The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

Judith C. T. van Deutekom, Cisca Wljmenga, Esther A.E.Van Tlenhoven et al. · Human Molecular Genetics · 1993 · 533 citations

Life Sciences, Genetics, Molecular Genetics +17

Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila

Daniel Bopp, Maya Burri, Stefan Baumgartner et al. · Cell · 1986 · 497 citations

Life Sciences, Genetics, Molecular Biology +14

Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation

Miho Kawamura-Saito, Yukari Yamazaki, Keiko Kaneko et al. · Human Molecular Genetics · 2006 · 458 citations

Medicine, Genetics, Molecular Genetics +16

Inappropriate Gene Activation in FSHD

Davide Gabellini, Michael R. Green, Rossella Tupler · Cell · 2002 · 399 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

Jan Gabriëls, M.-C. Beckers, Hao Ding et al. · Gene · 1999 · 350 citations

Life Sciences, Genetics, Molecular Genetics +8