MOGS (Mannosyl-Oligosaccharide Glucosidase)

This consensus effort and the resulting document represent a comprehensive evaluation of the available evidence regarding the role of medical oncologists within MOGs and DTCPs. The objective is to propose standardized criteria for the optimal management of cancer patients (pts) across all phases of care from initial diagnosis and staging to treatment, follow-up, and end-of-life support.

COASY, FTSJ1 and MOGS have emerged as critical biomarkers in LUAD, potentially influencing tumorigenesis through mitophagy-related mechanisms and immune modulation. These findings provide promising avenues for future research into targeted therapies and diagnostic tools, thereby enhancing LUAD management.

Consequently, the constructed biosensor achieved ultrasensitive detection of miR-221 with a detection limit of 2.19 aM, which was lower than reported works. This work provided new insight into broadening the development and improving the performance of MOGs as emitters, holding promise for applications in trace detection of biomarkers and early disease diagnosis.

In addition, combined with the improved rolling circle amplification-assisted strand displacement amplification strategy (RCA-SDA), a sensitive biosensor was constructed for the sensitive detection of miR-221 with a low detection limit of 5.12 aM and could be successfully applied for the detection of miR-221 in the lysate of cancer cells. This strategy offered a unique approach to synthesizing metal-organic gels as ECL emitters without a coreactant for the construction of ECL biosensing platforms in biomarker detection and disease diagnosis.

Additionally, the biosensor can be self-regenerated by the folding/unfolding of related triplets with pH changes to simplify experimental operations and reduce the cost. Hence, this work proposed novel MOGs with stable and intense ECL signals for the construction of a renewable ECL biosensor, supplying a reliable detection method in biomarker analysis and disease diagnosis.

In summary, our findings highlight the critical role of MOGS in fostering stemness and activating the NOTCH pathway in colorectal cancer cells. Disrupting the function of the MOGS/NOTCH could represent a feasible therapeutic strategy for CRC management.

In vulvar melanoma, cyclin dependent kinase inhibitor 1A (CDKN1A) was downregulated, was the validated target of 22 upregulated miRs, and had a significant inverse Pearson correlation with miR-503-5p, miR-130a-3p, and miR-20a-5p (0.005 < p < 0.026). These findings support microRNAs as mediators of gene expression in MOGS.

Classification of genes curated by the Antibody Deficiencies GCEP (AD-GCEP) Gene Disease MOI Classification AICDA Hyper-IgM syndrome type 2 (AID deficiency) AR Definitive ATM Ataxia telangiectasia (AT) AR Definitive BLNK Agammaglobulinemia 4, autosomal recessive (BLNK-associated agammaglobulinemia) AR Definitive BTK Bruton-type agammaglobulinemia (X-linked agammaglobulinemia) XLR Definitive BTK Isolated growth hormone deficiency type III XLR Disputed CARD11 BENTA (B cell expansion with NFκB and T cell anergy) disease AD Definitive CARD11 Severe combined immunodeficiency due to CARD11 deficiency AR Definitive CARD11 Immunodeficiency 11b with atopic dermatitis (CARD11 + atopic dermatitis) AD Definitive CD19 Immunodeficiency, common variable, 3 (CD19 deficiency) AR Definitive CD79A Agammaglobulinemia 3, autosomal recessive (Ig-alpha deficiency) AR Definitive CD79B Agammaglobulinemia 6, autosomal recessive (Ig-beta deficiency) AR Definitive CR2 Immunodeficiency, common variable, 7 (CD21 deficiency) AR Definitive CTLA4 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency (CHAI) AD Definitive IGHM Autosomal recessive agammaglobulinemia 1 (Mu-heavy chain deficiency) AR Definitive IKZF1 Pancytopenia due to IKZF1 mutations; IKAROS deficiency AD Definitive IKZF1 Autoimmune disease, IKAROS defect AD Moderate LRBA Combined immunodeficiency due to LRBA deficiency; LATAIE AR Definitive NFKB1 Immunodeficiency, common variable, 12 (NFkB1 deficiency) AD Definitive NFKB2 Immunodeficiency, common variable, 10 (NFkB2 deficiency, DAVID syndrome) AD Definitive PIK3CD Immunodeficiency 14b, autosomal recessive AR Definitive PIK3CD Immunodeficiency 14 (APDS type 1; activated p110-delta syndrome, PASLI disease) AD Definitive PIK3R1 Immunodeficiency 36 (APDS type 2; gain-of-function disease in PI3K regulatory subunits) AD Definitive PIK3R1 Agammaglobulinemia 7, autosomal recessive (p85alpha subunit defect) AR Limited TNFRSF13B Immunodeficiency, common variable, 2 (TACI deficiency) AR Definitive CD40 Hyper-IgM syndrome type 3 (MONDO:0011735), CD40 deficiency AR Definitive TCF3 Autosomal agammaglobulinemia (MONDO:0011096)/(agammaglobulinemia 8B)/AD (agammaglobulinemia 8A) AR Definitive TRNT1 SIFD (sideroblastic anemia, B cell immunodeficiency, periodic fevers and developmental delay) retinitis pigmentosa with erythrocytic microcytosis AR Definitive ICOS Common variable immunodeficiency, ICOS deficiency AR Definitive IL21R Immunodeficiency 56, IL-21R deficiency AR Definitive FNIP1 FNIP1-associated syndrome, FNIP1 deficiency AR Strong SPI1 Agammaglobulinemia 10, PU.1 deficiency AD Strong IGLL1 Agammaglobulinemia 2, autosomal recessive, Ig light chain deficiency (lambda-like) AR Moderate RAC2 Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Rac2 deficiency (loss-of-function, LOF) and Rac2 gain-of-function (GOF) AD Strong RAC2 I mmunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, Rac2 deficiency (loss-of-function, LOF) and Rac2 gain-of-function (GOF) AR Moderate RAC2 Neutrophil immunodeficiency syndrome, Rac2 deficiency (loss-of-function, LOF) and Rac2 gain-of-function (GOF) AD Moderate SEC61A1 SEC61A1 deficiency, plasma cell deficiency AD Moderate SLC39A7 Agammaglobulinemia 9, ZIP7 deficiency AR Moderate TOP2B B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, Hoffman syndrome AD Moderate UNG Hyper-IgM syndrome type 5, UNG deficiency AR Moderate ARHGEF1 Immunodeficiency 62, ARHGEF1 deficiency AR Limited CD81 Immunodeficiency, common variable, 6, CD81 deficiency AR Limited CTNNBL1 Common variable immunodeficiency, immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias AR Limited IGKC Recurrent infections associated with rare immunoglobulin isotypes deficiency, Ig kappa light chain deficiency AR Limited IRF2BP2 Immunodeficiency, common variable, 14, IRF2BP2 deficiency AD Limited MS4A1 Immunodeficiency, common variable, 5, CD20 deficiency AR Limited POU2AF1 Agammaglobulinemia, Bob1 deficiency AR Limited SH3KBP1 Immunodeficiency 61, CIN85 deficiency XLR Limited TNFRSF13C Immunodeficiency, common variable, 4, BAFF-R deficiency AR Limited TNFSF12 Common variable immunodeficiency, TWEAK deficiency AD Limited TNFSF13 Common variable immunodeficiency, APRIL deficiency AR Limited IL21 Common variable immunodeficiency 11, IL-21 deficiency AR Limited INO80 immunodeficiency, common variable, 1, INO80 deficiency AR Disputed AR: autosomal recessive; AD: autosomal dominant; XLR: X-linked recessive Table 3 . Genes associated with antibody deficiencies curated in collaboration with other GCEPs Gene Disease Inheritance Collaborating GCEP Classification MOGS MOGS-congenital disorder of glycosylation AR General Inborn Errors of Metabolism GCEP Definitive ATP6AP1 Congenital disorder of glycosylation type II XLR General Inborn Errors of Metabolism GCEP Limited CD40L X-linked Hyper IgM syndrome XLR SCID-CID Definitive KMT2A Wiedemann-Steiner syndrome AD Syndromic Disorders GCEP Definitive MSH6 mismatch repair cancer syndrome 1 AR Hereditary Cancer GCEP Definitive GATA2 Mono-MAC syndrome, Familial myeloid leukemia, DCML deficiency, GATA2 haploinsufficiency AD Hereditary Cancer Definitive PMS2 Mismatch repair cancer syndrome 1 AR Hereditary Cancer Definitive BLK Monogenic diabetes AD Monogenic Diabetes Refuted BRWD1 Primary Ciliary Dyskinesia (PCD) AR Motile Ciliopathy Refuted BRWD1 Agammaglobulinemia, B cell deficiency AD Transferred to AD-GCEP Limited