Metabolic perturbations in fibrosis disease
Ung, Chuin Ying, Onoufriadis, Alexandros, Parsons, Maddy, McGrath, John A., Shaw, Tanya J.
Published in The international journal of biochemistry & cell biology (01.10.2021)
Published in The international journal of biochemistry & cell biology (01.10.2021)
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DYX1C1 is required for axonemal dynein assembly and ciliary motility
Tarkar, Aarti, Loges, Niki T, Slagle, Christopher E, Francis, Richard, Dougherty, Gerard W, Tamayo, Joel V, Shook, Brett, Cantino, Marie, Schwartz, Daniel, Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Abouhamed, Marouan, Hjeij, Rim, Köhler, Gabriele, Griese, Matthias, Li, You, Lemke, Kristi, Klena, Nikolas, Liu, Xiaoqin, Gabriel, George, Tobita, Kimimasa, Jaspers, Martine, Morgan, Lucy C, Shapiro, Adam J, Letteboer, Stef J F, Mans, Dorus A, Carson, Johnny L, Leigh, Margaret W, Wolf, Whitney E, Chen, Serafine, Lucas, Jane S, Onoufriadis, Alexandros, Plagnol, Vincent, Schmidts, Miriam, Boldt, Karsten, Roepman, Ronald, Zariwala, Maimoona A, Lo, Cecilia W, Mitchison, Hannah M, Knowles, Michael R, Burdine, Rebecca D, LoTurco, Joseph J, Omran, Heymut
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation
Sheriff, Adam, Guri, Ina, Zebrowska, Paulina, Llopis-Hernandez, Virginia, Brooks, Imogen R., Tekkela, Stavroula, Subramaniam, Kavita, Gebrezgabher, Ruta, Naso, Gaetano, Petrova, Anastasia, Balon, Katarzyna, Onoufriadis, Alexandros, Kujawa, Dorota, Kotulska, Martyna, Newby, Gregory, Łaczmański, Łukasz, Liu, David R., McGrath, John A., Jacków, Joanna
Published in Scientific reports (16.11.2022)
Published in Scientific reports (16.11.2022)
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Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11
Shoemark, Amelia, Burgoyne, Thomas, Kwan, Robert, Dixon, Mellisa, Patel, Mitali P, Rogers, Andrew V, Onoufriadis, Alexandros, Scully, Juliet, Daudvohra, Farheen, Cullup, Thomas, Loebinger, Michael R, Wilson, Robert, Chung, Eddie M K, Bush, Andrew, Mitchison, Hannah M, Hogg, Claire
Published in The European respiratory journal (01.02.2018)
Published in The European respiratory journal (01.02.2018)
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Journal Article
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects
Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, Hirst, Robert A, Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L, Hogg, Claire, Yang, Pinfen, Chung, Eddie M K, Emes, Richard D, O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M
Published in Human molecular genetics (01.07.2014)
Published in Human molecular genetics (01.07.2014)
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Journal Article
Blaschko‐linear lichen planus: Clinicopathological and genetic analysis
Chuamanochan, Mati, Onoufriadis, Alexandros, Farnood, Shahir, Hsu, Chao‐Kai, Simpson, Michael A., Mahanupab, Pongsak, Tovanabutra, Napatra, Chiewchanvit, Siri, McGrath, John A.
Published in Journal of dermatology (01.11.2020)
Published in Journal of dermatology (01.11.2020)
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Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome
Sukakul, Thanisorn, Yang, Hsing‐San, Onoufriadis, Alexandros, Hsu, Chao‐Kai, McGrath, John A.
Published in Journal of dermatology (01.09.2019)
Published in Journal of dermatology (01.09.2019)
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Journal Article
Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
Onoufriadis, Alexandros, Ahmed, Noha, Bessar, Hagar, Guy, Alyson, Liu, Lu, Marantzidis, Alexandros, Kesidou, Evangelia, Papanikolaou, Maria, Simpson, Michael A., Mellerio, Jemima E., Lee, John Y.W., McGrath, John A.
Published in Journal of investigative dermatology (01.06.2020)
Published in Journal of investigative dermatology (01.06.2020)
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The Past and Future of Rare Skin Disease Research and Therapy
Onoufriadis, Alexandros, McGrath, John A.
Published in Journal of investigative dermatology (01.04.2022)
Published in Journal of investigative dermatology (01.04.2022)
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Single‐cell transcriptomics in human skin research: available technologies, technical considerations and disease applications
Theocharidis, Georgios, Tekkela, Stavroula, Veves, Aristidis, McGrath, John A., Onoufriadis, Alexandros
Published in Experimental dermatology (01.05.2022)
Published in Experimental dermatology (01.05.2022)
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The UK10K project identifies rare variants in health and disease
Walter, Klaudia, Min, Josine L, Huang, Jie, Crooks, Lucy, Memari, Yasin, McCarthy, Shane, Perry, John R B, Xu, ChangJiang, Futema, Marta, Lawson, Daniel, Iotchkova, Valentina, Schiffels, Stephan, Hendricks, Audrey E, Danecek, Petr, Li, Rui, Floyd, James, Wain, Louise V, Barroso, Inês, Humphries, Steve E, Hurles, Matthew E, Zeggini, Eleftheria, Barrett, Jeffrey C, Plagnol, Vincent, Richards, J Brent, Greenwood, Celia M T, Timpson, Nicholas J, Durbin, Richard, Soranzo, Nicole
Published in Nature (London) (01.10.2015)
Published in Nature (London) (01.10.2015)
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Spatial transcriptomics in human skin research
Tekkela, Stavroula, Theocharidis, Georgios, McGrath, John A., Onoufriadis, Alexandros
Published in Experimental dermatology (01.06.2023)
Published in Experimental dermatology (01.06.2023)
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Comorbidities of Keloid and Hypertrophic Scars Among Participants in UK Biobank
Ung, Chuin Y, Warwick, Alasdair, Onoufriadis, Alexandros, Barker, Jonathan N, Parsons, Maddy, McGrath, John A, Shaw, Tanya J, Dand, Nick
Published in JAMA dermatology (Chicago, Ill.) (01.02.2023)
Published in JAMA dermatology (Chicago, Ill.) (01.02.2023)
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