BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

322 related articles for article (PubMed ID: 27576763)

  • 1. Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.
    Deardorff MA; Porter NJ; Christianson DW
    Protein Sci; 2016 Nov; 25(11):1965-1976. PubMed ID: 27576763
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.
    Decroos C; Christianson NH; Gullett LE; Bowman CM; Christianson KE; Deardorff MA; Christianson DW
    Biochemistry; 2015 Oct; 54(42):6501-13. PubMed ID: 26463496
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.
    Decroos C; Bowman CM; Moser JA; Christianson KE; Deardorff MA; Christianson DW
    ACS Chem Biol; 2014 Sep; 9(9):2157-64. PubMed ID: 25075551
    [TBL] [Abstract][Full Text] [Related]  

  • 4. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
    Deardorff MA; Bando M; Nakato R; Watrin E; Itoh T; Minamino M; Saitoh K; Komata M; Katou Y; Clark D; Cole KE; De Baere E; Decroos C; Di Donato N; Ernst S; Francey LJ; Gyftodimou Y; Hirashima K; Hullings M; Ishikawa Y; Jaulin C; Kaur M; Kiyono T; Lombardi PM; Magnaghi-Jaulin L; Mortier GR; Nozaki N; Petersen MB; Seimiya H; Siu VM; Suzuki Y; Takagaki K; Wilde JJ; Willems PJ; Prigent C; Gillessen-Kaesbach G; Christianson DW; Kaiser FJ; Jackson LG; Hirota T; Krantz ID; Shirahige K
    Nature; 2012 Sep; 489(7415):313-7. PubMed ID: 22885700
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
    Kaiser FJ; Ansari M; Braunholz D; Concepción Gil-Rodríguez M; Decroos C; Wilde JJ; Fincher CT; Kaur M; Bando M; Amor DJ; Atwal PS; Bahlo M; Bowman CM; Bradley JJ; Brunner HG; Clark D; Del Campo M; Di Donato N; Diakumis P; Dubbs H; Dyment DA; Eckhold J; Ernst S; Ferreira JC; Francey LJ; Gehlken U; Guillén-Navarro E; Gyftodimou Y; Hall BD; Hennekam R; Hudgins L; Hullings M; Hunter JM; Yntema H; Innes AM; Kline AD; Krumina Z; Lee H; Leppig K; Lynch SA; Mallozzi MB; Mannini L; McKee S; Mehta SG; Micule I; ; Mohammed S; Moran E; Mortier GR; Moser JA; Noon SE; Nozaki N; Nunes L; Pappas JG; Penney LS; Pérez-Aytés A; Petersen MB; Puisac B; Revencu N; Roeder E; Saitta S; Scheuerle AE; Schindeler KL; Siu VM; Stark Z; Strom SP; Thiese H; Vater I; Willems P; Williamson K; Wilson LC; ; Hakonarson H; Quintero-Rivera F; Wierzba J; Musio A; Gillessen-Kaesbach G; Ramos FJ; Jackson LG; Shirahige K; Pié J; Christianson DW; Krantz ID; Fitzpatrick DR; Deardorff MA
    Hum Mol Genet; 2014 Jun; 23(11):2888-900. PubMed ID: 24403048
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.
    Osko JD; Porter NJ; Decroos C; Lee MS; Watson PR; Raible SE; Krantz ID; Deardorff MA; Christianson DW
    J Struct Biol; 2021 Mar; 213(1):107681. PubMed ID: 33316326
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
    Gil-Rodríguez MC; Deardorff MA; Ansari M; Tan CA; Parenti I; Baquero-Montoya C; Ousager LB; Puisac B; Hernández-Marcos M; Teresa-Rodrigo ME; Marcos-Alcalde I; Wesselink JJ; Lusa-Bernal S; Bijlsma EK; Braunholz D; Bueno-Martinez I; Clark D; Cooper NS; Curry CJ; Fisher R; Fryer A; Ganesh J; Gervasini C; Gillessen-Kaesbach G; Guo Y; Hakonarson H; Hopkin RJ; Kaur M; Keating BJ; Kibaek M; Kinning E; Kleefstra T; Kline AD; Kuchinskaya E; Larizza L; Li YR; Liu X; Mariani M; Picker JD; Pié Á; Pozojevic J; Queralt E; Richer J; Roeder E; Sinha A; Scott RH; So J; Wusik KA; Wilson L; Zhang J; Gómez-Puertas P; Casale CH; Ström L; Selicorni A; Ramos FJ; Jackson LG; Krantz ID; Das S; Hennekam RC; Kaiser FJ; FitzPatrick DR; Pié J
    Hum Mutat; 2015 Apr; 36(4):454-62. PubMed ID: 25655089
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cornelia de Lange syndrome.
    Boyle MI; Jespersgaard C; Brøndum-Nielsen K; Bisgaard AM; Tümer Z
    Clin Genet; 2015 Jul; 88(1):1-12. PubMed ID: 25209348
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The expanding phenotypes of cohesinopathies: one ring to rule them all!
    Piché J; Van Vliet PP; Pucéat M; Andelfinger G
    Cell Cycle; 2019 Nov; 18(21):2828-2848. PubMed ID: 31516082
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
    Yuan B; Pehlivan D; Karaca E; Patel N; Charng WL; Gambin T; Gonzaga-Jauregui C; Sutton VR; Yesil G; Bozdogan ST; Tos T; Koparir A; Koparir E; Beck CR; Gu S; Aslan H; Yuregir OO; Al Rubeaan K; Alnaqeb D; Alshammari MJ; Bayram Y; Atik MM; Aydin H; Geckinli BB; Seven M; Ulucan H; Fenercioglu E; Ozen M; Jhangiani S; Muzny DM; Boerwinkle E; Tuysuz B; Alkuraya FS; Gibbs RA; Lupski JR
    J Clin Invest; 2015 Feb; 125(2):636-51. PubMed ID: 25574841
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
    Mannini L; Cucco F; Quarantotti V; Krantz ID; Musio A
    Hum Mutat; 2013 Dec; 34(12):1589-96. PubMed ID: 24038889
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.
    Sarogni P; Pallotta MM; Musio A
    J Med Genet; 2020 May; 57(5):289-295. PubMed ID: 31704779
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
    Kaur M; Blair J; Devkota B; Fortunato S; Clark D; Lawrence A; Kim J; Do W; Semeo B; Katz O; Mehta D; Yamamoto N; Schindler E; Al Rawi Z; Wallace N; Wilde JJ; McCallum J; Liu J; Xu D; Jackson M; Rentas S; Tayoun AA; Zhe Z; Abdul-Rahman O; Allen B; Angula MA; Anyane-Yeboa K; Argente J; Arn PH; Armstrong L; Basel-Salmon L; Baynam G; Bird LM; Bruegger D; Ch'ng GS; Chitayat D; Clark R; Cox GF; Dave U; DeBaere E; Field M; Graham JM; Gripp KW; Greenstein R; Gupta N; Heidenreich R; Hoffman J; Hopkin RJ; Jones KL; Jones MC; Kariminejad A; Kogan J; Lace B; Leroy J; Lynch SA; McDonald M; Meagher K; Mendelsohn N; Micule I; Moeschler J; Nampoothiri S; Ohashi K; Powell CM; Ramanathan S; Raskin S; Roeder E; Rio M; Rope AF; Sangha K; Scheuerle AE; Schneider A; Shalev S; Siu V; Smith R; Stevens C; Tkemaladze T; Toimie J; Toriello H; Turner A; Wheeler PG; White SM; Young T; Loomes KM; Pipan M; Harrington AT; Zackai E; Rajagopalan R; Conlin L; Deardorff MA; McEldrew D; Pie J; Ramos F; Musio A; Kline AD; Izumi K; Raible SE; Krantz ID
    Am J Med Genet A; 2023 Aug; 191(8):2113-2131. PubMed ID: 37377026
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
    Gervasini C; Parenti I; Picinelli C; Azzollini J; Masciadri M; Cereda A; Selicorni A; Russo S; Finelli P; Larizza L
    Eur J Med Genet; 2013 Mar; 56(3):138-43. PubMed ID: 23313159
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Could a patient with SMC1A duplication be classified as a human cohesinopathy?
    Baquero-Montoya C; Gil-Rodríguez MC; Teresa-Rodrigo ME; Hernández-Marcos M; Bueno-Lozano G; Bueno-Martínez I; Remeseiro S; Fernández-Hernández R; Bassecourt-Serra M; Rodríguez de Alba M; Queralt E; Losada A; Puisac B; Ramos FJ; Pié J
    Clin Genet; 2014 May; 85(5):446-51. PubMed ID: 23683030
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.
    Bottai D; Spreafico M; Pistocchi A; Fazio G; Adami R; Grazioli P; Canu A; Bragato C; Rigamonti S; Parodi C; Cazzaniga G; Biondi A; Cotelli F; Selicorni A; Massa V
    Hum Mol Genet; 2019 Jan; 28(1):64-73. PubMed ID: 30239720
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Novel Intragenic Duplication in the
    Lucia-Campos C; Valenzuela I; Latorre-Pellicer A; Ros-Pardo D; Gil-Salvador M; Arnedo M; Puisac B; Castells N; Plaja A; Tenes A; Cuscó I; Trujillano L; Ramos FJ; Tizzano EF; Gómez-Puertas P; Pié J
    Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011323
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
    Parenti I; Rovina D; Masciadri M; Cereda A; Azzollini J; Picinelli C; Limongelli G; Finelli P; Selicorni A; Russo S; Gervasini C; Larizza L
    Epigenetics; 2014 Jul; 9(7):973-9. PubMed ID: 24756084
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
    Revenkova E; Focarelli ML; Susani L; Paulis M; Bassi MT; Mannini L; Frattini A; Delia D; Krantz I; Vezzoni P; Jessberger R; Musio A
    Hum Mol Genet; 2009 Feb; 18(3):418-27. PubMed ID: 18996922
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
    Parenti I; Gervasini C; Pozojevic J; Wendt KS; Watrin E; Azzollini J; Braunholz D; Buiting K; Cereda A; Engels H; Garavelli L; Glazar R; Graffmann B; Larizza L; Lüdecke HJ; Mariani M; Masciadri M; Pié J; Ramos FJ; Russo S; Selicorni A; Stefanova M; Strom TM; Werner R; Wierzba J; Zampino G; Gillessen-Kaesbach G; Wieczorek D; Kaiser FJ
    Clin Genet; 2016 May; 89(5):564-73. PubMed ID: 26671848
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.