Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study provides new functional outcome measures for preclinical trials of FKRP-related muscular dystrophies.
|
29625576 |
2018 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The results demonstrate that tamoxifen and raloxifene hold significant potential for treating FKRP-related muscular dystrophy and probably other muscular dystrophies.
|
29571322 |
2018 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Muscular dystrophy-dystroglycanopathies (MDDGs) resulting from fukutin-related protein (<i>FKRP</i>) gene mutations are rare disorders that result in a wide spectrum of clinical severity based on the age of onset, the degree of myogenic atrophy, and/or neurologic involvement.
|
30417025 |
2018 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Limb girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy that is rare in Asia and is caused by mutations in the fukutin-related protein gene (<i>FKRP</i>).
|
30003095 |
2018 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Together, these studies demonstrate the utility of the zebrafish to both study human-specific FKRP mutations and perform compound library screenings for corrective drug compounds to treat muscular dystrophies.
|
30232282 |
2018 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Limb girdle muscular dystrophy 2I is a slowly progressive muscular dystrophy due to mutations in the Fukutin-related protein ( FKRP) gene.
|
27872178 |
2017 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Mouse models of human ocular disease for translational research.
|
28859131 |
2017 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fukutin-related protein (FKRP) muscular dystrophy (n=6) was the most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) and dystrophinopathy (n=2).
|
26810512 |
2016 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I.
|
24139536 |
2013 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A common cause for this subset of muscular dystrophies is mutations in the gene of fukutin-related protein (FKRP).
|
23591631 |
2013 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Allelic mutations in putative glycosyltransferase genes, fukutin and fukutin-related protein (fkrp), lead to a wide range of muscular dystrophies associated with hypoglycosylation of α-dystroglycan, commonly referred to as dystroglycanopathies.
|
21317159 |
2011 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
The mutant mouse represents a valuable model to further elucidate the functions of FKRP and develop therapies for FKRP-related muscular dystrophies.
|
20675713 |
2010 |
Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Downregulating FKRP expression in zebrafish by two different morpholinos resulted in embryos which had developmental defects similar to those observed in human muscular dystrophies associated with mutations in FKRP.
|
19955119 |
2010 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP).
|
20234391 |
2010 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
|
17336067 |
2007 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I).
|
18036232 |
2007 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
We studied cerebral MRIs in twelve patients with FKRP-associated muscular dystrophy presenting in infancy or early childhood, at ages between 14 months and 43 years.
|
16368217 |
2006 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
LHGDN |
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
|
15574464 |
2005 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP).
|
16288869 |
2005 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Other genes (POMT1, POMGnT1, fukutin, and FKRP) that encode known or putative glycosylation enzymes are also causally associated with human congenital muscular dystrophies.
|
15958417 |
2005 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Of the cases where the CAPN3 gene was not affected, approximately 20% were diagnosed as LGMD2I muscular dystrophy, while facioscapulohumeral muscular dystrophy (FSHD) was uncommon in this sample.
|
15689361 |
2005 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
FKRP mutations account for a broad spectrum of patients with muscular dystrophy, from a severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I).
|
14652796 |
2004 |
Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
|
14742276 |
2004 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
FKRP mutations account for a broad spectrum of patients with muscular dystrophy, from a severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I).
|
14652796 |
2004 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
|
12654965 |
2003 |