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Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.
Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, Crawford G, Anzilotti C, Steeples V, Ghaffari S, Czibik G, Bellahcene M, Watkins H, Ashrafian H, Davies B, Woods A, Carling D, Yavari A, Beutler B, Cornall RJ. Siggs OM, et al. Among authors: davies b. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3706-15. doi: 10.1073/pnas.1607592113. Epub 2016 Jun 14. Proc Natl Acad Sci U S A. 2016. PMID: 27303042 Free PMC article.
Functional significance of SRJ domain mutations in CITED2.
Chen CM, Bentham J, Cosgrove C, Braganca J, Cuenda A, Bamforth SD, Schneider JE, Watkins H, Keavney B, Davies B, Bhattacharya S. Chen CM, et al. Among authors: davies b. PLoS One. 2012;7(10):e46256. doi: 10.1371/journal.pone.0046256. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082118 Free PMC article.
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.
Adam J, Yang M, Bauerschmidt C, Kitagawa M, O'Flaherty L, Maheswaran P, Özkan G, Sahgal N, Baban D, Kato K, Saito K, Iino K, Igarashi K, Stratford M, Pugh C, Tennant DA, Ludwig C, Davies B, Ratcliffe PJ, El-Bahrawy M, Ashrafian H, Soga T, Pollard PJ. Adam J, et al. Among authors: davies b. Cell Rep. 2013 May 30;3(5):1440-8. doi: 10.1016/j.celrep.2013.04.006. Epub 2013 May 2. Cell Rep. 2013. PMID: 23643539 Free PMC article.
Cardiac ferroportin regulates cellular iron homeostasis and is important for cardiac function.
Lakhal-Littleton S, Wolna M, Carr CA, Miller JJ, Christian HC, Ball V, Santos A, Diaz R, Biggs D, Stillion R, Holdship P, Larner F, Tyler DJ, Clarke K, Davies B, Robbins PA. Lakhal-Littleton S, et al. Among authors: davies b. Proc Natl Acad Sci U S A. 2015 Mar 10;112(10):3164-9. doi: 10.1073/pnas.1422373112. Epub 2015 Feb 23. Proc Natl Acad Sci U S A. 2015. PMID: 25713362 Free PMC article.
Key stages of bone marrow B-cell maturation are defective in patients with common variable immunodeficiency disorders.
Anzilotti C, Kienzler AK, Lopez-Granados E, Gooding S, Davies B, Pandit H, Lucas M, Price A, Littlewood T, van der Burg M, Patel SY, Chapel H. Anzilotti C, et al. Among authors: davies b. J Allergy Clin Immunol. 2015 Aug;136(2):487-90.e2. doi: 10.1016/j.jaci.2014.12.1943. Epub 2015 Feb 26. J Allergy Clin Immunol. 2015. PMID: 25725990 No abstract available.
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.
Ehsan M, Kelly M, Hooper C, Yavari A, Beglov J, Bellahcene M, Ghataorhe K, Poloni G, Goel A, Kyriakou T, Fleischanderl K, Ehler E, Makeyev E, Lange S, Ashrafian H, Redwood C, Davies B, Watkins H, Gehmlich K. Ehsan M, et al. Among authors: davies b. J Mol Cell Cardiol. 2018 Aug;121:287-296. doi: 10.1016/j.yjmcc.2018.07.248. Epub 2018 Jul 23. J Mol Cell Cardiol. 2018. PMID: 30048712 Free PMC article.
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S. Anzilotti C, et al. Among authors: davies b. Nat Immunol. 2019 Mar;20(3):350-361. doi: 10.1038/s41590-018-0295-8. Epub 2019 Feb 4. Nat Immunol. 2019. PMID: 30718914 Free PMC article.
Systemic silencing of PHD2 causes reversible immune regulatory dysfunction.
Yamamoto A, Hester J, Macklin PS, Kawai K, Uchiyama M, Biggs D, Bishop T, Bull K, Cheng X, Cawthorne E, Coleman ML, Crockford TL, Davies B, Dow LE, Goldin R, Kranc K, Kudo H, Lawson H, McAuliffe J, Milward K, Scudamore CL, Soilleux E, Issa F, Ratcliffe PJ, Pugh CW. Yamamoto A, et al. Among authors: davies b. J Clin Invest. 2019 Jun 4;129(9):3640-3656. doi: 10.1172/JCI124099. J Clin Invest. 2019. PMID: 31162141 Free PMC article.
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Jiang H, Hooper C, Kelly M, Steeples V, Simon JN, Beglov J, Azad AJ, Leinhos L, Bennett P, Ehler E, Kalisch-Smith JI, Sparrow DB, Fischer R, Heilig R, Isackson H, Ehsan M, Patone G, Huebner N, Davies B, Watkins H, Gehmlich K. Jiang H, et al. Among authors: davies b. Basic Res Cardiol. 2021 Feb 26;116(1):14. doi: 10.1007/s00395-021-00853-z. Basic Res Cardiol. 2021. PMID: 33637999 Free PMC article.
2,395 results