Marlinde L. van den Boogaard conduct analyses suggesting transcription of DUX4 in somatic cells is modified by variations in its epigenetic state and provide a basis for understanding the reduced penetrance
of Facioscapulohumeral dystrophy (FSHD) within families.
Not exact matches
Researchers at the University
of Minnesota have developed an animal research model for
facioscapulohumeral muscular dystrophy (FSHD) to be used for muscle regeneration research as well as studies
of the effectiveness
of potential therapies for FSHD.
Cytogenetic and immuno - FISH analysis
of the 4q subtelomeric region, which is associated with
facioscapulohumeral muscular dystrophy.
Muscular dystrophies are an inherited group
of disorders, and include Duchenne and Becker, Emery Driefuss, limb - girdle, myotonic,
facioscapulohumeral, and distal types.
Recently published findings from a team
of researchers at the University
of Massachusetts Medical School in Worcester, Mass., suggest that a modified form
of this CRISPR gene - editing technology may eventually result in a cure for
facioscapulohumeral muscular dystrophy (FSHD), a form
of the disease that leads to progressive muscular degeneration in the face, shoulder blades and upper arms.
Nanopore - based single molecule sequencing
of the D4Z4 array responsible for
facioscapulohumeral muscular dystrophy
34/4: 15 DNA combing as a first - tier genetic testing for
facioscapulohumeral dystrophy type 1: A cohort
of 155 patients.