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Page 1
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis.
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, Quidwai T, Pelletier L, Reiter JF, Mill P. Hall EA, et al. Elife. 2023 Feb 15;12:e79299. doi: 10.7554/eLife.79299. Elife. 2023. PMID: 36790165 Free PMC article.
A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease.
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. Waddell SH, et al. Sci Transl Med. 2023 Sep 13;15(713):eabq5930. doi: 10.1126/scitranslmed.abq5930. Epub 2023 Sep 13. Sci Transl Med. 2023. PMID: 37703354 Free PMC article.
Ciliary tip actin dynamics regulate photoreceptor outer segment integrity.
Megaw R, Moye A, Zhang Z, Newton F, McPhie F, Murphy LC, McKie L, He F, Jungnickel MK, von Kriegsheim A, Tennant PA, Brotherton C, Gurniak C, Gross AK, Machesky LM, Wensel TG, Mill P. Megaw R, et al. Nat Commun. 2024 May 21;15(1):4316. doi: 10.1038/s41467-024-48639-w. Nat Commun. 2024. PMID: 38773095 Free PMC article.
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Horani A, Gupta DK, Xu J, Xu H, Carmen Puga-Molina LD, 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. Horani A, et al. JCI Insight. 2023 Jun 8;8(11):e168836. doi: 10.1172/jci.insight.168836. JCI Insight. 2023. PMID: 37104040 Free PMC article.
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Horani A, Gupta DK, Xu J, Xu H, Del Carmen Puga-Molina L, Santi CM, Ramagiri S, Brennen SK, Pan J, Huang T, Hyland RM, Gunsten SP, Tzeng SC, Strahle JM, Mill P, Mahjoub MR, Dutcher SK, Brody SL. Horani A, et al. bioRxiv [Preprint]. 2023 Jan 14:2023.01.13.523966. doi: 10.1101/2023.01.13.523966. bioRxiv. 2023. Update in: JCI Insight. 2023 Jun 8;8(11):e168836. doi: 10.1172/jci.insight.168836. PMID: 36712068 Free PMC article. Updated. Preprint.
17 results