Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Authors: Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2020 Jan . 117(2), 1113-1118.

Access URL: https://www.jstor.org/stable/26896986

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

Authors: Frikstad, Kari-Anne M., Molinari, Elisa, Thoresen, Marianne, Ramsbottom, Simon A., Hughes, Frances, Letteboer, Stef J.F., Gilani, Sania, Schink, Kay O., Stokke, Trond, Geimer, Stefan, Pedersen, Lotte B., Giles, Rachel H., Akhmanova, Anna, Roepman, Ronald, Sayer, John A., Patzke, Sebastian

Source: In Cell Reports 13 August 2019 28(7):1907-1922

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

Authors: Ramsbottom, Simon A., Molinari, Elisa, Srivastava, Shalabh, Silberman, Flora, Henry, Charline, Alkanderi, Sumaya, Devlin, Laura A., White, Kathryn, Steel, David H., Saunier, Sophie, Miles, Colin G., Sayer, John A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Dec 01. 115(49), 12489-12494.

Access URL: https://www.jstor.org/stable/26573688

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

Authors: Molinari, Elisa, Ramsbottom, Simon, Srivastava, Shalabh, Booth, Philip, Alkanderi, Sumaya, McLafferty, Seamus, Devlin, Laura, White, Kathryn, Gunay-Aygun, Meral, Miles, Colin, Sayer, John

Source: Scientific reports. 9(1):1-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187144539.0x000001&indx=1&recIds=ETOCvdc_100187144539.0x000001

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Authors: Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.

Source: American journal of human genetics. 103(4):612-620

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100093375313.0x000001&indx=1&recIds=ETOCvdc_100093375313.0x000001

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

Authors: Barroso‐Gil, Miguel, Olinger, Eric, Ramsbottom, Simon A., Molinari, Elisa, Miles, Colin G., Sayer, John A.

Source: Molecular genetics & genomic medicine. 9(12)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100137128453.0x000001&indx=1&recIds=ETOCvdc_100137128453.0x000001

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

Authors: Ramsbottom, Simon A., Maguire, Richard J., Fellgett, Simon W., Pownall, Mary Elizabeth

Source: In Developmental Biology 15 July 2014 391(2):207-218

Vangl2-Regulated Polarisation of Second Heart Field-Derived Cells Is Required for Outflow Tract Lengthening during Cardiac Development.

Authors: Ramsbottom, Simon A.¹, Sharma, Vipul¹, Rhee, Hong Jun¹, Eley, Lorraine¹, Phillips, Helen M.¹, Rigby, Hannah F.¹, Dean, Charlotte^2,3, Chaudhry, Bill¹, Henderson, Deborah J.¹

Source: PLoS Genetics. Dec2014, Vol. 10 Issue 12, p1-16. 16p.

Subject Terms: *CYTOLOGICAL research, *EPITHELIUM, *CELL migration, *GENETIC mutation, *GENES

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Chapter Two - Genetics of Cardiovascular Development

Authors: Chaudhry, Bill, Ramsbottom, Simon, Henderson, Deborah J.

Source: In Progress in Molecular Biology and Translational Science 2014 124:19-41

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21-P030 The role of Sulf1 in Sonic hedgehog mediated neuronal patterning

Authors: Ramsbottom, Simon, Pownall, Mary

Source: In Mechanisms of Development August 2009 126 Supplement:S322-S322