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Items: 25

1.

Insulin resistance in cavefish as an adaptation to a nutrient-limited environment.

Riddle MR, Aspiras AC, Gaudenz K, Peuß R, Sung JY, Martineau B, Peavey M, Box AC, Tabin JA, McGaugh S, Borowsky R, Tabin CJ, Rohner N.

Nature. 2018 Mar 29;555(7698):647-651. doi: 10.1038/nature26136. Epub 2018 Mar 21.

2.

Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome.

Xu B, Gogol M, Gaudenz K, Gerton JL.

BMC Genomics. 2016 Jan 5;17:25. doi: 10.1186/s12864-015-2354-y.

3.

Analysis of dynamic changes in retinoid-induced transcription and epigenetic profiles of murine Hox clusters in ES cells.

De Kumar B, Parrish ME, Slaughter BD, Unruh JR, Gogol M, Seidel C, Paulson A, Li H, Gaudenz K, Peak A, McDowell W, Fleharty B, Ahn Y, Lin C, Smith E, Shilatifard A, Krumlauf R.

Genome Res. 2015 Aug;25(8):1229-43. doi: 10.1101/gr.184978.114. Epub 2015 May 29.

4.

Piwi is required in multiple cell types to control germline stem cell lineage development in the Drosophila ovary.

Ma X, Wang S, Do T, Song X, Inaba M, Nishimoto Y, Liu LP, Gao Y, Mao Y, Li H, McDowell W, Park J, Malanowski K, Peak A, Perera A, Li H, Gaudenz K, Haug J, Yamashita Y, Lin H, Ni JQ, Xie T.

PLoS One. 2014 Mar 21;9(3):e90267. doi: 10.1371/journal.pone.0090267. eCollection 2014.

5.

Notch2 regulates BMP signaling and epithelial morphogenesis in the ciliary body of the mouse eye.

Zhou Y, Tanzie C, Yan Z, Chen S, Duncan M, Gaudenz K, Li H, Seidel C, Lewis B, Moran A, Libby RT, Kiernan AE, Xie T.

Proc Natl Acad Sci U S A. 2013 May 28;110(22):8966-71. doi: 10.1073/pnas.1218145110. Epub 2013 May 15.

6.

Poised RNA polymerase II changes over developmental time and prepares genes for future expression.

Gaertner B, Johnston J, Chen K, Wallaschek N, Paulson A, Garruss AS, Gaudenz K, De Kumar B, Krumlauf R, Zeitlinger J.

Cell Rep. 2012 Dec 27;2(6):1670-83. doi: 10.1016/j.celrep.2012.11.024. Epub 2012 Dec 20.

7.

Defective FGF signaling causes coloboma formation and disrupts retinal neurogenesis.

Chen S, Li H, Gaudenz K, Paulson A, Guo F, Trimble R, Peak A, Seidel C, Deng C, Furuta Y, Xie T.

Cell Res. 2013 Feb;23(2):254-73. doi: 10.1038/cr.2012.150. Epub 2012 Nov 13.

8.

Delayed correlation of mRNA and protein expression in rapamycin-treated cells and a role for Ggc1 in cellular sensitivity to rapamycin.

Fournier ML, Paulson A, Pavelka N, Mosley AL, Gaudenz K, Bradford WD, Glynn E, Li H, Sardiu ME, Fleharty B, Seidel C, Florens L, Washburn MP.

Mol Cell Proteomics. 2010 Feb;9(2):271-84. doi: 10.1074/mcp.M900415-MCP200. Epub 2009 Nov 10.

9.

N-cadherin expression level distinguishes reserved versus primed states of hematopoietic stem cells.

Haug JS, He XC, Grindley JC, Wunderlich JP, Gaudenz K, Ross JT, Paulson A, Wagner KP, Xie Y, Zhu R, Yin T, Perry JM, Hembree MJ, Redenbaugh EP, Radice GL, Seidel C, Li L.

Cell Stem Cell. 2008 Apr 10;2(4):367-79. doi: 10.1016/j.stem.2008.01.017.

10.

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey JP, Glynn EF, Ellington L, Du C, Dixon J, Dixon MJ, Trainor PA.

Nat Med. 2008 Feb;14(2):125-33. doi: 10.1038/nm1725. Epub 2008 Feb 3.

11.

Transcription alters chromosomal locations of cohesin in Saccharomyces cerevisiae.

Bausch C, Noone S, Henry JM, Gaudenz K, Sanderson B, Seidel C, Gerton JL.

Mol Cell Biol. 2007 Dec;27(24):8522-32. Epub 2007 Oct 8.

12.

Wingless directly represses DPP morphogen expression via an armadillo/TCF/Brinker complex.

Theisen H, Syed A, Nguyen BT, Lukacsovich T, Purcell J, Srivastava GP, Iron D, Gaudenz K, Nie Q, Wan FY, Waterman ML, Marsh JL.

PLoS One. 2007 Jan 3;2(1):e142.

13.

A complex oscillating network of signaling genes underlies the mouse segmentation clock.

Dequéant ML, Glynn E, Gaudenz K, Wahl M, Chen J, Mushegian A, Pourquié O.

Science. 2006 Dec 8;314(5805):1595-8. Epub 2006 Nov 9.

15.

Twisted gastrulation is a conserved extracellular BMP antagonist.

Ross JJ, Shimmi O, Vilmos P, Petryk A, Kim H, Gaudenz K, Hermanson S, Ekker SC, O'Connor MB, Marsh JL.

Nature. 2001 Mar 22;410(6827):479-83.

PMID:
11260716
16.

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M.

Am J Hum Genet. 1998 Sep;63(3):703-10. Erratum in: Am J Hum Genet 1998 Nov;63(5):1571.

17.

Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.

Gaudenz K, Roessler E, Vainikka S, Alitalo K, Muenke M.

Mol Genet Metab. 1998 May;64(1):76-9.

PMID:
9682222
18.

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M.

Hum Genet. 1998 Apr;102(4):387-92. Review.

PMID:
9600232
19.

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M.

J Pediatr. 1998 Apr;132(4):714-6.

PMID:
9580776
20.

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A.

Nat Genet. 1997 Nov;17(3):285-91.

PMID:
9354791
21.

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M.

Hum Mol Genet. 1997 Oct;6(11):1847-53.

PMID:
9302262
22.

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.

Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M.

Hum Genet. 1997 Aug;100(2):172-81.

PMID:
9254845
23.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al.

Am J Hum Genet. 1997 Mar;60(3):555-64.

24.

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M.

Nat Genet. 1996 Nov;14(3):357-60.

PMID:
8896572
25.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M.

Nat Genet. 1996 Oct;14(2):174-6.

PMID:
8841188

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