Waddell+ SH, Yao+ Y, Olaizola P, Walker A, Jarman EJ, Gournopanos K, Gradinaru A, Christodoulou E, Gautier P, Boerrigter MM, Cadamuro M, Fabris L, Drenth JP, Kendall TJ, Banales JM, Khamseh A, Mill* P, Boulter* L. (2023) A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease. Sci Transl Med. 15(713):eabq5930. doi: 10.1126/scitranslmed.abq5930. Epub 2023 Sep 13. PMID: 37703354; PMCID: PMC7615241.
(See Research Highlight: Ray, K. Understanding remodelling of bile ducts to promote polycystic liver disease. Nat Rev Gastroenterol Hepatol 20, 759 (2023). https://doi.org/10.1038/s41575-023-00852-6)
Horani A, Gupta D, Xu J, Xu H, Puga Molina LDC, Santi CM, Ramagiri S, Brennan SK, Pan J, Koenitzer JR, Huang T, Hyland RM, Gunsten SP, Tzeng SC, Strahle JM, Mill P, Mahjoub MR, Dutcher SK, Brody SL. (2023) The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes. JCI Insight. 2023 Apr 27:e168836. doi: 10.1172/jci.insight.168836.
2023
Mill, P+, Christensen, ST+ & Pedersen, LB (2023) Primary cilia as dynamic and diverse signalling hubs in development and disease. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00587-9
Wachten, D, Mill, P. (2023). The cilia mechanosensation debate gets (bio)physical. Nature Reviews Nephrology https://doi.org/10.1038/s41581-023-00701-4 (Free access: https://rdcu.be/c7usw)
Hall, EA+, Kumar, D+, Prosser, SL, Yeyati, PL, Herranz-Pérez, V, García-Verdugo, JM, Rose, L, McKie, L, Dodd, DO, Tennant, PA, Megaw, R, Murphy, LC, Ferreira, MF, Grimes,G, Williams, L, Tooba Quidwai, T, Pelletier, L, Reiter*, JF, Mill*, P. (2023) Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis. eLife 12:e79299 https://doi.org/10.7554/eLife.79299
2022
Younger NT+, Wilson ML+, Martinez Lyons A, Jarman EJ, Meynert AM, Grimes GR, Gournopanos K, Waddell SH, Tennant PA, Wilson DH, Guest RV, Wigmore SJ, Acosta JC, Kendall TJ, Taylor MS, Sproul D, Mill P, Boulter L. In vivo modeling of patient genetic heterogeneity identifies new ways to target cholangiocarcinoma. Cancer Res. 2022 Jan 24:canres.CAN-21-2556-A.2021. doi: 10.1158/0008-5472.CAN-21-2556. Epub ahead of print. PMID: 35074757.
2021
Quidwai, T, Wang, J, Hall, EA, Petriman, NA, Leng, W, Kiesel, P, Wells, JN, Murphy, L, Keighren, MA, Marsh, JA, Lorentzen, E, Pigino, G, Mill, P. (2021) A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia. eLife 2021;10:e69786 doi: 10.7554/eLife.69786
Haward, F+, Maslon, MM+, Yeyati, PL+, Bellora, N, Hansen, J, Aitken, S, Lawson, J, von Kriegsheim, Wachten, D, Mill,P*, Adams, IR*, Cáceres, JR*. (2021) Nucleo-cytoplasmic shuttling of splicing factor SRSF1 is required for development and cilia function. eLife 2021;10:e65104 doi: 10.7554/eLife.65104
Van Kerckvoorde M, Ford MJ, Yeyati PL, Mill P, Mort RL. (2021) Live Imaging and Analysis of Cilia and Cell Cycle Dynamics with the Arl13bCerulean-Fucci2a Biosensor and Fucci Tools. Methods Mol Biol. 2021;2329:291-309. doi: 10.1007/978-1-0716-1538-6_21. PMID: 34085231
2020
Gardner LE, Horton KL, Shoemark A, Lucas JS, Nielsen KG, Kobbernagel H, Rubbo B, Hirst RA, Kouis P, Ullmann N, Reula A, Rumman N, Mitchison HM, Pinto A, Richardson C, Schmidt A, Thompson J, Gaupmann R, Dabrowski M, Mill P, Carr SB, Norris DP, Kuehni CE, Goutaki M, Hogg C. (2020) Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School. BMC Proceedings. 2020 Jun 19;14(Suppl 8):7. doi: 10.1186/s12919-020-00191-3.
2018
Ford, MJ, Yeyati, PL, Mali,GR, Keighren, MA, Waddell, SH, Mjoseng, HK, Douglas, AT, Hall, EA, Sakaue-Sawano, A, Miyawaki, A, Meehan, RR, Boulter, L, Jackson, IJ, Mill, P, Mort, RL. (2018) A cell/cilia cycle biosensor for single cell kinetics reveals persistence of cilia after G1/S transition is a general property in cells and mice. Developmental Cell 47:403-429. DOI:https://doi.org/10.1016/j.devcel.2018.10.027
Mali, GR, Yeyati, PL, Mizuno, S, Dodd, DO, Tennant, PA, Keighren, MA, Zur Lage, P, Shoemark, A, Garcia-Munoz, A, Shimada, A, Takeda, H, Edlich, F, Takahashi, S, von Kreisheim, A, Jarman, AP, Mill, P. (2018) ZMYND10 functions in a chaperone relay during axonemal dynein assembly. eLIFE, vol. 7. DOI: 10.7554/eLife.34389
zur Lage, P, Stefanopoulou, P, Styczynska, K, Quinn, N, Mali, G, Von Kriegsheim, A, Mill, P, Jarman, A. (2018) Ciliary dynein motor preassembly is regulated by Wdr92 in association with HSP90 co-chaperone, R2TP. The Journal of Cell Biology. DOI: 10.1083/jcb.201709026
2017
Megaw, R, Abu-Arafeh, H, Jungnickel, M, Mellough, C, Gurniak-Witke, C, Witke, W, Zhang, W, Khanna, H, Mill, P, Dhillon, B, Wright, AF, Lako, M, Ffrench-Constant, C. (2017) Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell- and animal retinitis pigmentosa models. Nature Communications. DOI: 10.1038/s41467-017-00111-8
Hall, EA, Nahorski, MS, Murray, LM, Shaheen, R, Perkins, E, Dissanayake, KN, Kristaryanto, Y, Jones, R, Vogt, J, Rivagorda, M, Handley, MT, Mali, GR, Quidwai, T, Soares, DC, Keighren, MA, Mckie, L, Mort, RL, Gammoh, N, Garcia-munoz, A, Davey, T, Vermeren, M, Walsh, D, Budd, P, Aligianis, IA, Faqeih, E, Quigley, AJ, Jackson, IJ, Kulathu, Y, Jackson, M, Ribchester, RR, Von Kriegsheim, A, Alkuraya, FS, Woods, CG, Maher, ER, Mill, P. (2017) PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2017.03.008
Yeyati, P, Schiller, R, Mali, G, Kasioulis, I, Kawamura, A, Adams, I, Playfoot, C, Gilbert, N, van Heyningen, V, Wills, J, Von Kriegsheim, A, Finch, A, Sakai, J, Schofield, CJ, Jackson, I, Mill, P. (2017) KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability. The Journal of Cell Biology, vol. 216, no. 4, pp. 999-1013. DOI: 10.1083/jcb.201607032, 10.1083/jcb.201607032
2015
Stephen, LA, Tawamie, H, Davis, GM, Tebbe, L, Nürnberg, P, Nürnberg, G, Thiele, H, Thoenes, M, Boltshauser, E, Uebe, S, Rompel, O, Reis, A, Ekici, AB, McTeir, L, Fraser, AM, Hall, E, Mill, P, Daudet, N, Cross, C, Wolfrum, U, Jamra, RA, Davey, MG, Bolz, HJ. (2015) TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). eLIFE, vol. 4, no. September. DOI: 10.7554/eLife.08077
Caparrós-Martín, JA, De Luca, A, Cartault, F, Aglan, M, Temtamy, S, Otaify, GA, Mehrez, M, Valencia, M, Vázquez, L, Alessandri, J-L, Nevado, J, Rueda-Arenas, I, Heath, KE, Digilio, MC, Dallapiccola, B, Goodship, JA, Mill, P, Lapunzina, P, Ruiz-Perez, VL. (2015) Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Human Molecular Genetics. DOI: 10.1093/hmg/ddv152
Diggle, CP, Moore, DJ, Mali, G, Zur Lage, P, Ait-Lounis, A, Schmidts, M, Shoemark, A, Garcia Munoz, A, Halachev, MR, Gautier, P, Yeyati, PL, Bonthron, DT, Carr, IM, Hayward, B, Markham, AF, Hope, JE, Von Kriegsheim, A, Mitchison, HM, Jackson, IJ, Durand, B, Reith, W, Sheridan, E, Jarman, AP, Mill, P. (2014) HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. PLoS Genetics, vol. 10, no. 9, e1004577. DOI: 10.1371/journal.pgen.1004577
2014
Hall, E, Keighren, M, Ford, MJ, Davey, T, Jarman, AP, Smith, LB, Jackson, IJ, Mill, P. (2013) Acute Versus Chronic Loss of Mammalian Azi1/Cep131 Results in Distinct Ciliary Phenotypes. PLoS Genetics, vol. 9, no. 12, e1003928. DOI: 10.1371/journal.pgen.1003928
2013
Reijns, MAM, Rabe, B, Rigby, RE, Mill, P, Astell, KR, Lettice, LA, Boyle, S, Leitch, A, Keighren, M, Kilanowski, F, Devenney, PS, Sexton, D, Grimes, G, Holt, IJ, Hill, RE, Taylor, MS, Lawson, KA, Dorin, JR, Jackson, AP. (2012) 'Enzymatic removal of ribonucleotides from DNA is essential for Mammalian genome integrity and development' Cell, vol. 149, no. 5, pp. 1008-22. DOI: 10.1016/j.cell.2012.04.011
2012
Mill, P, Lockhart, PJ, Fitzpatrick, E, Mountford, HS, Hall, E, Reijns, MAM, Keighren, M, Bahlo, M, Bromhead, CJ, Budd, P, Aftimos, S, Delatycki, MB, Savarirayan, R, Jackson, IJ, Amor, DJ. (2011) 'Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis' American Journal of Human Genetics, vol. 88, no. 4, pp. 508-15. DOI: 10.1016/j.ajhg.2011.03.015