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Journal Abstract Search

143 related items for PubMed ID: 15042702

  • 1. Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism.
    Hime GR, Lada H, Fietz MJ, Gillies S, Passmore A, Wicking C, Wainwright BJ.
    Dev Dyn; 2004 Apr; 229(4):780-90. PubMed ID: 15042702
    [Abstract] [Full Text] [Related]

  • 2. Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.
    Fujii K, Kohno Y, Sugita K, Nakamura M, Moroi Y, Urabe K, Furue M, Yamada M, Miyashita T.
    Hum Mutat; 2003 Apr; 21(4):451-2. PubMed ID: 12655573
    [Abstract] [Full Text] [Related]

  • 3. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
    Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G.
    Hum Mutat; 2005 Mar; 25(3):322-3. PubMed ID: 15712338
    [Abstract] [Full Text] [Related]

  • 4. Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.
    Unden AB, Holmberg E, Lundh-Rozell B, Stähle-Bäckdahl M, Zaphiropoulos PG, Toftgård R, Vorechovsky I.
    Cancer Res; 1996 Oct 15; 56(20):4562-5. PubMed ID: 8840960
    [Abstract] [Full Text] [Related]

  • 5. Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
    Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP.
    Science; 1996 Jun 14; 272(5268):1668-71. PubMed ID: 8658145
    [Abstract] [Full Text] [Related]

  • 6. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
    Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G.
    Am J Hum Genet; 1997 Jan 14; 60(1):21-6. PubMed ID: 8981943
    [Abstract] [Full Text] [Related]

  • 7. PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
    Sun LS, Li XF, Li TJ.
    J Dent Res; 2008 Jun 14; 87(6):575-9. PubMed ID: 18502968
    [Abstract] [Full Text] [Related]

  • 8. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
    Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE.
    Cell; 1996 Jun 14; 85(6):841-51. PubMed ID: 8681379
    [Abstract] [Full Text] [Related]

  • 9. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas.
    Gailani MR, Ståhle-Bäckdahl M, Leffell DJ, Glynn M, Zaphiropoulos PG, Pressman C, Undén AB, Dean M, Brash DE, Bale AE, Toftgård R.
    Nat Genet; 1996 Sep 14; 14(1):78-81. PubMed ID: 8782823
    [Abstract] [Full Text] [Related]

  • 10. Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
    Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T.
    Fam Cancer; 2013 Dec 14; 12(4):611-4. PubMed ID: 23479190
    [Abstract] [Full Text] [Related]

  • 11. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
    Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M.
    Cancer Res; 1996 Oct 15; 56(20):4599-601. PubMed ID: 8840969
    [Abstract] [Full Text] [Related]

  • 12. Mutations in the sterol-sensing domain of Patched suggest a role for vesicular trafficking in Smoothened regulation.
    Strutt H, Thomas C, Nakano Y, Stark D, Neave B, Taylor AM, Ingham PW.
    Curr Biol; 2001 Apr 17; 11(8):608-13. PubMed ID: 11369206
    [Abstract] [Full Text] [Related]

  • 13. Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine.
    Taipale J, Chen JK, Cooper MK, Wang B, Mann RK, Milenkovic L, Scott MP, Beachy PA.
    Nature; 2000 Aug 31; 406(6799):1005-9. PubMed ID: 10984056
    [Abstract] [Full Text] [Related]

  • 14. PTCH gene mutations in odontogenic keratocysts.
    Barreto DC, Gomez RS, Bale AE, Boson WL, De Marco L.
    J Dent Res; 2000 Jun 31; 79(6):1418-22. PubMed ID: 10890722
    [Abstract] [Full Text] [Related]

  • 15. Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online.
    Hasenpusch-Theil K, Bataille V, Laehdetie J, Obermayr F, Sampson JR, Frischauf AM.
    Hum Mutat; 1998 Jun 31; 11(6):480. PubMed ID: 10200051
    [Abstract] [Full Text] [Related]

  • 16. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
    Minami M, Urano Y, Ishigami T, Tsuda H, Kusaka J, Arase S.
    J Dermatol Sci; 2001 Sep 31; 27(1):21-6. PubMed ID: 11457640
    [Abstract] [Full Text] [Related]

  • 17. DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
    Marsh A, Wicking C, Wainwright B, Chenevix-Trench G.
    Hum Mutat; 2005 Sep 31; 26(3):283. PubMed ID: 16088933
    [Abstract] [Full Text] [Related]

  • 18. The sterol-sensing domain of Patched protein seems to control Smoothened activity through Patched vesicular trafficking.
    Martín V, Carrillo G, Torroja C, Guerrero I.
    Curr Biol; 2001 Apr 17; 11(8):601-7. PubMed ID: 11369205
    [Abstract] [Full Text] [Related]

  • 19. A large complex containing Patched and Smoothened initiates Hedgehog signaling in Drosophila.
    Walthall SL, Moses M, Horabin JI.
    J Cell Sci; 2007 Mar 01; 120(Pt 5):826-37. PubMed ID: 17284519
    [Abstract] [Full Text] [Related]

  • 20. Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.
    Fujii M, Noguchi K, Urade M, Muraki Y, Moridera K, Kishimoto H, Hashimoto-Tamaoki T, Nakano Y.
    J Hum Genet; 2011 Apr 01; 56(4):277-83. PubMed ID: 21368767
    [Abstract] [Full Text] [Related]

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