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Keywords: human disease
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Biochem Soc Trans (2019) 47 (1): 23–36.
Published: 09 January 2019
... The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society 2019 ABC transporters conformations human disease multidrug resistance transport mechanism ATP-binding cassette (ABC) transporters are one of the largest superfamilies of membrane transporters...
Biochem Soc Trans (2016) 44 (5): 1377–1384.
Published: 19 October 2016
... of cytoplasmic RNAs. Although the molecular mechanisms of RNA degradation by DIS3L2 and XRN1 have been well studied, less is known about their specific roles in the development of multicellular organisms or human disease. This review focusses on the roles of DIS3L2 and XRN1 in the pathogenesis of human disease...
Biochem Soc Trans (2016) 44 (5): 1235–1244.
Published: 19 October 2016
... Society 2016 ciliopathies human disease retinitis pigmentosa RP2 RPGR Retinitis pigmentosa (RP) represents a heterogeneous group of retinal disorders characterised by a classic clinical triad of peripheral bone spicule formation, retinal blood vessel attenuation and pallor of the optic...
Biochem Soc Trans (2014) 42 (4): 1184–1189.
Published: 11 August 2014
... of genetic variation involving different aspects of miRNA biosynthesis, processing and regulation, with selected examples of incidences when this has potential to affect human disease. 1 To whom correspondence should be addressed (email L.W.Harries@exeter.ac.uk ). 5 3 2014 ©...