Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. [electronic resource]
- Human molecular genetics Oct 2014
- 5171-87 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddu240 doi
Alleles Animals Base Sequence Binding Sites Charcot-Marie-Tooth Disease--diagnosis Colforsin--pharmacology Computational Biology Conserved Sequence Cyclic AMP Response Element-Binding Protein--metabolism Databases, Genetic Gene Expression Gene Expression Regulation--drug effects Genes, Reporter Genetic Loci Haplotypes Humans Intracellular Signaling Peptides and Proteins Mice Molecular Sequence Data Motor Neurons--metabolism Nucleotide Motifs Polymorphism, Single Nucleotide Promoter Regions, Genetic Protein Binding Proteins--genetics Rats Regulatory Sequences, Nucleic Acid Response Elements SOXE Transcription Factors--metabolism Schwann Cells--metabolism Sequence Alignment Severity of Illness Index Transcription Factors--metabolism Transcriptional Activation