BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 25047197)

  • 1. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
    Lynch DC; Revil T; Schwartzentruber J; Bhoj EJ; Innes AM; Lamont RE; Lemire EG; Chodirker BN; Taylor JP; Zackai EH; McLeod DR; Kirk EP; Hoover-Fong J; Fleming L; Savarirayan R; ; Majewski J; Jerome-Majewska LA; Parboosingh JS; Bernier FP
    Nat Commun; 2014 Jul; 5():4483. PubMed ID: 25047197
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.
    Bacrot S; Doyard M; Huber C; Alibeu O; Feldhahn N; Lehalle D; Lacombe D; Marlin S; Nitschke P; Petit F; Vazquez MP; Munnich A; Cormier-Daire V
    Hum Mutat; 2015 Feb; 36(2):187-90. PubMed ID: 25504470
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome.
    Tay YL
    Clin Genet; 2015 Jan; 87(1):32-3. PubMed ID: 25174690
    [No Abstract]   [Full Text] [Related]  

  • 4. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
    Tooley M; Lynch D; Bernier F; Parboosingh J; Bhoj E; Zackai E; Calder A; Itasaki N; Wakeling E; Scott R; Lees M; Clayton-Smith J; Blyth M; Morton J; Shears D; Kini U; Homfray T; Clarke A; Barnicoat A; Wallis C; Hewitson R; Offiah A; Saunders M; Langton-Hewer S; Hilliard T; Davis P; Smithson S
    Am J Med Genet A; 2016 May; 170A(5):1115-26. PubMed ID: 26971886
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Local modulation of the Wnt/β-catenin and bone morphogenic protein (BMP) pathways recapitulates rib defects analogous to cerebro-costo-mandibular syndrome.
    Turner BRH; Itasaki N
    J Anat; 2020 May; 236(5):931-945. PubMed ID: 31884688
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Defects of the spliceosomal gene SNRPB affect osteo- and chondro-differentiation.
    Knill C; Henderson EJ; Johnson C; Wah VY; Cheng K; Forster AJ; Itasaki N
    FEBS J; 2024 Jan; 291(2):272-291. PubMed ID: 37584444
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The splicing factor SNRPB promotes ovarian cancer progression through regulating aberrant exon skipping of POLA1 and BRCA2.
    Li Y; Chen Z; Peng J; Yuan C; Yan S; Yang N; Li P; Kong B
    Oncogene; 2023 Jul; 42(31):2386-2401. PubMed ID: 37391593
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Non-ubiquitous expression of core spliceosomal protein SmB/B' in chick and mouse embryos.
    Turner BRH; Mellor C; McElroy C; Bowen N; Gu W; Knill C; Itasaki N
    Dev Dyn; 2023 Feb; 252(2):276-293. PubMed ID: 36058892
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Regulation of alternative splicing by the core spliceosomal machinery.
    Saltzman AL; Pan Q; Blencowe BJ
    Genes Dev; 2011 Feb; 25(4):373-84. PubMed ID: 21325135
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Consideration of the thoracic phenotype of cerebro-costo-mandibular syndrome.
    Keeling H; Williams EJ; Itasaki N
    Clin Anat; 2024 Apr; 37(3):254-269. PubMed ID: 37265362
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis.
    Alam SS; Kumar S; Beauchamp MC; Bareke E; Boucher A; Nzirorera N; Dong Y; Padilla R; Zhang SJ; Majewski J; Jerome-Majewska LA
    Dis Model Mech; 2022 Jun; 15(6):. PubMed ID: 35593225
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cerebro-costo-mandibular syndrome. A new familial developmental disorder.
    McNicholl B; Egan-Mitchell B; Murray JP; Doyle JF; Kennedy JD; Crome L
    Arch Dis Child; 1970 Jun; 45(241):421-4. PubMed ID: 5427859
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A review of craniofacial disorders caused by spliceosomal defects.
    Lehalle D; Wieczorek D; Zechi-Ceide RM; Passos-Bueno MR; Lyonnet S; Amiel J; Gordon CT
    Clin Genet; 2015 Nov; 88(5):405-15. PubMed ID: 25865758
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SNRPB promotes the tumorigenic potential of NSCLC in part by regulating RAB26.
    Liu N; Wu Z; Chen A; Wang Y; Cai D; Zheng J; Liu Y; Zhang L
    Cell Death Dis; 2019 Sep; 10(9):667. PubMed ID: 31511502
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cerebro-costo-mandibular syndrome. A case report and review of the literature.
    Tachibana K; Yamamoto Y; Osaki E; Kuroki Y
    Hum Genet; 1980; 54(2):283-6. PubMed ID: 7390499
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome.
    Ramaswamy P; Negus S; Homfray T; De Rooy L
    Arch Dis Child Fetal Neonatal Ed; 2016 Jan; 101(1):F85. PubMed ID: 26240113
    [No Abstract]   [Full Text] [Related]  

  • 17. Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay.
    Zhang Z; Xin D; Wang P; Zhou L; Hu L; Kong X; Hurst LD
    BMC Biol; 2009 May; 7():23. PubMed ID: 19442261
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Poison exons in neurodevelopment and disease.
    Carvill GL; Mefford HC
    Curr Opin Genet Dev; 2020 Dec; 65():98-102. PubMed ID: 32615329
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?
    Hennekam RC; Goldschmeding R
    Eur J Hum Genet; 1998 Jan; 6(1):71-4. PubMed ID: 9781016
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cerebro-costo-mandibular syndrome: a familial case consistent with autosomal recessive inheritance.
    Trautman MS; Schelley SL; Stevenson DK
    J Pediatr; 1985 Dec; 107(6):990-1. PubMed ID: 4067764
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.