Results 41 to 50 of about 1,312 (124)

Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

Abstract The D4Z4 macrosatellite repeat encompasses some of the most difficult-to-resolve disease-related variations in the human genome. D4Z4 has a repeat unit of 3.3 kb (encoding the DUX4 gene) that is present in up to 100 copies on two chromosomes (4 and 10), while
Xiao Chen, Richard J. L. F. Lemmers, Zev Kronenberg, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, Shamila Yusuff, Solomon Lynch, Keith Nykamp, Amanda S. Lindy, Egor Dolzhenko, Silvère M. van der Maarel, Michael A. Eberle   +12 more
openaire   +1 more source

Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy. [PDF]

Neurol Genet
Xu Y, Wang J, Chen Y, Zeng Y, Wang Q, Fan H, Feng S, Huang X, Luo X, Pan J, Wang J, Guo J, Li R, Lu B, Zhou C, Fei J, Xu Y.   +16 more
europepmc   +1 more source

Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End. [PDF]

Genome Res
Xiao LC, Semwal A, St John B, Zeglinski K, Su S, Lancaster J, Xue S, Reversade B, Ritchie ME, Magdinier F, Blewitt ME, Gouil Q.   +11 more
europepmc   +1 more source

Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology. [PDF]

Dis Model Mech
Hiramuki Y, Himeda CL, Jones PL, Jones TI.   +3 more
europepmc   +1 more source

DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD). [PDF]

Hum Genomics
Löwenstern T, Madritsch S, Horner D, Brait N, Güleray Lafci N, Schachner A, Gerykova Bujalkova M, Kałużewski T, Szyld P, Hengstschläger M, Dremsek P, Laccone F.   +11 more
europepmc   +1 more source

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats. [PDF]

Eur J Hum Genet
Salsi V, Losi F, Pini S, Chiara M, Tupler R.   +4 more
europepmc   +1 more source

Chemical inhibition of SUMOylation activates the FSHD locus. [PDF]

Sci Rep
Nordlinger A, Morin L, Andrieux A, Trani JP, Perrin P, Eudes N, Bigot A, Dejean A, Magdinier F.   +8 more
europepmc   +1 more source

Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) - Case Study. [PDF]

Appl Clin Genet
Duchnowska E, Kosztyła-Hojna B, Zdrojkowski M, Burton-Jones S, Kułak W.   +4 more
europepmc   +1 more source

A new integrated genetic and transcriptomic approach for investigating DUX4 and DUX4C. [PDF]

J Hum Genet
Zhuang Z, Ueda MT, Yamaguchi K, Kochi Y.
europepmc   +1 more source

DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy. [PDF]

Skelet Muscle
Belayew A, Rosa AL, Zammit PS.
europepmc   +1 more source