BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 29741619)

  • 21. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
    Mitsuhashi S; Boyden SE; Estrella EA; Jones TI; Rahimov F; Yu TW; Darras BT; Amato AA; Folkerth RD; Jones PL; Kunkel LM; Kang PB
    Neuromuscul Disord; 2013 Dec; 23(12):975-80. PubMed ID: 24128691
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele.
    Haynes P; Bomsztyk K; Miller DG
    Epigenetics Chromatin; 2018 Aug; 11(1):47. PubMed ID: 30122154
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.
    Block GJ; Narayanan D; Amell AM; Petek LM; Davidson KC; Bird TD; Tawil R; Moon RT; Miller DG
    Hum Mol Genet; 2013 Dec; 22(23):4661-72. PubMed ID: 23821646
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
    Lemmers RJ; Goeman JJ; van der Vliet PJ; van Nieuwenhuizen MP; Balog J; Vos-Versteeg M; Camano P; Ramos Arroyo MA; Jerico I; Rogers MT; Miller DG; Upadhyaya M; Verschuuren JJ; Lopez de Munain Arregui A; van Engelen BG; Padberg GW; Sacconi S; Tawil R; Tapscott SJ; Bakker B; van der Maarel SM
    Hum Mol Genet; 2015 Feb; 24(3):659-69. PubMed ID: 25256356
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Facioscapulohumeral muscular dystrophy.
    Sacconi S; Salviati L; Desnuelle C
    Biochim Biophys Acta; 2015 Apr; 1852(4):607-14. PubMed ID: 24882751
    [TBL] [Abstract][Full Text] [Related]  

  • 26. DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.
    Lim JW; Snider L; Yao Z; Tawil R; Van Der Maarel SM; Rigo F; Bennett CF; Filippova GN; Tapscott SJ
    Hum Mol Genet; 2015 Sep; 24(17):4817-28. PubMed ID: 26041815
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Facioscapulohumeral muscular dystrophy.
    Tawil R
    Handb Clin Neurol; 2018; 148():541-548. PubMed ID: 29478599
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.
    Greco A; Goossens R; van Engelen B; van der Maarel SM
    Clin Genet; 2020 Jun; 97(6):799-814. PubMed ID: 32086799
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.
    Hamel J; Tawil R
    Neurotherapeutics; 2018 Oct; 15(4):863-871. PubMed ID: 30361930
    [TBL] [Abstract][Full Text] [Related]  

  • 30. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
    Lemmers RJLF; van der Stoep N; Vliet PJV; Moore SA; San Leon Granado D; Johnson K; Topf A; Straub V; Evangelista T; Mozaffar T; Kimonis V; Shaw ND; Selvatici R; Ferlini A; Voermans N; van Engelen B; Sacconi S; Tawil R; Lamers M; van der Maarel SM
    J Med Genet; 2019 Oct; 56(10):693-700. PubMed ID: 31243061
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.
    Jiang S; Williams K; Kong X; Zeng W; Nguyen NV; Ma X; Tawil R; Yokomori K; Mortazavi A
    PLoS Genet; 2020 May; 16(5):e1008754. PubMed ID: 32365093
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
    Balog J; Goossens R; Lemmers RJLF; Straasheijm KR; van der Vliet PJ; Heuvel AVD; Cambieri C; Capet N; Feasson L; Manel V; Contet J; Kriek M; Donlin-Smith CM; Ruivenkamp CAL; Heard P; Tapscott SJ; Cody JD; Tawil R; Sacconi S; van der Maarel SM
    J Med Genet; 2018 Jul; 55(7):469-478. PubMed ID: 29563141
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.
    Hiramuki Y; Tapscott SJ
    Skelet Muscle; 2018 Aug; 8(1):24. PubMed ID: 30071896
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.
    Winston J; Duerden L; Mort M; Frayling IM; Rogers MT; Upadhyaya M
    Eur J Hum Genet; 2015 Jan; 23(1):67-71. PubMed ID: 24755953
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
    Lemmers RJ; van den Boogaard ML; van der Vliet PJ; Donlin-Smith CM; Nations SP; Ruivenkamp CA; Heard P; Bakker B; Tapscott S; Cody JD; Tawil R; van der Maarel SM
    Hum Mutat; 2015 Jul; 36(7):679-83. PubMed ID: 25820463
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
    Renard D; Taieb G; Garibaldi M; Maues De Paula A; Bernard R; Lagha N; Cristofari G; Vovan C; Chaix C; Lévy N; Khau Van Kien P; Sacconi S
    Am J Med Genet A; 2018 Aug; 176(8):1760-1763. PubMed ID: 30055030
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
    Hiramuki Y; Kure Y; Saito Y; Ogawa M; Ishikawa K; Mori-Yoshimura M; Oya Y; Takahashi Y; Kim DS; Arai N; Mori C; Matsumura T; Hamano T; Nakamura K; Ikezoe K; Hayashi S; Goto Y; Noguchi S; Nishino I
    J Transl Med; 2022 Nov; 20(1):517. PubMed ID: 36348371
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.
    Bouwman LF; den Hamer B; Verveer EP; Lerink LJS; Krom YD; van der Maarel SM; de Greef JC
    Skelet Muscle; 2020 Oct; 10(1):27. PubMed ID: 33004076
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.
    Kovanda A; Lovrečić L; Rudolf G; Babic Bozovic I; Jaklič H; Leonardis L; Peterlin B
    Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136988
    [TBL] [Abstract][Full Text] [Related]  

  • 40. FSHD1 and FSHD2 form a disease continuum.
    Sacconi S; Briand-Suleau A; Gros M; Baudoin C; Lemmers RJLF; Rondeau S; Lagha N; Nigumann P; Cambieri C; Puma A; Chapon F; Stojkovic T; Vial C; Bouhour F; Cao M; Pegoraro E; Petiot P; Behin A; Marc B; Eymard B; Echaniz-Laguna A; Laforet P; Salviati L; Jeanpierre M; Cristofari G; van der Maarel SM
    Neurology; 2019 May; 92(19):e2273-e2285. PubMed ID: 30979860
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.