactivation analysis in patient tissues; in situ expression analysis in mouse embryos Proceedings of the National Academy of Sciences of the United States of America High 15166289
2005 The majority of CFNS-causing EFNB1 mutations (26/33) are located in exons 2 and 3 encoding the extracellular ephrin domain. Frameshift mutations in the last 25 codons disrupt intracellular binding sites for Grb4 and PDZ-effector proteins involved in reverse signaling, demonstrating that ephrin-B1 reverse signaling is mechanistically important. DNA sequencing of EFNB1 in CFNS patients; mutation spectrum analysis Human mutation Medium 15959873
2007 EFNB1 missense mutations in CFNS patients disrupt Eph receptor-ephrin-B1 interactions at the ligand-receptor dimerization interface (G-H loop). The P54L mutation prevents Eph-receptor-mediated cell cluster formation and abolishes intracellular ephrin-B1 Tyr324 and Tyr329 phosphorylation. The T111I mutation reduces Tyr324/Tyr329 phosphorylation. Splice-site mutation c.406+2T>C causes intron retention or cryptic splice site activation. Frameshift c.614_615delCT escapes nonsense-mediated decay but does not produce soluble ephrin-B1 protein. RT-PCR; Western blot; time-lapse microscopy; cell culture transfection of NIH 3T3 cells with site-directed mutants; phosphorylation analysis BMC medical genetics High 20565770
2007 EFNB1 mutations can result in differential degradation by the nonsense-mediated mRNA decay (NMD) pathway: splice-site mutation c.407-2A>T and frameshift c.377_384delTCAAGAAG show severe transcript depletion, while c.614_615delCT (premature termination codon near 3' end of penultimate exon) escapes NMD, consistent with the '50-55 bp' rule. Clonal expansion of patient fibroblasts confirmed cellular mosaicism for wild-type vs. mutant EFNB1-expressing cells. RT-PCR on fibroblast cultures from CFNS females; quantitative mRNA analysis; clonal expansion of patient-derived cells European journal of human genetics : EJHG Medium 18043713
2011 Ephrin-B1 (EFNB1) reverse signaling reduces RhoA activation and vascular smooth muscle cell (VSMC) contractility in vitro. In mesenteric arteries from smooth muscle-specific Efnb1 knockout mice, RhoA activity and myosin light chain phosphorylation were increased. Knockdown of GRIP1 (associated with Efnb1 intracellular tail) partially eliminated Efnb1's effect on VSMC contractility. Efnb1 KO mice on high-salt diet showed heightened blood pressure increments. Conditional Efnb1 knockout mice; siRNA knockdown of Grip1; RhoA activity assay; myosin light chain phosphorylation assay; ex vivo artery analysis; blood pressure measurement The Journal of biological chemistry High 22393061
2011 Double conditional knockout of both Efnb1 and Efnb2 in T cells compromised IL-6 signaling, specifically abating STAT3 phosphorylation upon IL-6 stimulation, contributing to defects in T cell development, homeostatic expansion, and Th1/Th17 differentiation. loxP-mediated conditional double knockout mice; STAT3 phosphorylation assay; competitive bone marrow reconstitution; in vitro T cell differentiation assays; LCMV infection model The Journal of biological chemistry Medium 21976681
2011 Single T cell-specific EFNB1 knockout mice showed no significant defects in T cell development, activation, proliferation, or differentiation into Th1, Th2, Th17 or Treg cells, indicating functional redundancy with other ephrin family members in T cells. T cell-specific EFNB1 conditional knockout; flow cytometry of thymus/spleen populations; competitive bone marrow reconstitution; T cell differentiation assays BMC immunology Medium 22182253
2011 In Xenopus tissue, cells overexpressing ephrinB1 cluster and sort out from wild-type cells, providing in vitro mechanistic evidence that cellular interference (due to mosaic EFNB1 expression) drives the CFNS phenotype in heterozygous females. In vitro cell sorting/clustering experiments in Xenopus tissue with overexpression of ephrinB1 Clinical genetics Medium 23614707
2011 Duplication of EFNB1 produces ~1.6-fold more EFNB1 transcript from the duplicated X chromosome. In a mouse model carrying targeted human EFNB1 cDNA, abnormal cell sorting occurs in the cranial region, demonstrating that cellular mosaicism for different levels of ephrin-B1 (not just presence/absence) causes craniofacial abnormalities. Array-CGH; quantitative mRNA analysis; mouse model with targeted EFNB1 cDNA; cell sorting analysis in cranial region Human mutation Medium 21542058
2013 Males mosaic for EFNB1 mutations are more severely affected than constitutionally hemizygous males. A 5' UTR variant mutating the stop codon of a small upstream open reading frame (uORF) was demonstrated using a dual-luciferase reporter construct to exacerbate interference with translation of the wild-type EFNB1 protein. Denaturing HPLC; massively parallel sequencing; MLPA; Pyrosequencing; dual-luciferase reporter assay for 5' UTR uORF translation interference Human molecular genetics High 23335590
2013 EFNB1 forms a novel complex with EGFR in head and neck squamous cell carcinoma cells. Cetuximab (anti-EGFR) treatment drives a shift in EGFR dimerization partners toward EFNB1, and EFNB1 phosphorylation and downstream ERK signaling persist in the presence of cetuximab. EFNB1 attenuation slowed tumor growth and increased survival in a murine HNSCC model. Co-immunoprecipitation; signaling assays; EFNB1 knockdown; murine tumor model Cancer research Medium 23811940
2015 Deletion mutation of Efnb1 and Efnb2 intracellular tails revealed critical regions in controlling T cell chemotaxis toward CXCL12. T cells from dKO mice were compromised in migration to arthritic paws in vivo and in chemotaxis in vitro. Double conditional KO mice; intracellular tail deletion mutants; in vitro chemotaxis assay (CXCL12); in vivo migration to arthritic paws Arthritis & rheumatology Medium 25779027
2018 A novel uATG variant in the 5' UTR of EFNB1 (c.-411) creates a new upstream ATG that significantly reduces EFNB1 protein translation without affecting mRNA levels, as demonstrated by dual-luciferase reporter assays. Dual-luciferase reporter assay; mRNA quantification Molecular syndromology Medium 30976278
2018 EfnB1 in osteogenic lineage cells supports hematopoietic stem/progenitor cell (HSPC) maintenance. EFNB1 reverse signaling in stromal cells is required for activation of the HSPC-promoting factor CXCL12. Activation of EPHB2 on CD34+ HSPCs by EFNB1-Fc stimulation enhanced myeloid/erythroid colony formation, while blocking EPHB1 or EPHB2 inhibited LTC-IC maintenance. Conditional EfnB1 knockout in osteogenic lineage (Osterix-Cre); LTC-IC assays; colony formation assays; EFNB1-Fc stimulation; functional blocking antibodies against EPHB1/EPHB2; CXCL12 activation assays Experimental hematology Medium 30326247
2020 Upon stimulation by EFNB1 (ligand), EPHB2 receptor is ubiquitinated by the E3 ubiquitin ligase RNF186 at Lys892. This ubiquitination event recruits MAP1LC3B to trigger autophagy in colonic epithelial cells, contributing to intestinal homeostasis. Co-IP; site-directed mutagenesis (Lys892Arg EPHB2 mutant); EPHB2 ubiquitination assay; autophagy assays (MAP1LC3B recruitment); rnf186 and ephb2 knockout mice; DSS-induced colitis model; EFNB1-Fc recombinant protein treatment Autophagy High 33280498
2020 EFNB1 and BDNF-dependent neuroprotection against excitotoxicity requires de novo formation of 'survival complexes' consisting of NMDA receptor, EFNB1's receptor EPHB2, and presenilin 1. Absence of presenilin 1 reduces survival complex formation and abolishes neuroprotection. Familial Alzheimer disease presenilin 1 mutants decrease factor-stimulated survival complex formation and neuroprotection. Co-immunoprecipitation; EPHB2- and NMDA receptor-derived peptides disrupting complex formation; survival assays; electrophysiology (NMDA receptor-mediated EPSCs); analysis of post-mortem Alzheimer brain samples Brain communications Medium 33005890
2023 EFNB1-EPHB2 interaction activates downstream Wnt/β-catenin and FAK signaling pathways to promote gastric cancer cell invasion and migration. Fc-EFNB1 treatment increased invasion/migration abilities and induced high EPHB2 expression. EPHB2 knockdown completely abolished ephrin ligand-induced effects. Patient-derived xenografts; PCR array; gain/loss-of-function experiments; Fc-EFNB1 treatment; EPHB2 knockdown; signaling analysis (Wnt/β-catenin, FAK) International journal of biological macromolecules Medium 38114003
2024 Tumor cell-expressed EPHB1 and platelet-expressed EFNB1 mediate contact-dependent activation of platelets via EFNB1 reverse signaling-mediated AKT signaling activation. Activated platelets then release 5-HT (serotonin) which further enhances tumor growth in the liver metastatic niche of pancreatic ductal adenocarcinoma. mCherry metastatic niche-labeling system; platelet depletion in liver metastasis mouse model; gain/loss-of-function of EPHB1; recombinant protein treatment; Tph1-knockout mice; tumor-platelet adhesion assays; AKT signaling analysis Cancer communications Medium 39648610
2025 EFNB1 physically associates with EGFR in cells, and this complex formation depends on EFNB1's PDZ-binding motif (PBM). EGFR directly phosphorylates tyrosine residues within EFNB1's PBM, which disrupts the EFNB1-EGFR complex. The EFNB1-EGFR association is required for EFNB1-dependent cell adhesion to fibronectin. Proximity labeling proteomics (BioID); Co-IP; in vitro kinase assay demonstrating direct EGFR phosphorylation of EFNB1; PBM mutants; cell adhesion assay to fibronectin Molecular & cellular proteomics : MCP High 40619000
2025 Dengue virus NS1 protein binds EFNB1 at the endothelial cell surface to trigger endothelial barrier dysfunction. Phosphorylation of EFNB1 is necessary for NS1-induced barrier dysfunction. EFNB1-Fc fusion proteins act as decoys to block NS1-induced barrier dysfunction in vitro and in vivo. Comparative mass spectrometry (NS1 interactome); biochemical and computational interface mapping of EFNB1-NS1 complex; phosphorylation assays; barrier dysfunction assays in vitro and in vivo with EFNB1-Fc decoys bioRxivpreprint Medium bio_10.1101_2025.11.19.689067

Source papers

Stage 0 corpus · 60 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proceedings of the National Academy of Sciences of the United States of America 267 15166289
1995 Efficient cloning of cDNAs of retinoic acid-responsive genes in P19 embryonal carcinoma cells and characterization of a novel mouse gene, Stra1 (mouse LERK-2/Eplg2). Developmental biology 157 7649373
1995 Membrane-bound LERK2 ligand can signal through three different Eph-related receptor tyrosine kinases. The EMBO journal 145 7621826
1996 ELK and LERK-2 in developing kidney and microvascular endothelial assembly. Kidney international. Supplement 88 8941926
2006 The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. American journal of human genetics 81 16685650
1996 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. The Journal of biological chemistry 65 8798744
2013 Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human molecular genetics 60 23335590
2005 Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Human mutation 59 15959873
2020 RNF186 regulates EFNB1 (ephrin B1)-EPHB2-induced autophagy in the colonic epithelial cells for the maintenance of intestinal homeostasis. Autophagy 52 33280498
2011 Efnb1 and Efnb2 proteins regulate thymocyte development, peripheral T cell differentiation, and antiviral immune responses and are essential for interleukin-6 (IL-6) signaling. The Journal of biological chemistry 50 21976681
2013 Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. European journal of human genetics : EJHG 40 24281372
2006 Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. European journal of human genetics : EJHG 38 16639408
2007 Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. Clinical genetics 36 17941886
1994 LERK-2, a binding protein for the receptor-tyrosine kinase ELK, is evolutionarily conserved and expressed in a developmentally regulated pattern. Oncogene 29 7936648
2012 Possible role of Efnb1 protein, a ligand of Eph receptor tyrosine kinases, in modulating blood pressure. The Journal of biological chemistry 27 22393061
2007 Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. European journal of human genetics : EJHG 26 18043713
2010 A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. American journal of medical genetics. Part A 22 20734337
2015 Role of EFNB1 and EFNB2 in Mouse Collagen-Induced Arthritis and Human Rheumatoid Arthritis. Arthritis & rheumatology (Hoboken, N.J.) 19 25779027
2006 A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 19 16526919
1996 Molecular cloning of two novel transmembrane ligands for Eph-related kinases (LERKS) that are related to LERK-2. Growth factors (Chur, Switzerland) 18 8804996
1994 Genomic organization and chromosomal localization of mouse Eplg2, a gene encoding a binding protein for the receptor tyrosine kinase elk. Genomics 18 7896266
2018 Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1. Molecular syndromology 17 30976278
2018 Loss of EfnB1 in the osteogenic lineage compromises their capacity to support hematopoietic stem/progenitor cell maintenance. Experimental hematology 16 30326247
2010 The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC medical genetics 15 20565770
2013 Targeting ERBB receptors shifts their partners and triggers persistent ERK signaling through a novel ERBB/EFNB1 complex. Cancer research 14 23811940
2011 Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice. Human mutation 14 21542058
2011 The effect of conditional EFNB1 deletion in the T cell compartment on T cell development and function. BMC immunology 14 22182253
2020 Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. American journal of medical genetics. Part A 12 32022998
2007 EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. Congenital anomalies 11 17300690
2019 Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum. Frontiers in genetics 10 31824579
2011 A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 10 21385071
2011 Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia. European journal of medical genetics 10 21782985
2021 Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene. Orphanet journal of rare diseases 9 34174922
2016 Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1. Congenital anomalies 8 26208246
2014 Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 8 24919122
2023 Interaction between the EPHB2 receptor and EFNB1 ligand drives gastric cancer invasion and metastasis via the Wnt/β-catenin/FAK pathway. International journal of biological macromolecules 7 38114003
2020 Presenilin1 familial Alzheimer disease mutants inactivate EFNB1- and BDNF-dependent neuroprotection against excitotoxicity by affecting neuroprotective complexes of N-methyl-d-aspartate receptor. Brain communications 7 33005890
2020 Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1. European journal of medical genetics 6 32240825
2018 Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 6 29561715
2016 A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype. Molecular syndromology 6 27194971
2013 Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. Clinical genetics 6 23614707
2013 Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome. Meta gene 6 25606386
2021 Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation. Molecular syndromology 5 34602953
2020 Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay. Frontiers in pediatrics 5 32984200
2013 A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication. Gene 5 23845783
2024 Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer. European journal of human genetics : EJHG 4 39643662
2024 Reciprocal tumor-platelet interaction through the EPHB1-EFNB1 axis in the liver metastatic niche promotes metastatic tumor outgrowth in pancreatic ductal adenocarcinoma. Cancer communications (London, England) 4 39648610
2018 Analysis of the association of EPHB6, EFNB1 and EFNB3 variants with hypertension risks in males with hypogonadism. Scientific reports 4 30262919
2015 Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation. Plastic and reconstructive surgery. Global open 4 26180728
2013 A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome. Case reports in genetics 3 23509643
2019 Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. Journal of human genetics 2 31285555
2016 First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis. Annals of clinical and laboratory science 2 27650623
2025 EGFR Phosphorylates and Associates with EFNB1 to Regulate Cell Adhesion to Fibronectin. Molecular & cellular proteomics : MCP 1 40619000
2025 Comprehensive analysis of the EFNB1 gene c.451G>A(p.Gly151Ser) mutation: structural, functional, and pathogenicity insights through in silico analysis. Computers in biology and medicine 1 40816004
2023 Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman. Frontiers in genetics 1 36685875
2023 EFNB1 levels determine distinct drug response patterns guiding precision therapy for B-cell neoplasms. iScience 1 38155773
2026 Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis. Molecular genetics & genomic medicine 0 42026842
2025 Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome. European journal of human genetics : EJHG 0 40490530
2025 [Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 41811039
2022 Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity? Pharmaceuticals (Basel, Switzerland) 0 36558986

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