BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 23649844)

  • 1. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
    Giorgio E; Rolyan H; Kropp L; Chakka AB; Yatsenko S; Di Gregorio E; Lacerenza D; Vaula G; Talarico F; Mandich P; Toro C; Pierre EE; Labauge P; Capellari S; Cortelli P; Vairo FP; Miguel D; Stubbolo D; Marques LC; Gahl W; Boespflug-Tanguy O; Melberg A; Hassin-Baer S; Cohen OS; Pjontek R; Grau A; Klopstock T; Fogel B; Meijer I; Rouleau G; Bouchard JP; Ganapathiraju M; Vanderver A; Dahl N; Hobson G; Brusco A; Brussino A; Padiath QS
    Hum Mutat; 2013 Aug; 34(8):1160-71. PubMed ID: 23649844
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
    Giorgio E; Robyr D; Spielmann M; Ferrero E; Di Gregorio E; Imperiale D; Vaula G; Stamoulis G; Santoni F; Atzori C; Gasparini L; Ferrera D; Canale C; Guipponi M; Pennacchio LA; Antonarakis SE; Brussino A; Brusco A
    Hum Mol Genet; 2015 Jun; 24(11):3143-54. PubMed ID: 25701871
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
    Schuster J; Sundblom J; Thuresson AC; Hassin-Baer S; Klopstock T; Dichgans M; Cohen OS; Raininko R; Melberg A; Dahl N
    Neurogenetics; 2011 Feb; 12(1):65-72. PubMed ID: 21225301
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
    Giorgio E; Lorenzati M; Rivetti di Val Cervo P; Brussino A; Cernigoj M; Della Sala E; Bartoletti Stella A; Ferrero M; Caiazzo M; Capellari S; Cortelli P; Conti L; Cattaneo E; Buffo A; Brusco A
    Brain; 2019 Jul; 142(7):1905-1920. PubMed ID: 31143934
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Messenger RNA processing is altered in autosomal dominant leukodystrophy.
    Bartoletti-Stella A; Gasparini L; Giacomini C; Corrado P; Terlizzi R; Giorgio E; Magini P; Seri M; Baruzzi A; Parchi P; Brusco A; Cortelli P; Capellari S
    Hum Mol Genet; 2015 May; 24(10):2746-56. PubMed ID: 25637521
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.
    Brussino A; Vaula G; Cagnoli C; Panza E; Seri M; Di Gregorio E; Scappaticci S; Camanini S; Daniele D; Bradac GB; Pinessi L; Cavalieri S; Grosso E; Migone N; Brusco A
    Eur J Neurol; 2010 Apr; 17(4):541-9. PubMed ID: 19961535
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy.
    Columbaro M; Mattioli E; Maraldi NM; Ortolani M; Gasparini L; D'Apice MR; Postorivo D; Nardone AM; Avnet S; Cortelli P; Liguori R; Lattanzi G
    Biochim Biophys Acta; 2013 Mar; 1832(3):411-20. PubMed ID: 23261988
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Lamin B1 fluctuations have differential effects on cellular proliferation and senescence.
    Dreesen O; Chojnowski A; Ong PF; Zhao TY; Common JE; Lunny D; Lane EB; Lee SJ; Vardy LA; Stewart CL; Colman A
    J Cell Biol; 2013 Mar; 200(5):605-17. PubMed ID: 23439683
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.
    Padiath QS
    Nucleus; 2016 Nov; 7(6):547-553. PubMed ID: 27854160
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes.
    Ratti S; Rusciano I; Mongiorgi S; Owusu Obeng E; Cappellini A; Teti G; Falconi M; Talozzi L; Capellari S; Bartoletti-Stella A; Guaraldi P; Cortelli P; Suh PG; Cocco L; Manzoli L; Ramazzotti G
    Cell Mol Life Sci; 2021 Mar; 78(6):2781-2795. PubMed ID: 33034697
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.
    Heng MY; Lin ST; Verret L; Huang Y; Kamiya S; Padiath QS; Tong Y; Palop JJ; Huang EJ; Ptáček LJ; Fu YH
    J Clin Invest; 2013 Jun; 123(6):2719-29. PubMed ID: 23676464
    [TBL] [Abstract][Full Text] [Related]  

  • 12. LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
    Finnsson J; Sundblom J; Dahl N; Melberg A; Raininko R
    Ann Neurol; 2015 Sep; 78(3):412-25. PubMed ID: 26053668
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy.
    Nmezi B; Vollmer LL; Shun TY; Gough A; Rolyan H; Liu F; Jia Y; Padiath QS; Vogt A
    SLAS Discov; 2020 Sep; 25(8):939-949. PubMed ID: 32349647
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
    Woodward KJ; Cundall M; Sperle K; Sistermans EA; Ross M; Howell G; Gribble SM; Burford DC; Carter NP; Hobson DL; Garbern JY; Kamholz J; Heng H; Hodes ME; Malcolm S; Hobson GM
    Am J Hum Genet; 2005 Dec; 77(6):966-87. PubMed ID: 16380909
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Duplication and deletion upstream of
    Mezaki N; Miura T; Ogaki K; Eriguchi M; Mizuno Y; Komatsu K; Yamazaki H; Suetsugi N; Kawajiri S; Yamasaki R; Ishiguro T; Konno T; Nozaki H; Kasuga K; Okuma Y; Kira JI; Hara H; Onodera O; Ikeuchi T
    Neurol Genet; 2018 Dec; 4(6):e292. PubMed ID: 30697589
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.
    Meijer IA; Simoes-Lopes AA; Laurent S; Katz T; St-Onge J; Verlaan DJ; Dupré N; Thibault M; Mathurin J; Bouchard JP; Rouleau GA
    Arch Neurol; 2008 Nov; 65(11):1496-501. PubMed ID: 19001169
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.
    Ferrera D; Canale C; Marotta R; Mazzaro N; Gritti M; Mazzanti M; Capellari S; Cortelli P; Gasparini L
    FASEB J; 2014 Sep; 28(9):3906-18. PubMed ID: 24858279
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.
    Terlizzi R; Calandra-Buonaura G; Zanigni S; Barletta G; Capellari S; Guaraldi P; Donadio V; Cason E; Contin M; Poda R; Tonon C; Sambati L; Gallassi R; Liguori R; Lodi R; Cortelli P
    Auton Neurosci; 2016 Feb; 195():20-6. PubMed ID: 26896090
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD).
    Lo Martire V; Alvente S; Bastianini S; Berteotti C; Bombardi C; Calandra-Buonaura G; Capellari S; Cohen G; Cortelli P; Gasparini L; Padiath Q; Valli A; Zoccoli G; Silvani A
    Exp Neurol; 2018 Mar; 301(Pt A):1-12. PubMed ID: 29262292
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.