Lorraine Eley

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. doi request reprint Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development
    Roslyn J Simms
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Cell Mol Life Sci 69:993-1009. 2012
  2. ncbi request reprint Cilia and disease
    Lorraine Eley
    Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Curr Opin Genet Dev 15:308-14. 2005
  3. pmc Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome
    Yu Zhu Cheng
    Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom
    PLoS ONE 7:e44975. 2012
  4. doi request reprint Jouberin localizes to collecting ducts and interacts with nephrocystin-1
    Lorraine Eley
    Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    Kidney Int 74:1139-49. 2008
  5. ncbi request reprint A perspective on inversin
    Lorraine Eley
    Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Cell Biol Int 28:119-24. 2004
  6. pmc Functional modelling of a novel mutation in BBS5
    Mohamed H Al-Hamed
    International Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle NE1 3BZ, UK
    Cilia 3:3. 2014
  7. pmc Nephronophthisis
    Roslyn J Simms
    Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, UK
    Eur J Hum Genet 17:406-16. 2009
  8. pmc Nephronophthisis: a genetically diverse ciliopathy
    Roslyn J Simms
    Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Int J Nephrol 2011:527137. 2011
  9. doi request reprint Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct
    Lorraine Eley
    Institute of Human Genetics, International Centre for Life, University of Newcastle upon Tyne, NE1 3BZ, UK
    Biochem Biophys Res Commun 371:877-82. 2008
  10. ncbi request reprint Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle
    David Morgan
    Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
    Hum Mol Genet 11:3345-50. 2002

Collaborators

  • John A Sayer
  • Helen R Dawe
  • Friedhelm Hildebrandt
  • Roslyn J Simms
  • Ann Marie Hynes
  • Mohamed H Al-Hamed
  • Yu Zhu Cheng
  • Jacob Hecksher-Sørensen
  • Paul Chrystal
  • Riham El Sayed
  • Brian Meyer
  • David Morgan
  • Fatimah Al-Fadhly
  • Charles van Lennep
  • Susan Lindsay
  • Amy Barker
  • David Inglis
  • Lynne M Overman
  • Bill Chaudhry
  • Ulf Ahlgren
  • Robert E Hill
  • Palle Serup
  • Carlo De Angelis
  • Robert P Watson
  • Laura A Lettice
  • Laura M Yates
  • Judith A Goodship
  • A Scott Craighead
  • Tom Strachan

Detail Information

Publications11

  1. doi request reprint Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development
    Roslyn J Simms
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Cell Mol Life Sci 69:993-1009. 2012
    ..These data support a role for Ahi1 in epithelial cell organization and ciliary formation and explain the ciliopathy phenotype of AHI1 mutations in man...
  2. ncbi request reprint Cilia and disease
    Lorraine Eley
    Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Curr Opin Genet Dev 15:308-14. 2005
    ..Although the function of primary cilia in some organs is being elucidated, in many other organs they have not been studied at all. It is probable that many more cilia-related disorders remain to be discovered...
  3. pmc Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome
    Yu Zhu Cheng
    Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom
    PLoS ONE 7:e44975. 2012
    ..Taken together these data support a role for AHI1 and CEP290 in multiple organs throughout development and we suggest that this accounts for the wide phenotypic spectrum of AHI1 and CEP290 mutations in man...
  4. doi request reprint Jouberin localizes to collecting ducts and interacts with nephrocystin-1
    Lorraine Eley
    Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    Kidney Int 74:1139-49. 2008
    ..Our results suggest that Jouberin is a protein whose expression pattern supports both the adherens junction and the ciliary hypotheses for abnormalities leading to nephronophthisis...
  5. ncbi request reprint A perspective on inversin
    Lorraine Eley
    Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Cell Biol Int 28:119-24. 2004
    ..Its role in both the pathway determining left-right axis and renal function remains to be elucidated...
  6. pmc Functional modelling of a novel mutation in BBS5
    Mohamed H Al-Hamed
    International Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle NE1 3BZ, UK
    Cilia 3:3. 2014
    ..The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties, obesity and male hypogonadism...
  7. pmc Nephronophthisis
    Roslyn J Simms
    Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, UK
    Eur J Hum Genet 17:406-16. 2009
    ..Functional studies implicate nephrocystins in planar cell polarity pathways, which may be crucial for renal development and maintenance of tubular architecture...
  8. pmc Nephronophthisis: a genetically diverse ciliopathy
    Roslyn J Simms
    Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Int J Nephrol 2011:527137. 2011
    ..In this paper, we discuss the latest understanding in the molecular and cellular pathogenesis of NPHP. We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families...
  9. doi request reprint Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct
    Lorraine Eley
    Institute of Human Genetics, International Centre for Life, University of Newcastle upon Tyne, NE1 3BZ, UK
    Biochem Biophys Res Commun 371:877-82. 2008
    ..These data define Ack1 as a novel interaction partner of nephrocystin-1 and implicate cell-cell junctions and the renal collecting duct in the pathology of nephronophthisis...
  10. ncbi request reprint Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle
    David Morgan
    Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
    Hum Mol Genet 11:3345-50. 2002
    ..Aberrant cell proliferation is also involved in cyst development. The data reported here suggest that inversin may provide a link between these two mechanisms...
  11. ncbi request reprint The splanchnic mesodermal plate directs spleen and pancreatic laterality, and is regulated by Bapx1/Nkx3.2
    Jacob Hecksher-Sørensen
    Comparative and Developmental Genetics Section, MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Development 131:4665-75. 2004
    ..We conclude that the SMP is an organiser responsible for the leftward growth of the spleno-pancreatic region and that Bapx1 regulates SMP functions required for pancreatic laterality...