Works matching AU Mill, Pleasantine

Results: 18

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59165-8

By:

Newton, Fay;
Halachev, Mihail;
Nguyen, Linda;
McKie, Lisa;
Mill, Pleasantine;
Megaw, Roly

Publication type:

Article

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59165-8

By:

Newton, Fay;
Halachev, Mihail;
Nguyen, Linda;
McKie, Lisa;
Mill, Pleasantine;
Megaw, Roly

Publication type:

Article

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 354, doi. 10.1007/s00335-025-10114-2

By:

Twigg, Stephen R. F.;
Greene, Nicholas D. E.;
Henderson, Deborah J.;
Mill, Pleasantine;
Liu, Karen J.

Publication type:

Article

Notch1 functions as a tumor suppressor in mouse skin.

Published in:

Nature Genetics, 2003, v. 33, n. 3, p. 416, doi. 10.1038/ng1099

By:

Nicolas, Michael;
Wolfer, Anita;
Raj, Kenneth;
Kummer, J. Alain;
Mill, Pleasantine;
van Noort, Mascha;
Hui, Chi-chung;
Clevers, Hans;
Dotto, G. Paolo;
Radtke, Freddy

Publication type:

Article

A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia.

Published in:

eLife, 2022, p. 1, doi. 10.7554/eLife.69786

By:

Quidwai, Tooba;
Jiaolong Wang;
Hall, Emma A.;
Petriman, Narcis A.;
Weihua Leng;
Kiesel, Petra;
Wells, Jonathan N.;
Murphy, Laura C.;
Keighren, Margaret A.;
Marsh, Joseph A.;
Lorentzen, Esben;
Pigino, Gaia;
Mill, Pleasantine

Publication type:

Article

Nucleo-cytoplasmic shuttling of splicing factor SRSF1 is required for development and cilia function.

Published in:

eLife, 2021, p. 1, doi. 10.7554/eLife.65104

By:

Haward, Fiona;
Maslon, Magdalena M.;
Yeyati, Patricia L.;
Bellora, Nicolas;
Hansen, Jan N.;
Aitken, Stuart;
Lawson, Jennifer;
von Kriegsheim, Alex;
Wachten, Dagmar;
Mill, Pleasantine;
Adams, Ian R.;
Caceres, Javier F.

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4126, doi. 10.1093/hmg/ddv152

By:

Caparrós-Martín, José A.;
De Luca, Alessandro;
Cartault, François;
Aglan, Mona;
Temtamy, Samia;
Otaify, Ghada A.;
Mehrez, Mennat;
Valencia, María;
Vázquez, Laura;
Alessandri, Jean-Luc;
Nevado, Julián;
Rueda-Arenas, Inmaculada;
Heath, Karen E.;
Digilio, Maria Cristina;
Dallapiccola, Bruno;
Goodship, Judith A.;
Mill, Pleasantine;
Lapunzina, Pablo;
Ruiz-Perez, Victor L.

Publication type:

Article

A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease.

Published in:

Science Translational Medicine, 2023, v. 15, n. 713, p. 1, doi. 10.1126/scitranslmed.abq5930

By:

Waddell, Scott H.;
Yao, Yuelin;
Olaizola, Paula;
Walker, Alexander;
Jarman, Edward J.;
Gournopanos, Konstantinos;
Gradinaru, Andreea;
Christodoulou, Ersi;
Gautier, Philippe;
Boerrigter, Melissa M.;
Cadamuro, Massimiliano;
Fabris, Luca;
Drenth, Joost PH;
Kendall, Timothy J.;
Banales, Jesus M.;
Khamseh, Ava;
Mill, Pleasantine;
Boulter, Luke

Publication type:

Article

Cbl-3-Deficient Mice Exhibit Normal Epithelial Development.

Published in:

Molecular & Cellular Biology, 2003, v. 23, n. 21, p. 7708, doi. 10.1128/MCB.23.21.7708-7718.2003

By:

Griffiths, Emily K.;
Sanchez, Otto;
Mill, Pleasantine;
Krawczyk, Connie;
Hojilla, Carlo V.;
Rubin, Evelyn;
Nau, Marion M.;
Khokha, Rama;
Lipkowitz, Stan;
Chi-chung Hui;
Penninger, Josef M.

Publication type:

Article

Ciliary dynein motor preassembly is regulated by Wdr92 in association with HSP90 co-chaperone, R2TP.

Published in:

Journal of Cell Biology, 2018, v. 217, n. 7, p. 2593, doi. 10.1083/jcb.201709026

By:

Lage, Petra Zur;
Stefanopoulou, Panagiota;
Styczynska-Soczka, Katarzyna;
Quinn, Niall;
Mali, Girish;
Von Kriegsheim, Alex;
Mill, Pleasantine;
Jarman, Andrew P.

Publication type:

Article

KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability.

Published in:

Journal of Cell Biology, 2017, v. 216, n. 4, p. 999, doi. 10.1083/jcb.201607032

By:

Yeyati, Patricia L.;
Schiller, Rachel;
Mali, Girish;
Kasioulis, Ioannis;
Kawamura, Akane;
Adams, Ian R.;
Playfoot, Christopher;
Gilbert, Nick;
van Heyningen, Veronica;
Wills, Jimi;
von Kriegsheim, Alex;
Finch, Andrew;
Sakai, Juro;
Schofield, Christopher J.;
Jackson, Ian J.;
Mill, Pleasantine

Publication type:

Article

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School.

Published in:

BMC Proceedings, 2020, v. 14, p. 1, doi. 10.1186/s12919-020-00191-3

By:

Gardner, Laura E.;
Horton, Katie L.;
Shoemark, Amelia;
Lucas, Jane S.;
Nielsen, Kim G.;
Kobbernagel, Helene;
Rubbo, Bruna;
Hirst, Robert A.;
Kouis, Panayiotis;
Ullmann, Nicola;
Reula, Ana;
Rumman, Nisreen;
Mitchison, Hannah M.;
Pinto, Andreia;
Richardson, Charlotte;
Schmidt, Anne;
Thompson, James;
Gaupmann, René;
Dabrowski, Maciej;
Mill, Pleasantine

Publication type:

Article

Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.79299

By:

Hall, Emma A.;
Kumar, Dhivya;
Prosser, Suzanna L.;
Yeyati, Patricia L.;
Herranz-Pérez, Vicente;
García-Verdugo, Jose Manuel;
Rose, Lorraine;
McKie, Lisa;
Dodd, Daniel O.;
Tennant, Peter A.;
Megaw, Roly;
Murphy, Laura C.;
Ferreira, Marisa F.;
Grimes, Graeme;
Williams, Lucy;
Quidwai, Tooba;
Pelletier, Laurence;
Reiter, Jeremy F.;
Mill, Pleasantine

Publication type:

Article

Ciliary tip actin dynamics regulate photoreceptor outer segment integrity.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48639-w

By:

Megaw, Roly;
Moye, Abigail;
Zhang, Zhixian;
Newton, Fay;
McPhie, Fraser;
Murphy, Laura C.;
McKie, Lisa;
He, Feng;
Jungnickel, Melissa K.;
von Kriegsheim, Alex;
Tennant, Peter A.;
Brotherton, Chloe;
Gurniak, Christine;
Gross, Alecia K.;
Machesky, Laura M.;
Wensel, Theodore G.;
Mill, Pleasantine

Publication type:

Article

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.

Published in:

Pediatric Pulmonology, 2024, v. 59, n. 12, p. 3322, doi. 10.1002/ppul.27200

By:

Black, Holly A.;
de Proce, Sophie Marion;
Campos, Jose L.;
Meynert, Alison;
Halachev, Mihail;
Marsh, Joseph A.;
Hirst, Robert A.;
O'Callaghan, Chris;
Shoemark, Amelia;
Toddie‐Moore, Daniel;
Santoyo‐Lopez, Javier;
Murray, Jennie;
Macleod, Kenneth;
Urquhart, Don S.;
Unger, Stefan;
Aitman, Timothy J.;
Mill, Pleasantine

Publication type:

Article

A dermal niche for multipotent adult skin-derived precursor cells.

Published in:

Nature Cell Biology, 2004, v. 6, n. 11, p. 1082, doi. 10.1038/ncb1181

By:

Fernandes, Karl J. L.;
McKenzie, Ian A.;
Mill, Pleasantine;
Smith, Kristen M.;
Akhavan, Mahnaz;
Barnabé-Heider, Fanie;
Biernaskie, Jeff;
Junek, Adrienne;
Kobayashi, Nao R.;
Toma, Jean G.;
Kaplan, David R.;
Labosky, Patricia A.;
Rafuse, Victor;
Chi-Chung Hui;
Miller, Freda D.

Publication type:

Article

Acute Versus Chronic Loss of Mammalian <i>Azi1/Cep131</i> Results in Distinct Ciliary Phenotypes.

Published in:

PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003928

By:

Hall, Emma A.;
Keighren, Margaret;
Ford, Matthew J.;
Davey, Tracey;
Jarman, Andrew P.;
Smith, Lee B.;
Jackson, Ian J.;
Mill, Pleasantine

Publication type:

Article

Palmitoylation Regulates Epidermal Homeostasis and Hair Follicle Differentiation.

Published in:

PLoS Genetics, 2009, v. 5, n. 11, p. 1, doi. 10.1371/journal.pgen.1000748

By:

Mill, Pleasantine;
Lee, Angela W. S.;
Yuko Fukata;
Tsutsumi, Ryouhei;
Fukata, Masaki;
Keighren, Margaret;
Porter, Rebecca M.;
McKie, Lisa;
Smyth, Ian;
Jackson, Ian J.

Publication type:

Article