Results 71 to 80 of about 1,312 (124)

Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis. [PDF]

Nucleic Acids Res
Salsi V, Losi F, Fosso B, Ferrarini M, Pini S, Manfredi M, Vattemi G, Mongini T, Maggi L, Pesole G, Henras AK, Kaufman PD, McStay B, Tupler R.   +13 more
europepmc   +1 more source

Current landscape for the management of facioscapulohumeral muscular dystrophy and emerging treatment modalities: A literature review. [PDF]

AIMS Neurosci
Ansari U, Nadora D, Ong L, Sedighi R, Tabaie E, Ansari Z, Alam M, Syed B, Amani N, Preiss-Farzanegan S.   +9 more
europepmc   +1 more source

Rapid Identification of <i>DUX4::IGH</i> Fusion in Acute Lymphoblastic Leukemia. [PDF]

EJHaem
Moritani K, Eguchi-Ishimae M, Tezuka-Kagajo M, Miyamoto M, Iwamoto M, Kawakami S, Nakamura R, Nagai K, Tomomatsu S, Imai T, Ishida Y, Tauchi H, Ishii E, Eguchi M.   +13 more
europepmc   +1 more source

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients. [PDF]

Clin Epigenetics
Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, Monforte M, Zampatti S, Primiano G, Sancricca C, Bortolani S, Torchia E, Ravera B, Torri F, Gadaleta G, Risi B, Caria F, Gerardi F, Carraro E, Gioiosa V, Garibaldi M, Tufano L, Frezza E, Massa R, Caltagirone C, Pennisi EM, Petrucci A, Pane M, Frongia A, Gragnani F, Scutifero M, Mandich P, Grandis M, Maioli MA, Casali C, Manfroi E, Politano L, Passamano L, Petillo R, Rodolico C, Pugliese A, Previtali SC, Sansone V, Vercelli L, Mongini TE, Ricci G, Siciliano G, Filosto M, Ricci E, Cascella R, Giardina E, FSHD Italian Clinical Group.   +51 more
europepmc   +1 more source

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy. [PDF]

Brain
Franken M, van der Wal E, Zheng D, den Hamer B, van der Vliet PJ, Lemmers RJLF, van den Heuvel A, Dorn AL, Duivenvoorden CGA, In 't Groen SLM, Freund C, Eussen B, Tawil R, van Engelen BGM, Pijnappel WWMP, van der Maarel SM, de Greef JC.   +16 more
europepmc   +1 more source

All-in-one vectors for epigenetic CRISPR inhibition of <i>DUX4-fl</i> in facioscapulohumeral muscular dystrophy. [PDF]

Mol Ther Methods Clin Dev
Himeda CL, Jones TI, Jones PL.
europepmc   +1 more source

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders. [PDF]

Int J Mol Sci
Megalizzi D, Trastulli G, Colantoni L, Proietti Piorgo E, Primiano G, Sancricca C, Caltagirone C, Cascella R, Strafella C, Giardina E.   +9 more
europepmc   +1 more source

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics. [PDF]

Clin Transl Med
Liu W, Chen H, Jiao J, Zhang Q, Liang D, Huo H, Ji X, Huang M, Hou X, Cao Y, Wu S, Wang Y, Zhang J, Xu Z, Hu P.   +14 more
europepmc   +1 more source

[Clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia in children]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Luo YX, Jiang H, Wang JY, Hao WG, Zhang WN.   +4 more
europepmc   +1 more source

Multi-scale machine learning model predicts muscle and functional disease progression. [PDF]

Sci Rep
Blemker SS, Riem L, DuCharme O, Pinette M, Costanzo KE, Weatherley E, Statland J, Tapscott SJ, Wang LH, Shaw DWW, Song X, Leung D, Friedman SD.   +12 more
europepmc   +1 more source