| Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. Baumber L., Tufarelli C., Patel S., King P., Johnson C.A., Maher E.R., Trembath R.C.
J. Med. Genet. 42:443-448(2005) · UniProtKB (1) |
| Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Tufarelli C., Stanley J.A., Garrick D., Sharpe J.A., Ayyub H., Wood W.G., Higgs D.R.
Nat. Genet. 34:157-165(2003) · Mapped (2) |
| Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype. Anguita E., Sharpe J.A., Sloane-Stanley J.A., Tufarelli C., Higgs D.R., Wood W.G.
Blood 100:3450-3456(2002) · Mapped (3) |
| Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain. Tufarelli C., Frischauf A.-M., Hardison R., Flint J., Higgs D.R.
Genomics 71:307-314(2001) · UniProtKB (1) · Mapped (3) |
| Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster. Flint J., Tufarelli C., Peden J., Clark K., Daniels R.J., Hardison R., Miller W., Philipsen S., Tan-Un K.C., McMorrow T. et al.
Hum. Mol. Genet. 10:371-382(2001) · UniProtKB (23) |
| Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J. et al.
Hum. Mol. Genet. 10:339-352(2001) · UniProtKB (91) |
| Hair defects and pup loss in mice with targeted deletion of the first cut repeat domain of the Cux/CDP homeoprotein gene. Tufarelli C., Fujiwara Y., Zappulla D.C., Neufeld E.J.
Dev. Biol. 200:69-81(1998) · Mapped (9) |
| CASP, a novel, highly conserved alternative-splicing product of the CDP/cut/cux gene, lacks cut-repeat and homeo DNA-binding domains, and interacts with full-length CDP in vitro. Lievens P.M.-J., Tufarelli C., Donady J.J., Stagg A., Neufeld E.J.
Gene 197:73-81(1997) · UniProtKB (3) |
in Literature Citations
