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Ian D. Millar
Researcher at University of Manchester
Publications - 11
Citations - 648
Ian D. Millar is an academic researcher from University of Manchester. The author has contributed to research in topics: Patch clamp & Choroid plexus. The author has an hindex of 8, co-authored 11 publications receiving 583 citations. Previous affiliations of Ian D. Millar include University of Cambridge & University of Sheffield.
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Journal ArticleDOI
Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans
Rosemary Burgess,Rosemary Burgess,Ian D. Millar,Bart P. Leroy,Jill E. Urquhart,Jill E. Urquhart,Ian M. Fearon,Elfrida De Baere,Peter de Nully Brown,Anthony G. Robson,Anthony G. Robson,Genevieve A. Wright,Philippe Kestelyn,Graham E. Holder,Graham E. Holder,Andrew R. Webster,Andrew R. Webster,Forbes D C Manson,Forbes D C Manson,Forbes D C Manson,Graeme C.M. Black,Graeme C.M. Black,Graeme C.M. Black +22 more
TL;DR: A distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram is described.
Journal ArticleDOI
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
Alice E. Davidson,Ian D. Millar,Jill E. Urquhart,Rosemary Burgess-Mullan,Yusrah Shweikh,Neil R. A. Parry,James O'Sullivan,Geoffrey J. Maher,Martin McKibbin,Susan M. Downes,Andrew J. Lotery,Samuel G. Jacobson,Peter de Nully Brown,Graeme C.M. Black,Forbes D C Manson +14 more
TL;DR: Four missense mutations in bestrophin-1 are described, three that are believed to be previously unreported, in patients diagnosed with autosomal-dominant and -recessive forms of retinitis pigmentosa (RP).
Journal ArticleDOI
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
Alice E. Davidson,Ian D. Millar,Rosemary Burgess-Mullan,Geoffrey J. Maher,Jill E. Urquhart,Peter de Nully Brown,Graeme C.M. Black,Forbes D C Manson +7 more
TL;DR: Differences in cellular processing mechanisms for different ARB associated mutants lead to the same disease phenotype, showing that missense mutations associated with an autosomal recessive disease have a pathogenic influence beyond simple loss of function.
Journal ArticleDOI
NBCe2 exhibits a 3 HCO3(-):1 Na+ stoichiometry in mouse choroid plexus epithelial cells.
TL;DR: The transport stoichiometry of the electrogenic sodium-bicarbonate cotransporter (SLC4A5 or NBCe2) in mouse choroid plexus was examined and the HCO3(-)-induced current was completely abolished by 500 microM 4,4'-diisothiocyanostilbene-2,2'-disulphonic acid.
Journal ArticleDOI
Ion channel diversity, channel expression and function in the choroid plexuses.
TL;DR: Good progress has been made in identifying the channels expressed in the choroid plexus, but determining the precise roles of these channels in CSF secretion remains a challenge for the future.