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Function and genetics of dystrophin and dystrophin-related proteins in muscle.
The role of the dystrophin complex and protein family in muscle is discussed and the physiological processes that are affected in Duchenne muscular dystrophy are described. Expand
A functional genetic link between distinct developmental language disorders.
- S. Vernes, D. Newbury, +9 authors S. Fisher
- The New England journal of medicine
- 27 November 2008
The FOXP2-CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language, and is found to be associated with language delays in children with autism. Expand
Utrophin-Dystrophin-Deficient Mice as a Model for Duchenne Muscular Dystrophy
It is suggested that utrophin and dystrophin have complementing roles in normal functional or developmental pathways in muscle and that these mice should provide novel insights into the pathogenesis of DMD and provide an improved model for rapid evaluation of gene therapy strategies. Expand
The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling.
It is demonstrated that mouse Af4 functions as a positive regulator of Pol II transcription elongation factor b (P-TEFb) kinase and, in complex with MLL fusion partners Af9, Enl and Af10, as a mediator of histone H3-K79 methylation by recruiting Dot1 to elongating Pol II. Expand
Expression of full-length utrophin prevents muscular dystrophy in mdx mice
It is demonstrated that expression of full-length utrophin in mdx mice prevents the development of muscular dystrophy and provides evidence that the pathology depends on the amount of utphin expression. Expand
Neuromuscular defects in a Drosophila survival motor neuron gene mutant.
- Y. Chan, I. Miguel-Aliaga, +5 authors M. van den Heuvel
- Biology, Medicine
- Human molecular genetics
- 15 June 2003
A new Drosophila model for SMA is proposed, finding that zygotic smn mutant animals show abnormal motor behavior and that smn gene activity is required in both neurons and muscle to alleviate this phenotype, and proposes a functional role for SMN at the neuromUScular junction in the generation of neuromuscular defects. Expand
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
It is demonstrated that individuals with this fragile site FRAXE possess amplifications of a GCC repeat adjacent to a CpG island in Xq28 of the human X chromosome, another example in which a trinucleotide repeat expansion is associated with a human genetic disorder. Expand
Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans
The utility of ENU mutagenesis in the mouse as a means to discover the basis of human neurodevelopmental disorders is demonstrated and the causative mutation lies in the guanosine triphosphate (GTP) binding pocket of α-1 tubulin (Tuba1) and affects tubulin heterodimer formation. Expand
Foxp2 Regulates Gene Networks Implicated in Neurite Outgrowth in the Developing Brain
It is indicated that Foxp2 modulates neuronal network formation, by directly and indirectly regulating mRNAs involved in the development and plasticity of neuronal connections in primary neurons and in neuronal cell models. Expand
Identification and Characterization of Murine SCARA5, a Novel Class A Scavenger Receptor That Is Expressed by Populations of Epithelial Cells*
- Yanyan Jiang, P. Oliver, K. Davies, N. Platt
- Biology, Medicine
- Journal of Biological Chemistry
- 28 April 2006
This work identifies a novel murine scavenger receptor, SCARA5, which has a structure typical of this class and proposes that this receptor may play important roles in the innate immune activities of these cells. Expand