PRSS56

Summary

Gene Symbol: PRSS56
Description: protease, serine, 56
Alias: MCOP6, serine protease 56
Species: human

Top Publications

  1. doi Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
    K Saidas Nair
    Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
    Nat Genet 43:579-84. 2011
  2. pmc Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease
    Andreas Gal
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Am J Hum Genet 88:382-90. 2011
  3. doi Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene
    Mariem Ben Said
    Laboratoire de Microorganismes et Biomolécules, Centre de Biotechnologie de Sfax, Tunisia
    Gene 528:288-94. 2013
  4. doi Biometric and molecular characterization of clinically diagnosed posterior microphthalmos
    Sawsan R Nowilaty
    Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Am J Ophthalmol 155:361-372.e7. 2013
  5. pmc Mutations in a novel serine protease PRSS56 in families with nanophthalmos
    Andrew Orr
    Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    Mol Vis 17:1850-61. 2011

Scientific Experts

  • S R Nowilaty
  • Andreas Gal
  • Andrew Orr
  • Mariem Ben Said
  • Peter Söderkvist
  • Salma Ben Salem
  • Mounira Hmani-Aifa
  • Zeineb Benzina
  • Hammadi Ayadi
  • Walid Bouassida
  • K Saidas Nair
  • Kods Daoud
  • Leila Largueche
  • Leila Matri
  • Ebtissem Chouchène
  • Danilo G Macalinao
  • Bochra Hakim
  • Simon W M John
  • Zain Ali
  • Ioan M Cosma
  • Richard S Smith
  • Ileana Soto
  • Gareth R Howell
  • Alison L Kearney

Detail Information

Publications5

  1. doi Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
    K Saidas Nair
    Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
    Nat Genet 43:579-84. 2011
    ..Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG...
  2. pmc Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease
    Andreas Gal
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Am J Hum Genet 88:382-90. 2011
    ..1 in two large Faroese families. We detected three different mutations in PRSS56. Patients of the Faroese families were either homozygous for c.926G>C (p...
  3. doi Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene
    Mariem Ben Said
    Laboratoire de Microorganismes et Biomolécules, Centre de Biotechnologie de Sfax, Tunisia
    Gene 528:288-94. 2013
    ..gene mutations have, for instance, been associated with nanophthalmia, and mutations in the recently identified PRSS56 gene have been linked to PM. So far, these two forms of CMIC have been associated with 9 mutations in PRSS56...
  4. doi Biometric and molecular characterization of clinically diagnosed posterior microphthalmos
    Sawsan R Nowilaty
    Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Am J Ophthalmol 155:361-372.e7. 2013
    ..To biometrically and molecularly characterize clinically diagnosed posterior microphthalmos...
  5. pmc Mutations in a novel serine protease PRSS56 in families with nanophthalmos
    Andrew Orr
    Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    Mol Vis 17:1850-61. 2011
    ..Identification of additional genes for nanophthalmos will improve our understanding of normal developmental regulation of eye growth...