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243 related items for PubMed ID: 15266303

  • 1. Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.
    Donner K, Sandbacka M, Lehtokari VL, Wallgren-Pettersson C, Pelin K.
    Eur J Hum Genet; 2004 Sep; 12(9):744-51. PubMed ID: 15266303
    [Abstract] [Full Text] [Related]

  • 2. Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128.
    Donner K, Nowak KJ, Aro M, Pelin K, Wallgren-Pettersson C.
    Genomics; 2006 Oct; 88(4):489-95. PubMed ID: 16860535
    [Abstract] [Full Text] [Related]

  • 3. Expression of distinct classes of titin isoforms in striated and smooth muscles by alternative splicing, and their conserved interaction with filamins.
    Labeit S, Lahmers S, Burkart C, Fong C, McNabb M, Witt S, Witt C, Labeit D, Granzier H.
    J Mol Biol; 2006 Sep 29; 362(4):664-81. PubMed ID: 16949617
    [Abstract] [Full Text] [Related]

  • 4. Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle.
    Mohiddin SA, Lu S, Cardoso JP, Carroll S, Jha S, Horowits R, Fananapazir L.
    Cell Motil Cytoskeleton; 2003 Jul 29; 55(3):200-12. PubMed ID: 12789664
    [Abstract] [Full Text] [Related]

  • 5. Identification of two novel 5' noncoding exons in human MNB/DYRK gene and alternatively spliced transcripts.
    Wang J, Kudoh J, Shintani A, Minoshima S, Shimizu N.
    Biochem Biophys Res Commun; 1998 Sep 29; 250(3):704-10. PubMed ID: 9784410
    [Abstract] [Full Text] [Related]

  • 6. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C, Küpper F, Schmitt CP, Vester U, Neuhaus TJ, Senderek J, Zerres K.
    J Med Genet; 2005 Oct 29; 42(10):e63. PubMed ID: 16199545
    [Abstract] [Full Text] [Related]

  • 7. Structural organization of the human complexin 2 gene (CPLX2) and aspects of its functional activity.
    Raevskaya NM, Dergunova LV, Vladychenskaya IP, Stavchansky VV, Oborina MV, Poltaraus AB, Limborska SA.
    Gene; 2005 Oct 10; 359():127-37. PubMed ID: 16162394
    [Abstract] [Full Text] [Related]

  • 8. Identification of three mouse mu-opioid receptor (MOR) gene (Oprm1) splice variants containing a newly identified alternatively spliced exon.
    Doyle GA, Rebecca Sheng X, Lin SS, Press DM, Grice DE, Buono RJ, Ferraro TN, Berrettini WH.
    Gene; 2007 Feb 15; 388(1-2):135-47. PubMed ID: 17156941
    [Abstract] [Full Text] [Related]

  • 9. Splice variant of mouse Stam2 mRNA in nervous and muscle tissue contains additional exon with stop codon within region coding for VHS domain.
    Curlin M, Lucić V, Gajović S.
    Croat Med J; 2006 Feb 15; 47(1):16-24. PubMed ID: 16489693
    [Abstract] [Full Text] [Related]

  • 10. Complete nucleotide sequence, structural organization, and an alternatively spliced exon of mouse h1-calponin gene.
    Gao J, Hwang JM, Jin JP.
    Biochem Biophys Res Commun; 1996 Jan 05; 218(1):292-7. PubMed ID: 8573148
    [Abstract] [Full Text] [Related]

  • 11. Expression of multiple nebulin isoforms in human skeletal muscle and brain.
    Laitila J, Hanif M, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K.
    Muscle Nerve; 2012 Nov 05; 46(5):730-7. PubMed ID: 22941678
    [Abstract] [Full Text] [Related]

  • 12. Revised genomic structure of the human ghrelin gene and identification of novel exons, alternative splice variants and natural antisense transcripts.
    Seim I, Collet C, Herington AC, Chopin LK.
    BMC Genomics; 2007 Aug 30; 8():298. PubMed ID: 17727735
    [Abstract] [Full Text] [Related]

  • 13. The complete mouse nebulin gene sequence and the identification of cardiac nebulin.
    Kazmierski ST, Antin PB, Witt CC, Huebner N, McElhinny AS, Labeit S, Gregorio CC.
    J Mol Biol; 2003 May 09; 328(4):835-46. PubMed ID: 12729758
    [Abstract] [Full Text] [Related]

  • 14. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
    Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C.
    Hum Mutat; 2006 Sep 09; 27(9):946-56. PubMed ID: 16917880
    [Abstract] [Full Text] [Related]

  • 15. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
    Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H.
    Brain; 2013 Jun 09; 136(Pt 6):1718-31. PubMed ID: 23715096
    [Abstract] [Full Text] [Related]

  • 16. Identification of low-abundance alternatively spliced mRNA variants by exon exclusive reverse transcriptase polymerase chain reaction.
    Wang F, Zhao Y, Hao Y, Tan Z.
    Anal Biochem; 2008 Dec 15; 383(2):307-10. PubMed ID: 18817741
    [Abstract] [Full Text] [Related]

  • 17. Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs.
    Millevoi S, Trombitas K, Kolmerer B, Kostin S, Schaper J, Pelin K, Granzier H, Labeit S.
    J Mol Biol; 1998 Sep 11; 282(1):111-23. PubMed ID: 9733644
    [Abstract] [Full Text] [Related]

  • 18. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
    Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG, ENMC International Consortium On Nemaline Myopathy.
    Neuromuscul Disord; 2004 Sep 11; 14(8-9):461-70. PubMed ID: 15336686
    [Abstract] [Full Text] [Related]

  • 19. Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array.
    Gardina PJ, Clark TA, Shimada B, Staples MK, Yang Q, Veitch J, Schweitzer A, Awad T, Sugnet C, Dee S, Davies C, Williams A, Turpaz Y.
    BMC Genomics; 2006 Dec 27; 7():325. PubMed ID: 17192196
    [Abstract] [Full Text] [Related]

  • 20. Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.
    Lam LT, Holt I, Laitila J, Hanif M, Pelin K, Wallgren-Pettersson C, Sewry CA, Morris GE.
    Sci Rep; 2018 Oct 24; 8(1):15728. PubMed ID: 30356055
    [Abstract] [Full Text] [Related]

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