Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please

por Smith, Claire E. L., Lake, Alice V. R., Johnson, Colin A.
Publicado 2020

A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes

por Smith, Claire E. L., Alexandraki, Alexia, Cordery, Sarah F., Parmar, Rekha, Bonthron, David T., Valleley, Elizabeth M. A.
Publicado 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

por Smith, Claire E. L., Poulter, James A., Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2017

Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta

por Smith, Claire E.L., Murillo, Gina, Brookes, Steven J., Poulter, James A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Publicado 2016

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

por Poulter, James A., Brookes, Steven J., Shore, Roger C., Smith, Claire E. L., Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Publicado 2014

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

por Poulter, James A., Murillo, Gina, Brookes, Steven J., Smith, Claire E. L., Parry, David A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Publicado 2014

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

por Smith, Claire E. L., Kirkham, Jennifer, Day, Peter F., Soldani, Francesca, McDerra, Esther J., Poulter, James A., Inglehearn, Christopher F., Mighell, Alan J., Brookes, Steven J.
Publicado 2017

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

por McClinton, Benjamin, Crinnion, Laura A., McKibbin, Martin, Mukherjee, Rajarshi, Poulter, James A., Smith, Claire E. L., Ali, Manir, Watson, Christopher M., Inglehearn, Chris F., Toomes, Carmel
Publicado 2023

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress

por Brookes, Steven J., Barron, Martin J., Smith, Claire E.L., Poulter, James A., Mighell, Alan J., Inglehearn, Chris F., Brown, Catriona J., Rodd, Helen, Kirkham, Jennifer, Dixon, Michael J.
Publicado 2017

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

por Nikolopoulos, Georgios, Smith, Claire E.L., Brookes, Steven J., El‐Asrag, Mohammed E., Brown, Catriona J., Patel, Anesha, Murillo, Gina, O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2020

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

por Poulter, James A., Smith, Claire E. L., Murrillo, Gina, Silva, Sandra, Feather, Sally, Howell, Marianella, Crinnion, Laura, Bonthron, David T., Carr, Ian M., Watson, Christopher M., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2015

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta

por Smith, Claire E L, Whitehouse, Laura L E, Poulter, James A, Wilkinson Hewitt, Laura, Nadat, Fatima, Jackson, Brian R, Manfield, Iain W, Edwards, Thomas A, Rodd, Helen D, Inglehearn, Chris F, Mighell, Alan J
Publicado 2020

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

por Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F
Publicado 2016

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome

por Whitehouse, Laura L. E., Smith, Claire E. L., Poulter, James A., Brown, Catriona J., Patel, Anesha, Lamb, Teresa, Brown, Lucy R., O’Sullivan, Elizabeth A., Mitchell, Rowena E., Berry, Ian R., Charlton, Ruth, Inglehearn, Chris F., Mighell, Alan J.
Publicado 2018

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

por Acevedo, Ana Carolina, Poulter, James A, Alves, Priscila Gomes, de Lima, Caroline Lourenço, Castro, Luiz Claudio, Yamaguti, Paulo Marcio, Paula, Lilian M, Parry, David A, Logan, Clare V, Smith, Claire E L, Johnson, Colin A, Inglehearn, Chris F, Mighell, Alan J
Publicado 2015

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

por Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2016

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

por Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustapha, Black, Graeme C., Ferdinandusse, Sacha, Ramdi, Hind, Heimler, Audrey, Fryer, Alan, Lynch, Sally-Ann, Cooper, Nicola, Ong, Kai Ren, Smith, Claire E.L., Inglehearn, Christopher F., Mighell, Alan J., Elcock, Claire, Poulter, James A., Tischkowitz, Marc, Davies, Sally J., Sefiani, Abdelaziz, Mironov, Aleksandr A., Newman, William G., Waterham, Hans R., Van Camp, Guy
Publicado 2015

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

por de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E.L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P.M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.
Publicado 2020