Woolf AS - Search Results

1

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

Ferrante MI, Romio L, Castro S, Collins JE, Goulding DA, Stemple DL, Woolf AS, Wilson SW. Ferrante MI, et al. Among authors: woolf as. Hum Mol Genet. 2009 Jan 15;18(2):289-303. doi: 10.1093/hmg/ddn356. Epub 2008 Oct 29. Hum Mol Genet. 2009. PMID: 18971206 Free PMC article.

2

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA. Romio L, et al. Among authors: woolf as. J Am Soc Nephrol. 2003 Mar;14(3):680-9. doi: 10.1097/01.asn.0000054497.48394.d2. J Am Soc Nephrol. 2003. PMID: 12595504

3

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA. Romio L, et al. Among authors: woolf as. J Am Soc Nephrol. 2004 Oct;15(10):2556-68. doi: 10.1097/01.ASN.0000140220.46477.5C. J Am Soc Nephrol. 2004. PMID: 15466260

4

The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation.

Yates LL, Papakrivopoulou J, Long DA, Goggolidou P, Connolly JO, Woolf AS, Dean CH. Yates LL, et al. Among authors: woolf as. Hum Mol Genet. 2010 Dec 1;19(23):4663-76. doi: 10.1093/hmg/ddq397. Epub 2010 Sep 14. Hum Mol Genet. 2010. PMID: 20843830 Free PMC article.

5

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

Lopes CA, Prosser SL, Romio L, Hirst RA, O'Callaghan C, Woolf AS, Fry AM. Lopes CA, et al. Among authors: woolf as. J Cell Sci. 2011 Feb 15;124(Pt 4):600-12. doi: 10.1242/jcs.077156. Epub 2011 Jan 25. J Cell Sci. 2011. PMID: 21266464 Free PMC article.

6

Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

Pitera JE, Scambler PJ, Woolf AS. Pitera JE, et al. Among authors: woolf as. Hum Mol Genet. 2008 Dec 15;17(24):3953-64. doi: 10.1093/hmg/ddn297. Epub 2008 Sep 11. Hum Mol Genet. 2008. PMID: 18787044 Free PMC article.

7

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study; Woolf AS, Banka S. Cuvertino S, et al. Among authors: woolf as. Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006. Am J Hum Genet. 2017. PMID: 29220674 Free PMC article.

8

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.

Roberts NA, Woolf AS, Stuart HM, Thuret R, McKenzie EA, Newman WG, Hilton EN. Roberts NA, et al. Among authors: woolf as. Hum Mol Genet. 2014 Aug 15;23(16):4302-14. doi: 10.1093/hmg/ddu147. Epub 2014 Apr 1. Hum Mol Genet. 2014. PMID: 24691552 Free PMC article.

9

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F. Vivante A, et al. Among authors: woolf as. Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235987 Free PMC article.

10

Haploinsufficiency of the mouse Tshz3 gene leads to kidney defects.

Sanchez-Martin I, Magalhães P, Ranjzad P, Fatmi A, Richard F, Manh TPV, Saurin AJ, Feuillet G, Denis C, Woolf AS, Schanstra JP, Zürbig P, Caubit X, Fasano L. Sanchez-Martin I, et al. Among authors: woolf as. Hum Mol Genet. 2022 Jun 22;31(12):1921-1945. doi: 10.1093/hmg/ddab362. Hum Mol Genet. 2022. PMID: 34919690

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