Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice. Hum Mol Genet. 28, 209-219 (2019). 30260394
Dong, R. et al. Cells with dendritic cell morphology and immunophenotype, binuclear morphology, and immunosuppressive function in dendritic cell cultures. Cell. Immunol. 272, 1-10 (2011). 22053194
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death. Circ Cardiovasc Genet. 9, 130-5 (2016). 26933038
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. Hum Mol Genet. 24, 714-26 (2015). 25274776
Fujii, T. et al. A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles. J. Neurol. Sci. 343, 206-10 (2014). 24928078
Gueneau, L. et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am. J. Hum. Genet. 85, 338-53 (2009). 19716112
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. Neuromuscul. Disord. 27, 338-351 (2017). 28214269
Koike, K. et al. High prevalence of epigenetic inactivation of the human four and a half LIM domains 1 gene in human oral cancer. Int. J. Oncol. 42, 141-50 (2013). 23123766
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. Hum Mol Genet. 23, 209-25 (2014). 23975679
Quinzii, C. M. et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am. J. Hum. Genet. 82, 208-13 (2008). 18179901
Schoser, B. et al. Consequences of mutations within the C terminus of the FHL1 gene. Neurology 73, 543-51 (2009). 19687455
Sharma, P., Shathasivam, T., Ignatchenko, V., Kislinger, T. & Gramolini, A. O. Identification of an FHL1 protein complex containing ACTN1, ACTN4, and PDLIM1 using affinity purifications and MS-based protein-protein interaction analysis. Mol. Biosyst. 7, 1185-96 (2011). 21246116
Windpassinger, C. et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am. J. Hum. Genet. 82, 88-99 (2008). 18179888 |