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Items: 17

1.

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.

Frikstad KM, Molinari E, Thoresen M, Ramsbottom SA, Hughes F, Letteboer SJF, Gilani S, Schink KO, Stokke T, Geimer S, Pedersen LB, Giles RH, Akhmanova A, Roepman R, Sayer JA, Patzke S.

Cell Rep. 2019 Aug 13;28(7):1907-1922.e6. doi: 10.1016/j.celrep.2019.07.025.

2.

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.

Molinari E, Ramsbottom SA, Srivastava S, Booth P, Alkanderi S, McLafferty SM, Devlin LA, White K, Gunay-Aygun M, Miles CG, Sayer JA.

Sci Rep. 2019 Jul 25;9(1):10828. doi: 10.1038/s41598-019-47243-z.

3.

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes.

Molinari E, Ramsbottom SA, Sammut V, Hughes FEP, Sayer JA.

Version 2. F1000Res. 2018 Jul 25 [revised 2018 Jan 1];7:1133. doi: 10.12688/f1000research.15511.2. eCollection 2018.

4.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, Devlin LA, White K, Steel DH, Saunier S, Miles CG, Sayer JA.

Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):12489-12494. doi: 10.1073/pnas.1809432115. Epub 2018 Nov 16.

5.

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA.

Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27.

6.

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.

Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA.

Eur J Hum Genet. 2018 Dec;26(12):1791-1796. doi: 10.1038/s41431-018-0212-5. Epub 2018 Jul 12.

7.

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Srivastava S, Ramsbottom SA, Molinari E, Alkanderi S, Filby A, White K, Henry C, Saunier S, Miles CG, Sayer JA.

Hum Mol Genet. 2017 Dec 1;26(23):4657-4667. doi: 10.1093/hmg/ddx347.

8.

From disease modelling to personalised therapy in patients with CEP290 mutations.

Molinari E, Srivastava S, Sayer JA, Ramsbottom SA.

F1000Res. 2017 May 12;6:669. doi: 10.12688/f1000research.11553.1. eCollection 2017.

9.

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.

Edwards N, Olinger E, Adam J, Kelly M, Schiano G, Ramsbottom SA, Sandford R, Devuyst O, Sayer JA.

Nephrol Dial Transplant. 2017 Dec 1;32(12):1994-1999. doi: 10.1093/ndt/gfx066.

10.

Regulation of Hedgehog Signalling Inside and Outside the Cell.

Ramsbottom SA, Pownall ME.

J Dev Biol. 2016 Jul 20;4(3):23.

11.

Using Confocal Analysis of Xenopus laevis to Investigate Modulators of Wnt and Shh Morphogen Gradients.

Fellgett SW, Ramsbottom SA, Maguire RJ, Cross S, O'Toole P, Pownall ME.

J Vis Exp. 2015 Dec 14;(106):e53162. doi: 10.3791/53162.

12.

Vangl2-regulated polarisation of second heart field-derived cells is required for outflow tract lengthening during cardiac development.

Ramsbottom SA, Sharma V, Rhee HJ, Eley L, Phillips HM, Rigby HF, Dean C, Chaudhry B, Henderson DJ.

PLoS Genet. 2014 Dec 18;10(12):e1004871. doi: 10.1371/journal.pgen.1004871. eCollection 2014 Dec.

13.

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium.

Boczonadi V, Gillespie R, Keenan I, Ramsbottom SA, Donald-Wilson C, Al Nazer M, Humbert P, Schwarz RJ, Chaudhry B, Henderson DJ.

Cardiovasc Res. 2014 Oct 1;104(1):103-15. doi: 10.1093/cvr/cvu193. Epub 2014 Aug 18.

14.

Sulf1 influences the Shh morphogen gradient during the dorsal ventral patterning of the neural tube in Xenopus tropicalis.

Ramsbottom SA, Maguire RJ, Fellgett SW, Pownall ME.

Dev Biol. 2014 Jul 15;391(2):207-18. doi: 10.1016/j.ydbio.2014.04.010. Epub 2014 Apr 24.

15.

Lin28 proteins are required for germ layer specification in Xenopus.

Faas L, Warrander FC, Maguire R, Ramsbottom SA, Quinn D, Genever P, Isaacs HV.

Development. 2013 Mar;140(5):976-86. doi: 10.1242/dev.089797. Epub 2013 Jan 23.

16.

Gsx transcription factors repress Iroquois gene expression.

Winterbottom EF, Ramsbottom SA, Isaacs HV.

Dev Dyn. 2011 Jun;240(6):1422-9. doi: 10.1002/dvdy.22648. Epub 2011 Apr 29.

17.

Cyclin E is recruited to the nuclear matrix during differentiation, but is not recruited in cancer cells.

Munkley J, Copeland NA, Moignard V, Knight JR, Greaves E, Ramsbottom SA, Pownall ME, Southgate J, Ainscough JF, Coverley D.

Nucleic Acids Res. 2011 Apr;39(7):2671-7. doi: 10.1093/nar/gkq1190. Epub 2010 Nov 24.

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