Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

Authors: Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso‐Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian J., Cordell, Heather J., Olinger, Eric, Miles, Colin G., Sayer, John A., Wheway, Gabrielle, Lucas, Jane S.

Source: Clinical genetics. 103(3):330-334

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173053871.0x000001&indx=1&recIds=ETOCvdc_100173053871.0x000001

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

Authors: Devane, John, Ott, Elisabeth, Olinger, Eric G., Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J., Rice, Sarah J., Miles, Colin G., Wood, Katrina, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A., Bergmann, Carsten

Source: American journal of human genetics. 109(5):928-943

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163384405.0x000001&indx=1&recIds=ETOCvdc_100163384405.0x000001

An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division.

Authors: Dalgliesh, Caroline, Aldalaqan, Saad, Atallah, Christian, Best, Andrew, Scott, Emma, Ehrmann, Ingrid, Merces, George, Mannion, Joel, Badurova, Barbora, Sandher, Raveen, Illing, Ylva, Wirth, Brunhilde, Wells, Sara, Codner, Gemma, Teboul, Lydia, Smith, Graham R, Hedley, Ann, Herbert, Mary, de Rooij, Dirk G, Miles, Colin

Source: EMBO Journal; Feb2025, Vol. 44 Issue 3, p877-902, 26p

Subject Terms: ALTERNATIVE RNA splicing, LIFE sciences, CYTOLOGY, POISONS, GENETIC engineering, RNA splicing

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

Authors: Olinger, Eric, Alawi, Intisar Al, Al Riyami, Mohammed S., Salmi, Isa Al, Molinari, Elisa, Faqeih, Eissa Ali, Al‐Hamed, Mohamed H., Barroso‐Gil, Miguel, Powell, Laura, Al‐Hussaini, Abdulrahman A., Rahim, Khawla A., Almontashiri, Naif A. M., Miles, Colin, Shril, Shirlee, Hildebrandt, Friedhelm, Consortium, Genomics England Research, Wilson, Ian J., Sayer, John A.

Source: Human mutation. 42(10):1221-1228

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128936300.0x000001&indx=1&recIds=ETOCvdc_100128936300.0x000001

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

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

Population pharmacokinetics and exposure–overall survival analysis of the transforming growth factor-β inhibitor galunisertib in patients with pancreatic cancer

Authors: Gueorguieva, Ivelina, Tabernero, Josep, Melisi, Davide, Macarulla, Teresa, Merz, Valeria, Waterhouse, Timothy H., Miles, Colin, Lahn, Michael M., Cleverly, Ann, Benhadji, Karim A.

Source: Cancer chemotherapy and pharmacology. 84(5):1003-1015

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125511840.0x000001&indx=1&recIds=ETOCvdc_100125511840.0x000001

A Zinc Finger Truncation of Murine WT1 Results in the Characteristic Urogenital Abnormalities of Denys-Drash Syndrome

Authors: Patek, Charles E., Little, Melissa H., Fleming, Stewart, Miles, Colin, Charlieu, Jean-Paul, Clarke, Alan R., Miyagawa, Kiyoshi, Christie, Sheila, Doig, Jennifer, Harrison, David J., Porteous, David J., Brookes, Anthony J., Hooper, Martin L., Hastie, Nicholas D.

Source: Proceedings of the National Academy of Sciences of the United States of America, 1999 Mar . 96(6), 2931-2936.

Access URL: https://www.jstor.org/stable/47466

Complete Sequencing of the Fugu WAGR Region from WT1 to PAX6: Dramatic Compaction and Conservation of Synteny with Human Chromosome 11p13

Authors: Miles, Colin, Elgar, Greg, Coles, Edward, Kleinjan, Dirk-Jan, Van Heyningen, Veronica, Hastie, Nicholas

Source: Proceedings of the National Academy of Sciences of the United States of America, 1998 Oct . 95(22), 13068-13072.

Access URL: https://www.jstor.org/stable/46196

Disposition and metabolism of [14C]-galunisertib, a TGF-βRI kinase/ALK5 inhibitor, following oral administration in healthy subjects and mechanistic prediction of the effect of itraconazole on galunisertib pharmacokinetics

Authors: Cassidy, Kenneth C., Gueorguieva, Ivelina, Miles, Colin, Rehmel, Jessica, Yi, Ping, Ehlhardt, William J.

Source: Xenobiotica. 48(4):382-399

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100103790114.0x000001&indx=1&recIds=ETOCvdc_100103790114.0x000001

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

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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

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

Authors: Hynes, Ann Marie, Giles, Rachel H., Srivastava, Shalabh, Eley, Lorraine, Whitehead, Jennifer, Danilenko, Marina, Raman, Shreya, Slaats, Gisela G., Colville, John G., Ajzenberg, Henry, Kroes, Hester Y., Thelwall, Peter E., Simmons, Nicholas L., Miles, Colin G., Sayer, John A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2014 Jul 01. 111(27), 9893-9898.

Access URL: https://www.jstor.org/stable/23802683

Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues.

Authors: Singh, Parmveer, Lanman, Nadia A., Kendall, Hannah L. R., Wilson, Laura, Ryan Long, Franco, Omar E., Buskin, Adriana, Miles, Colin G., Hayward, Simon W., Heer, Rakesh, Robson, Craig N.

Source: Development (09501991); Jul2023, Vol. 150 Issue 13, p1-11, 11p

Subject Terms: PROSTATE, PLURIPOTENT stem cells, SEMINAL vesicles, PROSTATE diseases, RODENTS, CELLULAR signal transduction

Specific Ablation of Human Immunodeficiency Virus Tat-Expressing Cells by Conditionally Toxic Retroviruses

Authors: Miles, Colin G., Pennington, Daniel J., Dzierzak, Elaine A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 1994 Jan 01. 91(1), 365-369.

Access URL: https://www.jstor.org/stable/2363801

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