BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 16378742)

  • 1. A structure-function study of MID1 mutations associated with a mild Opitz phenotype.
    Mnayer L; Khuri S; Merheby HA; Meroni G; Elsas LJ
    Mol Genet Metab; 2006 Mar; 87(3):198-203. PubMed ID: 16378742
    [TBL] [Abstract][Full Text] [Related]  

  • 2. FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules.
    Perry J; Short KM; Romer JT; Swift S; Cox TC; Ashworth A
    Genomics; 1999 Dec; 62(3):385-94. PubMed ID: 10644436
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
    So J; Suckow V; Kijas Z; Kalscheuer V; Moser B; Winter J; Baars M; Firth H; Lunt P; Hamel B; Meinecke P; Moraine C; Odent S; Schinzel A; van der Smagt JJ; Devriendt K; Albrecht B; Gillessen-Kaesbach G; van der Burgt I; Petrij F; Faivre L; McGaughran J; McKenzie F; Opitz JM; Cox T; Schweiger S
    Am J Med Genet A; 2005 Jan; 132A(1):1-7. PubMed ID: 15558842
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Opitz syndrome gene product, MID1, associates with microtubules.
    Schweiger S; Foerster J; Lehmann T; Suckow V; Muller YA; Walter G; Davies T; Porter H; van Bokhoven H; Lunt PW; Traub P; Ropers HH
    Proc Natl Acad Sci U S A; 1999 Mar; 96(6):2794-9. PubMed ID: 10077590
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.
    Wright KM; Du H; Massiah MA
    FEBS J; 2017 Jul; 284(14):2183-2193. PubMed ID: 28548391
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.
    Migliore C; Athanasakis E; Dahoun S; Wonkam A; Lees M; Calabrese O; Connell F; Lynch SA; Izzi C; Pompilii E; Thakur S; van Maarle M; Wilson LC; Meroni G
    Eur J Med Genet; 2013 Aug; 56(8):404-10. PubMed ID: 23791568
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules.
    Berti C; Fontanella B; Ferrentino R; Meroni G
    BMC Cell Biol; 2004 Feb; 5():9. PubMed ID: 15070402
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome.
    Hüning I; Kutsche K; Rajaei S; Erlandsson A; Lovmar L; Rundberg J; Stefanova M
    Eur J Med Genet; 2013 Apr; 56(4):188-91. PubMed ID: 23354372
    [TBL] [Abstract][Full Text] [Related]  

  • 9. MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.
    Du H; Wu K; Didoronkute A; Levy MV; Todi N; Shchelokova A; Massiah MA
    PLoS One; 2014; 9(9):e107428. PubMed ID: 25207814
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
    Ferrentino R; Bassi MT; Chitayat D; Tabolacci E; Meroni G
    Hum Mutat; 2007 Feb; 28(2):206-7. PubMed ID: 17221865
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome.
    Ji X; Xing Y; Xu Y; Liu Y; Chen Y; Tao J; Xiao B
    Gene; 2014 Mar; 537(1):140-2. PubMed ID: 24374473
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
    Kruszka P; Li D; Harr MH; Wilson NR; Swarr D; McCormick EM; Chiavacci RM; Li M; Martinez AF; Hart RA; McDonald-McGinn DM; Deardorff MA; Falk MJ; Allanson JE; Hudson C; Johnson JP; Saadi I; Hakonarson H; Muenke M; Zackai EH
    J Med Genet; 2015 Feb; 52(2):104-10. PubMed ID: 25412741
    [TBL] [Abstract][Full Text] [Related]  

  • 13. XLOS-observed mutations of MID1 Bbox1 domain cause domain unfolding.
    Wright KM; Wu K; Babatunde O; Du H; Massiah MA
    PLoS One; 2014; 9(9):e107537. PubMed ID: 25216264
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
    Fontanella B; Russolillo G; Meroni G
    Hum Mutat; 2008 May; 29(5):584-94. PubMed ID: 18360914
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.
    Hu CH; Liu YF; Yu JS; Ng YY; Chen SJ; Su PH; Chen JY
    Am J Med Genet A; 2012 Apr; 158A(4):726-31. PubMed ID: 22407675
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold.
    Massiah MA; Matts JA; Short KM; Simmons BN; Singireddy S; Yi Z; Cox TC
    J Mol Biol; 2007 May; 369(1):1-10. PubMed ID: 17428496
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
    Hsieh EW; Vargervik K; Slavotinek AM
    Am J Med Genet A; 2008 Sep; 146A(18):2337-45. PubMed ID: 18697196
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The E3 ubiquitin ligase MID1/TRIM18 promotes atypical ubiquitination of the BRCA2-associated factor 35, BRAF35.
    Zanchetta ME; Napolitano LMR; Maddalo D; Meroni G
    Biochim Biophys Acta Mol Cell Res; 2017 Oct; 1864(10):1844-1854. PubMed ID: 28760657
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
    Quaderi NA; Schweiger S; Gaudenz K; Franco B; Rugarli EI; Berger W; Feldman GJ; Volta M; Andolfi G; Gilgenkrantz S; Marion RW; Hennekam RC; Opitz JM; Muenke M; Ropers HH; Ballabio A
    Nat Genet; 1997 Nov; 17(3):285-91. PubMed ID: 9354791
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A.
    Aranda-Orgillés B; Aigner J; Kunath M; Lurz R; Schneider R; Schweiger S
    PLoS One; 2008; 3(10):e3507. PubMed ID: 18949047
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.