Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway
Esapa, Christopher T, Piret, Sian E, Nesbit, M Andrew, Loh, Nellie Y, Thomas, Gethin, Croucher, Peter I, Brown, Matthew A, Brown, Steve D M, Cox, Roger D, Thakker, Rajesh V
Published in PloS one (13.12.2016)
Published in PloS one (13.12.2016)
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Journal Article
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies
Esapa, Christopher T, McIlhinney, R A Jeffrey, Waite, Adrian J, Benson, Matthew A, Mirzayan, Jasmin, Piko, Henriett, Herczegfalvi, Ágnes, Horvath, Rita, Karcagi, Veronika, Walter, Maggie C, Lochmüller, Hanns, Rizkallah, Pierre J, Lu, Qi L, Blake, Derek J
Published in Frontiers in molecular biosciences (07.12.2023)
Published in Frontiers in molecular biosciences (07.12.2023)
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Journal Article
An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
Bentley, Liz, Esapa, Christopher T, Nesbit, M. Andrew, Head, Rosie A, Evans, Holly, Lath, Darren, Scudamore, Cheryl L, Hough, Tertius A, Podrini, Christine, Hannan, Fadil M, Fraser, William D, Croucher, Peter I, Brown, Matthew A, Brown, Steve D. M, Cox, Roger D, Thakker, Rajesh V
Published in Endocrinology (Philadelphia) (01.03.2014)
Published in Endocrinology (Philadelphia) (01.03.2014)
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Journal Article
N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models
Esapa, Christopher T, Hannan, Fadil M, Babinsky, Valerie N, Potter, Paul, Thomas, Gethin P, Croucher, Peter I, Brown, Matthew A, Brown, Steve D M, Cox, Roger D, Thakker, Rajesh V
Published in PloS one (10.04.2015)
Published in PloS one (10.04.2015)
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Journal Article
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis
Esapa, Christopher T, Head, Rosie A, Jeyabalan, Jeshmi, Evans, Holly, Hough, Tertius A, Cheeseman, Michael T, McNally, Eugene G, Carr, Andrew J, Thomas, Gethin P, Brown, Matthew A, Croucher, Peter I, Brown, Steve D M, Cox, Roger D, Thakker, Rajesh V
Published in PloS one (13.08.2012)
Published in PloS one (13.08.2012)
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Journal Article
A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation
Piret, Sian E, Esapa, Christopher T, Gorvin, Caroline M, Head, Rosie, Loh, Nellie Y, Devuyst, Olivier, Thomas, Gethin, Brown, Steve D M, Brown, Matthew, Croucher, Peter, Cox, Roger, Thakker, Rajesh V
Published in PloS one (14.09.2012)
Published in PloS one (14.09.2012)
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Journal Article
Helios is a key transcriptional regulator of outer hair cell maturation
Chessum, Lauren, Matern, Maggie S, Kelly, Michael C, Johnson, Stuart L, Ogawa, Yoko, Milon, Beatrice, McMurray, Mark, Driver, Elizabeth C, Parker, Andrew, Song, Yang, Codner, Gemma, Esapa, Christopher T, Prescott, Jack, Trent, Graham, Wells, Sara, Dragich, Abigail K, Frolenkov, Gregory I, Kelley, Matthew W, Marcotti, Walter, Brown, Steve D M, Elkon, Ran, Bowl, Michael R, Hertzano, Ronna
Published in Nature (London) (01.11.2018)
Published in Nature (London) (01.11.2018)
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Journal Article
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo
Keramaris-Vrantsis, Elizabeth, Lu, Pei J., Doran, Timothy, Zillmer, Allen, Ashar, Jignya, Esapa, Christopher T., Benson, Matthew A., Blake, Derek J., Rosenfeld, Jeffrey, Lu, Qi L.
Published in Muscle & nerve (01.10.2007)
Published in Muscle & nerve (01.10.2007)
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Journal Article
Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic Mouse Model of Type 2 Diabetes
Goldsworthy, Michelle, Bai, Ying, Li, Chi-Ming, Ge, Huanying, Lamas, Edwin, Hilton, Helen, Esapa, Christopher T, Baker, Dan, Baron, Will, Juan, Todd, Véniant, Murielle M, Lloyd, David J, Cox, Roger D
Published in Diabetes (New York, N.Y.) (01.05.2016)
Published in Diabetes (New York, N.Y.) (01.05.2016)
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Journal Article
Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function
Dunbar, Lucy A, Patni, Pranav, Aguilar, Carlos, Mburu, Philomena, Corns, Laura, Wells, Helena RR, Delmaghani, Sedigheh, Parker, Andrew, Johnson, Stuart, Williams, Debbie, Esapa, Christopher T, Simon, Michelle M, Chessum, Lauren, Newton, Sherylanne, Dorning, Joanne, Jeyarajan, Prashanthini, Morse, Susan, Lelli, Andrea, Codner, Gemma F, Peineau, Thibault, Gopal, Suhasini R, Alagramam, Kumar N, Hertzano, Ronna, Dulon, Didier, Wells, Sara, Williams, Frances M, Petit, Christine, Dawson, Sally J, Brown, Steve DM, Marcotti, Walter, El‐Amraoui, Aziz, Bowl, Michael R
Published in EMBO molecular medicine (01.09.2019)
Published in EMBO molecular medicine (01.09.2019)
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Journal Article
SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA
Esapa, Christopher T., Waite, Adrian, Locke, Matthew, Benson, Matthew A., Kraus, Michaela, McIlhinney, R.A. Jeffrey, Sillitoe, Roy V., Beesley, Philip W., Blake, Derek J.
Published in Human molecular genetics (01.02.2007)
Published in Human molecular genetics (01.02.2007)
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Journal Article
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation
Esapa, Christopher T, Hough, Tertius A, Testori, Sarah, Head, Rosie A, Crane, Elizabeth A, Chan, Carol PS, Evans, Holly, Bassett, JH Duncan, Tylzanowski, Przemko, McNally, Eugene G, Carr, Andrew J, Boyde, Alan, Howell, Peter GT, Clark, Anne, Williams, Graham R, Brown, Matthew A, Croucher, Peter I, Nesbit, M Andrew, Brown, Steve DM, Cox, Roger D, Cheeseman, Michael T, Thakker, Rajesh V
Published in Journal of bone and mineral research (01.02.2012)
Published in Journal of bone and mineral research (01.02.2012)
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Journal Article
The Adenosine A2A Receptor Interacts with the Actin-binding Protein α-Actinin
Burgueño, Javier, Blake, Derek J., Benson, Matthew A., Tinsley, Caroline L., Esapa, Christopher T., Canela, Enric I., Penela, Petronila, Mallol, Josefa, Mayor, Federico, Lluis, Carmen, Franco, Rafael, Ciruela, Francisco
Published in The Journal of biological chemistry (26.09.2003)
Published in The Journal of biological chemistry (26.09.2003)
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Journal Article
Prevalence of Ras mutations in thyroid neoplasia
Esapa, Christopher T., Johnson, Sarah J., Kendall-Taylor, Pat, Lennard, Tom W. J., Harris, Philip E.
Published in Clinical endocrinology (Oxford) (01.04.1999)
Published in Clinical endocrinology (Oxford) (01.04.1999)
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Journal Article
An N -Ethyl- N -Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion
Esapa, Christopher T, Piret, Sian E, Nesbit, M Andrew, Thomas, Gethin P, Coulton, Leslie A, Gallagher, Orla M, Simon, Michelle M, Kumar, Saumya, Mallon, Ann-Marie, Bellantuono, Ilaria, Brown, Matthew A, Croucher, Peter I, Potter, Paul K, Brown, Steve Dm, Cox, Roger D, Thakker, Rajesh V
Published in JBMR plus (01.05.2018)
Published in JBMR plus (01.05.2018)
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Journal Article
Bone Mineral Content and Density
Esapa, Christopher T, Bassett, J H Duncan, Evans, Holly, Croucher, Peter I, Williams, Graham R, Thakker, Rajesh V
Published in Current protocols in mouse biology (01.12.2012)
Published in Current protocols in mouse biology (01.12.2012)
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Journal Article
SGCE missense mutations that cause myoclonus-dystonia syndrome impair -sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA
Esapa, Christopher T., Waite, Adrian, Locke, Matthew, Benson, Matthew A., Kraus, Michaela, McIlhinney, R.A. Jeffrey, Sillitoe, Roy V., Beesley, Philip W., Blake, Derek J.
Published in Human molecular genetics (01.02.2007)
Published in Human molecular genetics (01.02.2007)
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Journal Article
GATA3 Mutations Found in Breast Cancers May Be Associated with Aberrant Nuclear Localization, Reduced Transactivation and Cell Invasiveness
Gaynor, Katherine U., Grigorieva, Irina V., Allen, Michael D., Esapa, Christopher T., Head, Rosemary A., Gopinath, Preethi, Christie, Paul T., Nesbit, M. Andrew, Jones, J. Louise, Thakker, Rajesh V.
Published in Hormones & cancer (01.06.2013)
Published in Hormones & cancer (01.06.2013)
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