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    IMPDH1 inosine monophosphate dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 3614, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The Impact of Terminal Peptide Extensions of Retinal Inosine 5 Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding Activities.

    The Impact of Terminal Peptide Extensions of Retinal Inosine 5´Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding Activities.
    Nabi Afjadi M, Yazdanparast R, Barzegari E.

    09/30/2024
    Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.

    Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.
    Wang J, Wang Y, Jiang Y, Li S, Jia X, Xiao X, Sun W, Wang P, Zhang Q.

    08/15/2024
    IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.

    IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
    Sakti DH, Cornish EE, Nash BM, Jamieson RV, Grigg JR.

    09/22/2023
    c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.

    c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.
    Zhang Q, Cui K, Yang X, He Q, Yu J, Yang L, Yao G, Guo W, Luo Z, Liu Y, Chen Y, He Z, Lan P., Free PMC Article

    02/11/2023
    IMPDH1, a prognostic biomarker and immunotherapy target that correlates with tumor immune microenvironment in pan-cancer and hepatocellular carcinoma.

    IMPDH1, a prognostic biomarker and immunotherapy target that correlates with tumor immune microenvironment in pan-cancer and hepatocellular carcinoma.
    Liu C, Zhang W, Zhou X, Liu L., Free PMC Article

    01/14/2023
    MYBL2 regulates de novo purine synthesis by transcriptionally activating IMPDH1 in hepatocellular carcinoma cells.

    MYBL2 regulates de novo purine synthesis by transcriptionally activating IMPDH1 in hepatocellular carcinoma cells.
    Zhao JZ, Wang W, Liu T, Zhang L, Lin DZ, Yao JY, Peng X, Jin G, Ma TT, Gao JB, Huang F, Nie J, Lv Q., Free PMC Article

    12/31/2022
    Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma.

    Inosine monophosphate dehydrogenase type1 sustains tumor growth in hepatocellular carcinoma.
    Jia X, Liu Y, Cheng Y, Wang Y, Kang H, Ma Z, Chen K., Free PMC Article

    05/21/2022
    Inosine 5'-Monophosphate Dehydrogenase Cytoophidia Neighbor Insulin Granules in Pancreatic beta Cells.

    Inosine 5'-Monophosphate Dehydrogenase Cytoophidia Neighbor Insulin Granules in Pancreatic β Cells.
    Zhou XL, Chang CC, Liu JL.

    03/26/2022
    IMPDH1 retinal variants control filament architecture to tune allosteric regulation.

    IMPDH1 retinal variants control filament architecture to tune allosteric regulation.
    Burrell AL, Nie C, Said M, Simonet JC, Fernández-Justel D, Johnson MC, Quispe J, Buey RM, Peterson JR, Kollman JM., Free PMC Article

    02/26/2022
    Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1).

    Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1).
    Bennett LD, Klein M, John FT, Radojevic B, Jones K, Birch DG., Free PMC Article

    07/10/2021
    IMPDH1/YB-1 Positive Feedback Loop Assembles Cytoophidia and Represents a Therapeutic Target in Metastatic Tumors.

    IMPDH1/YB-1 Positive Feedback Loop Assembles Cytoophidia and Represents a Therapeutic Target in Metastatic Tumors.
    Ruan H, Song Z, Cao Q, Ni D, Xu T, Wang K, Bao L, Tong J, Xiao H, Xiao W, Cheng G, Xiong Z, Liang H, Liu D, Wang L, Olivier T, Jane BH, Yang H, Zhang X, Chen K., Free PMC Article

    06/12/2021
    IMP dehydrogenase rod/ring structures in acral melanomas.

    IMP dehydrogenase rod/ring structures in acral melanomas.
    Keppeke GD, Barcelos D, Fernandes M, Comodo AN, Guimarães DP, Cardili L, Carapeto FCL, Andrade LEC, Landman G.

    02/6/2021
    We have found that the rs2278294 G allele exerts statistically significant inhibition on post-kidney transplant body mass index gain

    Malnutrition Risk in Kidney Recipients Treated With Mycophenolate Mofetil Is Associated With IMPDH1 rs2278294 Polymorphism.
    Pazik J, Lewandowski Z, Nowacka Cieciura E, Ołdak M, Podgórska M, Sadowska A, Dęborska Materkowska D, Durlik M.

    11/3/2018
    In our cohort of >300 familial cases of autosomal-recessive retinitis pigmentosa, PKRP004 is the only family harboring a mutation in IMPDH1.

    Phenotypic variability associated with the D226N allele of IMPDH1.
    Ali S, Khan SY, Naeem MA, Khan SN, Husnain T, Riazuddin S, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA.

    04/18/2015
    Expression of IMPDH mRNA after mycophenolate administration in male volunteers.

    Expression of IMPDH mRNA after mycophenolate administration in male volunteers.
    Kim S, Lee W, Chun S, Um TH, Min WK., Free PMC Article

    04/11/2015
    A novel mutation, p.L270R in IMPDH1, was found to be retinitis pigmentosa-causing in one family.

    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
    Borràs E, de Sousa Dias M, Hernan I, Pascual B, Mañé B, Gamundi MJ, Delás B, Carballo M.

    06/7/2014
    p53 has a novel function in regulating purine biosynthesis, aided by miR-34a-dependent IMPDH repression.

    A p53-inducible microRNA-34a downregulates Ras signaling by targeting IMPDH.
    Kim HR, Roe JS, Lee JE, Hwang IY, Cho EJ, Youn HD.

    04/21/2012
    IMPDH has a function in the retina, apparently independent of its enzymatic activity, mediated by retina-specific variants.

    Towards a pathological mechanism for IMPDH1-linked retinitis pigmentosa.
    McGrew DA, Hedstrom L.

    04/14/2012
    IMPDH1 mutation is associated with retinitis pigmentosa.

    Molecular recruitment as a basis for negative dominant inheritance? propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa.
    Wang XT, Mion B, Aherne A, Engel PC.

    12/3/2011
    The mutation frequency of IMPDH1 gene of the Han population in Ganzhou city was similar as approximately 2-5% of the autosomal dominant retinitis pigmentosa cases among Americans of European origin and Europeans.

    Mutation frequency of IMPDH1 gene of Han population in Ganzhou City.
    Shumei L, Xiaoting L, Xiangyun Z, Liqun H, Liang X, Sisi L.

    09/17/2011
    resequenced IMPDH1 and IMPDH2 using DNA from 288 individuals from three ethnic groups and performed functional genomic studies of the sequence variants observed; identified 73 single nucleotide polymorphisms in IMPDH1, 59 novel

    Pharmacogenetics of the mycophenolic acid targets inosine monophosphate dehydrogenases IMPDH1 and IMPDH2: gene sequence variation and functional genomics.
    Wu TY, Peng Y, Pelleymounter LL, Moon I, Eckloff BW, Wieben ED, Yee VC, Weinshilboum RM., Free PMC Article

    05/21/2011
    Potential associations between the most frequent single nucleotide polymorphisms in both IMPDH genes and clinical outcome in renal transplant recipients.

    Polymorphisms in type I and II inosine monophosphate dehydrogenase genes and association with clinical outcome in patients on mycophenolate mofetil.
    Gensburger O, Van Schaik RH, Picard N, Le Meur Y, Rousseau A, Woillard JB, Van Gelder T, Marquet P., Free PMC Article

    03/19/2011
    Inosine 5'-monophosphate dehydrogenase 1 haplotypes have a role in mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients

    Inosine 5'-monophosphate dehydrogenase 1 haplotypes and association with mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients.
    Ohmann EL, Burckart GJ, Chen Y, Pravica V, Brooks MM, Zeevi A, Webber SA., Free PMC Article

    02/5/2011
    Observational study of genetic testing. (HuGE Navigator)

    Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
    Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ.

    12/5/2010
    The risk of subclinical acute rejection for recipients who cannot adapt in therapeutic drug monitoring of mycophenolic acid seems to be influenced by IMPDH1 rs2278293 polymorphism.

    Correlation of IMPDH1 gene polymorphisms with subclinical acute rejection and mycophenolic acid exposure parameters on day 28 after renal transplantation.
    Kagaya H, Miura M, Saito M, Habuchi T, Satoh S.

    11/6/2010
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