CBLIF

Last update 23 Jan 2025

Basic Info

Synonyms

CBLIF, cobalamin binding intrinsic factor, Gastric intrinsic factor

+ [6]

Introduction

Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis.

100 Clinical Results associated with CBLIF

100 Translational Medicine associated with CBLIF

0 Patents (Medical) associated with CBLIF

754

Literatures (Medical) associated with CBLIF

01 Mar 2025·Clinical Biochemistry

KNG1 mutations (c.618 T > G and c.1165C > T) cause disruption of the Cys206-Cys218 disulfide bond and truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency

Article

Author: Li, Pingping ; Qi, Yunwei ; Qin, Caili ; Chen, Huaping ; Huang, Shan ; Gui, Ying ; Zhang, Fuyong ; Lv, Xiaoying

BACKGROUNDHigh molecular weight kininogen (HMWK), encoded by the kininogen-1 (KNG1) gene, is a multifunctional glycoprotein closely associated with the initiation of blood coagulation, tumor growth, and other pathological processes.OBJECTIVEWe conducted a study on the clinical phenotype, genetic mutations, and molecular pathogenesis of a female patient with uterine leiomyosarcoma, who presented with HMWK deficiency and an isolated prolonged activated partial thromboplastin time (APTT).METHODSClinical phenotyping was conducted through APTT mixing studies, quantitative assessments of intrinsic coagulation factor activities, antigen levels of HMWK, and thromboelastography. Genetic analysis revealed a novel mutation within the KNG1 gene. Subsequent bioinformatics analysis focused on the evolutionary conservation of regions flanking codons 618 and 1165 of the KNG1 gene, with an aim of predicting the mutation's functional impact.RESULTSClinical phenotypic analysis indicated a severe deficiency of HMWK antigen levels in the patient, with levels below 1.0 % of normal. Genetic sequencing identified two mutation sites in the KNG1 gene: a novel missense mutation in exon 5, c.618 T > G (p.Cys206Trp), which leads to disruption of the disulfide bond between Cys206 and Cys218, and a known nonsense mutation in exon 10, c.1165C > T (p.Arg389X), resulting in truncation of the D5 domain in the HMWK protein and reducing its quantity. These two mutations collectively impact the activation of HMWK within the coagulation system.CONCLUSIONThe compound heterozygous mutations, c.618 T > G (p.Cys206Trp) and c.1165C > T (p.Arg389X), result in a loss of HMWK function, leading to a deficiency in the kinin system and consequently a significant prolongation of the APTT. These findings advance understanding of coagulation factor deficiencies and inform diagnostic and therapeutic approaches for HMWK deficiency, potentially enhancing clinical management strategies.

01 Jan 2025·Fish & Shellfish Immunology

Plasma-derived exosomes of Edwardsiella piscicida challenged olive flounder (Paralichthys olivaceus): Characterization and miRNA profiling for potential biomarkers screening

Article

Author: Jayathilaka, E H T Thulshan ; Wasana, Withanage Prasadini ; Lee, Jehee ; De Zoysa, Mahanama ; Jayasinghe, J N C ; Jayathilaka, E.H.T.Thulshan ; Jayasinghe, J.N.C. ; Nikapitiya, Chamilani

Exosomes are released from multiple cell types as part of their normal physiology as well as during acquired abnormalities. In this study, we investigated the effect of pathogenic Edwardsiella piscicida infection on olive flounder (Paralichthys olivaceus) exosomes at morphometric, physicochemical, and molecular levels. Unique cup-shaped exosomes were isolated from the plasma of non-infected (PBS-Exo) and E. piscicida experimentally challenged (Ep-Exo) olive flounder using ultracentrifugation. The average particle size, concentration, and zeta potential were 150.9 ± 6.9 nm, 5.67 × 10¹⁰ particles/mL, and -25.6 ± 1.36 mV for PBS-Exo while 138.7 ± 1.9 nm, 1.22 × 10¹¹ particles/mL, and -35 ± 1.82 mV for Ep-Exo, respectively. Expression of tetraspanin markers (CD81, CD9, and CD63) confirmed the presence of olive flounder exosomes. Differentially expressed (DE) known (9) and novel (29) miRNAs (log₂ fold change ≥1; p < 0.05) were identified in the Ep-Exo that could be potential as diagnostic biomarkers for the infection. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses revealed that the predicted target genes of the DE miRNAs were highly enriched in metabolic and immune roles. Both PBS-Exo and Ep-Exo were non-toxic in vitro (up to 100 μg/mL) and in vivo (up to 400 μg/mL). Compared to the vehicle, PBS-Exo at 50 μg/mL induced Nf-kB (>1.50-fold) while at 100 μg/mL, Il8, Il10, Nf-kB, P53, and Inf were induced (>1.50-fold) in fathead minnow cells (FHMs). This suggests that the PBS-Exo contains molecules that moderately stimulate gene expression. In the future, validating the exact olive flounder immune response target genes that interact with DE miRNAs in Ep-Exo will be crucial for investigating the host-pathogen interactions, immune defense mechanisms, and therapeutic targets for olive flounder against E. piscicida infection.

01 Nov 2024·Journal of Craniofacial Surgery

IGF1 and CXCR4 Respectively Related With Inhibited M1 Macrophage Polarization in Keloids

Article

Author: Han, Bing ; Ji, Dongshuo ; Liu, Ying ; Tan, Liuchang ; Chen, Xiaofang

Purpose:The pathophysiology of keloid remains unclear. Exploring the immune heterogeneity and new biomarkers of keloids can help design new therapeutic targets for keloid treatments and prevention.Methods:The authors performed single-cell RNA sequencing analysis and bulk data differential gene expression analysis of public datasets(GSE92566 and GSE163973). They used Gene Ontology (GO), Gene Set Enrichment Analysis (GSEA), and immune infiltration analysis to identify the function of the differential expressed genes. Besides, the authors performed qt-PCR on keloid tissue and adjacent normal tissues from 3 patients for further verification.Results:M2 macrophage increased in keloid samples than M1 macrophage. The authors identified 2 potential novel biomarkers of keloid, IGF1 and CXCR4, which could inhibit M1 macrophage polarization. The potential mechanism could be inhibiting immune responses and anti-inflammatory activities through INF signaling and E2F targeting. The differential expression of the 2 genes was verified by clinical samples.Conclusions:The authors identified 2 immune signaling molecules associated with keloid formation (IGF1 and CXCR4) and analyzed their potential pathogenic mechanisms.

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