Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases
Hartley, Claire L, Edwards, Sarah, Mullan, Lorna, Bell, Peter A, Fresquet, Maryline, Boot-Handford, Raymond P, Briggs, Michael D
Published in Human molecular genetics (20.12.2013)
Published in Human molecular genetics (20.12.2013)
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XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease
Piróg, Katarzyna A, Dennis, Ella P, Hartley, Claire L, Jackson, Robert M, Soul, Jamie, Schwartz, Jean-Marc, Bateman, John F, Boot-Handford, Raymond P, Briggs, Michael D
Published in PLoS genetics (01.07.2019)
Published in PLoS genetics (01.07.2019)
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Journal Article
CRELD2 Is a Novel LRP1 Chaperone That Regulates Noncanonical WNT Signaling in Skeletal Development
Dennis, Ella P, Edwards, Sarah M, Jackson, Robert M, Hartley, Claire L, Tsompani, Dimitra, Capulli, Mattia, Teti, Anna, Boot‐Handford, Raymond P, Young, David A, Piróg, Katarzyna A, Briggs, Michael D
Published in Journal of bone and mineral research (01.08.2020)
Published in Journal of bone and mineral research (01.08.2020)
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Journal Article
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2 -related schwannomatosis
Smith, Miriam J, Perez-Becerril, Cristina, van der Meer, Mwee, Burghel, George J, Waller, Sarah J, Carney, Megan, Bunstone, Sancha, Fryer, Katherine, Bowers, Naomi L, Hartley, Claire L, Smith, Philip T, Rutherford, Scott A, Freeman, Simon R, Lloyd, Simon K W, Pathmanaban, Omar N, King, Andrew Thomas, Halliday, Dorothy, Duff, Chris, Evans, D Gareth
Published in Journal of medical genetics (23.10.2024)
Published in Journal of medical genetics (23.10.2024)
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Journal Article
Re‐evaluation of missense variant classifications in NF2
Sadler, Katherine V., Rowlands, Charlie F., Smith, Philip T., Hartley, Claire L., Bowers, Naomi L., Roberts, Nicola Y., Harris, Jade L., Wallace, Andrew J., Evans, D. Gareth, Messiaen, Ludwine M., Smith, Miriam J.
Published in Human mutation (01.05.2022)
Published in Human mutation (01.05.2022)
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Journal Article
Challenge for a new era—importance of ensuring accuracy of genotype in cystic fibrosis registries
Hartley, Claire L, Barry, Peter J, Green, Heather, Henchliffe, Jennifer, Brock, Joanna, Tobi, Simon E, Ramsden, Simon C, Horsley, Alexander R
Published in Journal of cystic fibrosis (01.09.2016)
Published in Journal of cystic fibrosis (01.09.2016)
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Journal Article
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
Evans, D. Gareth, Hartley, Claire L., Smith, Philip T., King, Andrew T., Bowers, Naomi L., Tobi, Simon, Wallace, Andrew J., Perry, Mary, Anup, Raji, Lloyd, Simon K. W., Rutherford, Scott A., Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N., Stapleton, Emma, Freeman, Simon R., Kellett, Mark, Halliday, Dorothy, Parry, Allyson, Gair, Juliette J., Axon, Patrick, Laitt, Roger, Thomas, Owen, Afridi, Shazia K., Obholzer, Rupert, Duff, Chris, Stivaros, Stavros M., Vassallo, Grace, Harkness, Elaine F., Smith, Miriam J.
Published in Genetics in medicine (2020)
Published in Genetics in medicine (2020)
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