Search Results - "Hoth, Christopher"

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome by Baldwin, Clinton T, Hoth, Christopher F, Amos, Jean A, da-Silva, Elias O, Milunsky, Aubrey

“…Here we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This…”
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Cloning, expression and pharmacological characterization of rabbit adenosine A1 and A3 receptors by Hill, R J, Oleynek, J J, Hoth, C F, Kiron, M A, Weng, W, Wester, R T, Tracey, W R, Knight, D R, Buchholz, R A, Kennedy, S P

“…The role of adenosine A1 and A3 receptors in mediating cardioprotection has been studied predominantly in rabbits, yet the pharmacological characteristics of…”
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Discovery of new piperidine amide triazolobenzodiazepinones as intestinal-selective CCK1 receptor agonists by Cameron, Kimberly O., Beretta, Elena E., Chen, Yue, Chu-Moyer, Margaret, Fernando, Dilinie, Gao, Hua, Kohrt, Jeffrey, Lavergne, Sophie, Jardine, Paul Da Silva, Guzman-Perez, Angel, Hoth, Christopher, Perry, David A., Hadcock, John R., Gautreau, Denise, Makowski, Michael, Perez, Sylvie, Polivkova, Jana, Rogers, Lucy, Scott, Dennis O., Swick, Andrew G., Thiede, Lucinda, Trebino, Catherine E., Trilles, Richard V., Wilmowski, Julie, Zhang, Yingxin

“…Compound 10e was identified as a potent CCK1 receptor agonist (IC50=20.3nM, EC50=25.4nM). Compound 10e demonstrated significant weight loss effects in an obese…”
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Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I) by Hoth, C F, Milunsky, A, Lipsky, N, Sheffer, R, Clarren, S K, Baldwin, C T

“…Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances,…”
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Expression of the Rat Adrenomedullin Receptor or a Putative Human Adrenomedullin Receptor Does Not Correlate with Adrenomedullin Binding or Functional Response by Kennedy, Scott P., Sun, Dexue, Oleynek, Joseph J., Hoth, Christopher F., Kong, Jimmy, Hill, Roger J.

“…There has been considerable difficulty in defining distinct adrenomedullin (AM) binding sites and functionin vivo.However, a rat adrenomedullin receptor (rAMR)…”
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Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium by Farrer, L A, Grundfast, K M, Amos, J, Arnos, K S, Asher, Jr, J H, Beighton, P, Diehl, S R, Fex, J, Foy, C, Friedman, T B

“…Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the ALPP locus. We pooled linkage…”
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Mutations in PAX3 associated with Waardenburg syndrome type I by Baldwin, C T, Lipsky, N R, Hoth, C F, Cohen, T, Mamuya, W, Milunsky, A

“…Waardenburg syndrome (WS) types I, II, and III (McKusick #14882, #19351, and #19350) are related autosomal dominant disorders characterized by sensorineural…”
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Locus heterogeneity for waardenburg syndrome is predictive of clinical subtypes by FARRER, L. A, ARNOS, K. S, LANDA, B, LEVERTON, K, MILUNSKY, A, MORELL, R, NANCE, W. E, NEWTON, V, RAJKUMAR RAMESAR, RAO, V. S, REYNOLDS, J. E, SAN AGUSTIN, T. B, ASHER, J. H, WILCOW, E. R, WINSHIP, I, READ, A. P, BALDWIN, C. T, DIEHL, S. R, FRIEDMAN, T. B, GREENBERG, J, GRUNDFAST, K. M, HOTH, C, LALWANI, A. K

“…Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features…”
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Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium by Farrer, Lindsay A., Grundfast, Kenneth M., Amos, Jean, Arnos, Kathleen S., Asher, James H., Beighton, Peter, Diehl, Scott R., Fex, Jörgen, Foy, Carole, Friedman, Thomas B., Greenberg, Jacquie, Hoth, Christopher, Marazita, Mary, Milunsky, Aubrey, Morell, Robert, Nance, Walter, Newton, Valerie, Ramesar, Rajkumar, Agustin, Theresa B. San, Skare, James, Stevens, Cathy A., Wagner, Ronald G., Wilcox, Edward R., Winship, Ingrid, Read, Andrew P.

“…Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the ALPP locus. We pooled linkage…”
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Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature by Baldwin, C T, Hoth, C F, Macina, R A, Milunsky, A

“…Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and…”
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