L
Lorraine A. Everett
Researcher at National Institutes of Health
Publications - 24
Citations - 5330
Lorraine A. Everett is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Pendrin & Pendred syndrome. The author has an hindex of 22, co-authored 24 publications receiving 5075 citations.
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Journal ArticleDOI
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
Lorraine A. Everett,Benjamin Glaser,John S. Beck,Jacquelyn R. Idol,Andreas Buchs,Ma’ayan Heyman,Faiad Adawi,Elizur Hazani,Elias Nassir,Andreas D. Baxevanis,Val C. Sheffield,Eric D. Green +11 more
TL;DR: These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease.
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LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition
J.Michael Frangiskakis,Amanda K. Ewart,Colleen A. Morris,Carolyn B. Mervis,Jacquelyn Bertrand,Byron F. Robinson,Bonita P. Klein,Gregory J. Ensing,Lorraine A. Everett,Eric D. Green,Christoph Pröschel,N.J. Gutowski,Mark Noble,Donald L. Atkinson,Donald L. Atkinson,Shannon J. Odelberg,Mark T. Keating +16 more
TL;DR: Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition.
Journal ArticleDOI
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
Ines E. Royaux,Susan M. Wall,Lawrence P. Karniski,Lorraine A. Everett,Koichi Suzuki,Mark A. Knepper,Eric D. Green +6 more
TL;DR: Immunolocalization studies indicate that pendrin is an apical anion transporter in intercalated cells of CCDs and has an essential role in renal bicarbonate secretion.
Journal ArticleDOI
Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells.
Ines E. Royaux,Koichi Suzuki,Atsumi Mori,Ryohei Katoh,Lorraine A. Everett,Leonard D. Kohn,Eric D. Green +6 more
TL;DR: Results suggest that pendrin is an apical porter of iodide in the thyroid and that the expression and function of both the apical and basal iodide porters are coordinately regulated by follicular TG.
Journal ArticleDOI
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
Lorraine A. Everett,Inna A. Belyantseva,Konrad Noben-Trauth,Raquel Cantos,Amy Chen,Sneha I. Thakkar,Shelley Hoogstraten-Miller,Bechara Kachar,Doris K. Wu,Eric D. Green +9 more
TL;DR: The ultrastructural defects seen in the Pds(-/-) mice provide important clues about the mechanisms responsible for the inner-ear pathology associated with PDS mutations.