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    MMEL1 membrane metalloendopeptidase like 1 [ Homo sapiens (human) ]

    Gene ID: 79258, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population.

    Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population.
    Yazdanpanah M, Jalilian N, Abdollah Zadeh R, Sahraian MA, Noori-Daloii MR.

    09/24/2022
    the dynamic behavior of human NEP and NEP2 proteins was monitored by conducting molecular dynamics (MD) simulations.

    In silico based investigation of dynamic variations in neprilysin (NEP and NEP2) proteins for extracting the point of specificity.
    Ul-Haq Z, Usmani S, Iqbal S, Zia SR.

    12/17/2016
    MMEL1 518 Met/Thr polymorphism contributes to celiac disease risk among Saudi Arabians, both in single and also in synergistic cooperation with SH2B3 gene marker.

    Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.
    Saadah OI, Shaik NA, Banaganapalli B, Salama MA, Al-Harthi SE, Wang J, Shawoosh HA, Alghamdi SA, Bin-Taleb YY, Alhussaini BH, Elango R, Al-Aama JY., Free PMC Article

    09/10/2016
    Te results of this study suggested taht genetic variations in MMEL1, ECE1, ECE2, AGER, PLG, PLAT, NR1H3, MMP3, LRP1, TTR, NR1H2, and MMP9 genes do not play major role among the Finnish AD patient cohort.

    Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease.
    Natunen T, Helisalmi S, Vepsäläinen S, Sarajärvi T, Antikainen L, Mäkinen P, Herukka SK, Koivisto AM, Haapasalo A, Soininen H, Hiltunen M.

    06/16/2012
    The NEP2 expression and activity are altered in MCI is significant as these changes may potentially serve as preclinical markers for AD and reduced NEP2 activity may be associated with the development of Alzheimer's disease.

    Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease.
    Huang JY, Hafez DM, James BD, Bennett DA, Marr RA., Free PMC Article

    05/26/2012
    This study identifies MMEL1 and CTLA4 as RA susceptibility genes, in Han Chinese popilation.

    Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.
    Danoy P, Wei M, Johanna H, Jiang L, He D, Sun L, Zeng X, Visscher PM, Brown MA, Xu H.

    11/12/2011
    A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 in multiple sclerosis susceptibility.

    A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.
    Ban M, McCauley JL, Zuvich R, Baker A, Bergamaschi L, Cox M, Kemppinen A, D'Alfonso S, Guerini FR, Lechner-Scott J, Dudbridge F, Wason J, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, Sexton D, Oksenberg JR, Hauser SL, Pericak-Vance MA, Haines J, Compston A, Sawcer S., Free PMC Article

    06/18/2011
    Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)

    Genetic variants in the prediction of rheumatoid arthritis.
    van der Helm-van Mil AH, Toes RE, Huizinga TW.

    06/30/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
    Hirschfield GM, Liu X, Han Y, Gorlov IP, Lu Y, Xu C, Lu Y, Chen W, Juran BD, Coltescu C, Mason AL, Milkiewicz P, Myers RP, Odin JA, Luketic VA, Speiciene D, Vincent C, Levy C, Gregersen PK, Zhang J, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA.

    Multiple common variants for celiac disease influencing immune gene expression.
    Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GA, Adány R, Aromaa A, Bardella MT, van den Berg LH, Bockett NA, de la Concha EG, Dema B, Fehrmann RS, Fernández-Arquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwen RH, Hunt SE, Kaukinen K, Kelleher D, Korponay-Szabo I, Kurppa K, MacMathuna P, Mäki M, Mazzilli MC, McCann OT, Mearin ML, Mein CA, Mirza MM, Mistry V, Mora B, Morley KI, Mulder CJ, Murray JA, Núñez C, Oosterom E, Ophoff RA, Polanco I, Peltonen L, Platteel M, Rybak A, Salomaa V, Schweizer JJ, Sperandeo MP, Tack GJ, Turner G, Veldink JH, Verbeek WH, Weersma RK, Wolters VM, Urcelay E, Cukrowska B, Greco L, Neuhausen SL, McManus R, Barisani D, Deloukas P, Barrett JC, Saavalainen P, Wijmenga C, van Heel DA.

    04/7/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (3) articles

    Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
    Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC.

    A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis.
    Wieczorek S, Holle JU, Müller S, Fricke H, Gross WL, Epplen JT.

    Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.
    Hinks A, Eyre S, Ke X, Barton A, Martin P, Flynn E, Packham J, Childhood Arthritis Prospective Study (CAPS), UKRAG Consortium, BSPAR Study Group, Worthington J, Thomson W.

    01/20/2010
    Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)

    Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
    Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, Gianniny L, Korman BD, Padyukov L, Kurreeman FA, Chang M, Catanese JJ, Ding B, Wong S, van der Helm-van Mil AH, Neale BM, Coblyn J, Cui J, Tak PP, Wolbink GJ, Crusius JB, van der Horst-Bruinsma IE, Criswell LA, Amos CI, Seldin MF, Kastner DL, Ardlie KG, Alfredsson L, Costenbader KH, Altshuler D, Huizinga TW, Shadick NA, Weinblatt ME, de Vries N, Worthington J, Seielstad M, Toes RE, Karlson EW, Begovich AB, Klareskog L, Gregersen PK, Daly MJ, Plenge RM., Free PMC Article

    12/2/2009
    NEP2 substrate specificity and inhibitor binding was distinct from that of human NEP, suggesting that NEP and NEP2 play distinct physiological roles in humans.

    Human neprilysin-2 (NEP2) and NEP display distinct subcellular localisations and substrate preferences.
    Whyteside AR, Turner AJ.

    01/21/2010
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