13 results for author:"Paznekas W.A." in Literature citations
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| Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V. Chtchetinin J., Gifford W.D., Li S., Paznekas W.A., Jabs E.W., Lai A. FEBS J. 276:6992-7005(2009) · Mapped (6) |
| GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Paznekas W.A., Karczeski B., Vermeer S., Lowry R.B., Delatycki M., Laurence F., Koivisto P.A., Van Maldergem L., Boyadjiev S.A., Bodurtha J.N. et al. Hum. Mutat. 30:724-733(2009) · UniProtKB (1) |
| Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. Cai J., Goodman B.K., Patel A.S., Mulliken J.B., Van Maldergem L., Hoganson G.E., Paznekas W.A., Ben-Neriah Z., Sheffer R., Cunningham M.L. et al. Hum. Genet. 114:68-76(2003) · Mapped (1) |
| Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Paznekas W.A., Boyadjiev S.A., Shapiro R.E., Daniels O., Wollnik B., Keegan C.E., Innis J.W., Dinulos M.B., Christian C., Hannibal M.C. et al. Am. J. Hum. Genet. 72:408-418(2003) · UniProtKB (1) · Mapped (5) |
| Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Ingersoll R.G., Paznekas W.A., Tran A.K., Scott A.F., Jiang G., Jabs E.W. Cytogenet. Cell Genet. 94:121-126(2001) · UniProtKB (1) |
| Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P). Paznekas W.A., Okajima K., Schertzer M., Wood S., Jabs E.W. |
| Human SLUG gene organization, expression, and chromosome map location on 8q. Cohen M.E., Yin M., Paznekas W.A., Schertzer M., Wood S., Jabs E.W. Genomics 51:468-471(1998) · UniProtKB (1) |
| Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Paznekas W.A., Cunningham M.L., Howard T.D., Korf B.R., Lipson M.H., Grix A.W., Feingold M., Goldberg R., Borochowitz Z., Aleck K. et al. Am. J. Hum. Genet. 62:1370-1380(1998) · Mapped (53) |
| Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. Paznekas W.A., Zhang N., Gridley T., Jabs E.W. Biochem. Biophys. Res. Commun. 238:1-6(1997) · UniProtKB (1) · Mapped (22) |
| TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Wise C.A., Chiang L.C., Paznekas W.A., Sharma M., Musy M.M., Ashley J.A., Lovett M., Jabs E.W. Proc. Natl. Acad. Sci. U.S.A. 94:3110-3115(1997) · UniProtKB (1) · Mapped (11) |
| Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Howard T.D., Paznekas W.A., Green E.D., Chiang L.C., Ma N., Ortiz de Luna R.I., Delgado C.G., Gonzalez-Ramos M., Kline A.D., Jabs E.W. |
| Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Przylepa K.A., Paznekas W.A., Zhang M., Golabi M., Bias W., Bamshad M.J., Carey J.C., Hall B.D., Stevenson R., Orlow S.J. et al. Nat. Genet. 13:492-494(1996) · UniProtKB (1) |
| Definition of a lipopolysaccharide-responsive element in the 5'-flanking regions of MuRantes and crg-2. Shin H.S., Drysdale B.E., Shin M.L., Noble P.W., Fisher S.N., Paznekas W.A. Mol. Cell. Biol. 14:2914-2925(1994) · UniProtKB (1) |