BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 12551913)

  • 1. Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
    Miné M; Brivet M; Touati G; Grabowski P; Abitbol M; Marsac C
    J Biol Chem; 2003 Apr; 278(14):11768-72. PubMed ID: 12551913
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
    Gabut M; Miné M; Marsac C; Brivet M; Tazi J; Soret J
    Mol Cell Biol; 2005 Apr; 25(8):3286-94. PubMed ID: 15798212
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.
    Vetrini F; Tammaro R; Bondanza S; Surace EM; Auricchio A; De Luca M; Ballabio A; Marigo V
    Hum Mutat; 2006 May; 27(5):420-6. PubMed ID: 16550551
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
    Cardozo AK; De Meirleir L; Liebaers I; Lissens W
    Pediatr Res; 2000 Dec; 48(6):748-53. PubMed ID: 11102541
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.
    Boichard A; Venet L; Naas T; Boutron A; Chevret L; de Baulny HO; De Lonlay P; Legrand A; Nordman P; Brivet M
    Mol Genet Metab; 2008 Mar; 93(3):323-30. PubMed ID: 18023225
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
    Ridout CK; Keighley P; Krywawych S; Brown RM; Brown GK
    Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273899
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
    Fujimaru M; Tanaka A; Choeh K; Wakamatsu N; Sakuraba H; Isshiki G
    Hum Genet; 1998 Oct; 103(4):462-9. PubMed ID: 9856491
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.
    Olsson A; Lind L; Thornell LE; Holmberg M
    Hum Mol Genet; 2008 Jun; 17(11):1666-72. PubMed ID: 18296749
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.
    Arrisi-Mercado P; Romano M; Muro AF; Baralle FE
    J Biol Chem; 2004 Sep; 279(38):39331-9. PubMed ID: 15247216
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].
    Blanco-Barca O; Gomez-Lado C; Rodrigo-Saez E; Curros-Novos C; Briones-Godino P; Eiris-Punal J; Castro-Gago M
    Rev Neurol; 2006 Sep 16-30; 43(6):341-5. PubMed ID: 16981164
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Activation of cryptic splice sites in three patients with chronic granulomatous disease.
    de Boer M; van Leeuwen K; Hauri-Hohl M; Roos D
    Mol Genet Genomic Med; 2019 Sep; 7(9):e854. PubMed ID: 31364312
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.
    Okajima K; Warman ML; Byrne LC; Kerr DS
    Mol Genet Metab; 2006 Feb; 87(2):162-8. PubMed ID: 16412675
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
    Homolova K; Zavadakova P; Doktor TK; Schroeder LD; Kozich V; Andresen BS
    Hum Mutat; 2010 Apr; 31(4):437-44. PubMed ID: 20120036
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
    Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
    Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Nakamura K; Fukao T; Perez-Cerda C; Luque C; Song XQ; Naiki Y; Kohno Y; Ugarte M; Kondo N
    Mol Genet Metab; 2001 Feb; 72(2):115-21. PubMed ID: 11161837
    [TBL] [Abstract][Full Text] [Related]  

  • 16. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
    J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site.
    Yadegari H; Biswas A; Akhter MS; Driesen J; Ivaskevicius V; Marquardt N; Oldenburg J
    Blood; 2016 Oct; 128(17):2144-2152. PubMed ID: 27543438
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
    Davis RL; Homer VM; George PM; Brennan SO
    Hum Mutat; 2009 Feb; 30(2):221-7. PubMed ID: 18853456
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.
    Kulseth MA; Berge KE; Bogsrud MP; Leren TP
    J Hum Genet; 2010 Oct; 55(10):676-80. PubMed ID: 20703241
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
    Martínez-Pizarro A; Dembic M; Pérez B; Andresen BS; Desviat LR
    PLoS Genet; 2018 Apr; 14(4):e1007360. PubMed ID: 29684050
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.