EFNB1

Last update 08 May 2025

Basic Info

Synonyms

CFNS, EFL-3, EFL3

+ [13]

Introduction

Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:7973638, PubMed:8070404). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:7973638, PubMed:8070404). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:7973638, PubMed:8070404). Can also bind EPHB2 and EPHB3 (PubMed:8070404). Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons (By similarity).

100 Clinical Results associated with EFNB1

100 Translational Medicine associated with EFNB1

0 Patents (Medical) associated with EFNB1

441

Literatures (Medical) associated with EFNB1

01 Apr 2025·American Journal of Neuroradiology

Pituitary Gland Duplication Syndrome: An International Imaging Analysis

Article

Author: Tähepõld, Annika ; Rossi, Andrea ; Pasquariello, Rossella ; Lequin, Maarten H ; Loorits, Dagmar ; Severino, Mariasavina ; Pasquariello, Rosa ; Ilves, Pilvi ; D'Arco, Felice ; Pezzetti, Giulio ; Löbel, Ulrike ; Craven, Ian ; Catala, Martin ; D’Arco, Felice

BACKGROUND AND PURPOSEDuplication of the pituitary gland is a rare developmental anomaly. Multiple associated craniofacial malformations have previously been reported with the largest series to date consisting of 5 patients. In this multi-institutional series of 10 patients, we present a detailed review of the imaging features and discuss a possible overarching pathogenesis that would explain most of the detected malformations.MATERIALS AND METHODSInclusion criteria for this retrospective imaging review were the presence of a pituitary stalk and gland duplication and the characteristic appearance of the hypothalamic ventral midline. In addition to the clinical presentation, we recorded the imaging findings of 10 patients (9 girls) through onsite and online reviews. Genetic analysis was available for 6 patients.RESULTSThe duplicated pituitary stalk and gland showed normal imaging appearances in all patients. Mammillary bodies were clearly identified lateral to the characteristic prominence of the hypothalamic ventral midline. Strands of tissue extending to the anterior dura ("limited ventral myeloschisis") were noted at the medulla oblongata in 10, and at the cervical spinal cord in 7 patients. The medulla oblongata showed a "butterfly" appearance on axial images in 9 patients. Ten patients had cervical segmentation anomalies ("zipperlike"), 9 had anterior-posterior brainstem patterning defects (small pons, elongated medulla), and corpus callosum measurements were abnormal in all patients. Three patients each presented with diencephalic-mesencephalic junction abnormalities and 4 with an anterior mesencephalic "cap." An oropharyngeal teratoma was present in 4 patients. Genetics was normal in 3 of the 6 patients studied; the remainder were found to have mutations in EFNB1 and a gene variant of GIT1, 2 copies of 7 and 8 exon of SMN1 gene, and 2.126 megabase duplication at bands q11.1 and q11.2 of 1 chromosome 15, respectively.CONCLUSIONSDuplication of the pituitary gland presents as well-defined craniofacial and cervical spine malformation phenotype. Axial mesoderm duplication generating an excess of Sonic Hedgehog may be the primary embryologic driver leading to this condition.

01 Apr 2025·European Journal of Human Genetics

Craniofrontonasal syndrome in a patient with an inv(X)(p22.2q13.1), separating EFNB1 from its enhancer

Article

Author: Fritz, Barbara ; Bohlander, Stefan K ; Kakadia, Purvi M

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder caused by loss of function variants (LOFVs) in the ephrin B1 (EFNB1) gene located on Xq13.1. In CFNS, unlike in other X-linked disorders, females with heterozygous EFNB1 pathogenic variants (PVs) have a severe phenotype, whereas males carrying hemizygous EFNB1 PVs have a mild phenotype. Here we report a female CFNS patient who was diagnosed with the typical features of CFNS as a new-born. Chromosomal analysis revealed a de novo pericentric inversion of one X chromosome; inv(X)(p22q13). Molecular testing for EFNB1 mutations and a SNP-array test for genomic imbalances returned negative results. We identified the inversion breakpoints using whole genome sequencing (WGS). One of the breakpoints was about 97 kbp downstream of the 3' end of the EFNB1 gene, separating a potential EFNB1 enhancer region from the EFNB1 gene. To our knowledge, this is the first case of CFNS caused by a large structural variant, altering the genomic and regulatory context of EFNB1.

01 Apr 2025·Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Melatonin enhances neurogenesis and neuroplasticity in long-term recovery following cerebral ischemia in mice

Article

Author: Yilmaz, Bayram ; Kilic, Ertugrul ; Celik, Ulkan ; Beker, Merve ; Elibol, Birsen ; Caglayan, Ahmet Burak ; Altug, Burcugul ; Beker, Mustafa Caglar

The important therapeutic role of melatonin in neuropathological conditions is underscored by a broad array of studies, many of which elucidated its neuroprotective properties. Yet, our scientific knowledge still needs several approaches to uncover molecular mechanisms. In this study, we contextually modelled cerebral ischemia through transient intraluminal middle cerebral artery occlusion. Melatonin was administered via an intraperitoneally placed mini osmotic pump, and released periodically from 3 days post-ischemia (dpi) to 56 dpi. We conferred several lines of evidence to address the fundamental questions about melatonin's cytoprotective functions after cerebral ischemia. We demonstrated that melatonin assisted post-ischemic neuro-restoration and micro-vascularization. In addition, it restricted glial scar formation, which interferes with neuronal interactions and stands as a barrier against plasticity. Even more interestingly, axonal plasticity, which was studied on the pyramidal tract using an anterograde tract tracer, proved the role of melatonin in remodeling across the injury site. In addition, plasticity-associated membrane-localized proteins, ephrin b1, ephrin b2, brevican, and versican were also modulated by melatonin. These findings suggested that melatonin orchestrated neurological recovery which was accompanied by molecular alterations resulting in cellular and extracellular structural changes. Based on the molecular signatures, ipsilesional and contralesional brain tissues were finely tuned by melatonin to compensate the loss after ischemia. Accordingly, neurological improvements correlated with the brain's molecular changes over time. It was suggested that melatonin enabled neuronal recovery by regulating neurogenesis and neuroplasticity in long term.

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EFNB1

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