相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract
G. Senthil Kumar et al.
EXPERIMENTAL EYE RESEARCH (2013)
A 5-bp Insertion in Mip Causes Recessive Congenital Cataract in KFRS4/Kyo Rats
Kei Watanabe et al.
PLOS ONE (2012)
Junction-forming aquaporins
Andreas Engel et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2008)
Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract
K. Varadaraj et al.
EXPERIMENTAL EYE RESEARCH (2008)
Congenital cataracts and their molecular genetics
J. Fielding Hejtmancik
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2008)
Functional expression of aquaporins in embryonic, postnatal, and adult mouse lenses
Kulandaiappan Varadaraj et al.
DEVELOPMENTAL DYNAMICS (2007)
Genetic origins of cataract
Alan Shiels et al.
ARCHIVES OF OPHTHALMOLOGY (2007)
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
Mehrdad Khajavi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract
DD Geyer et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2006)
Nonsense-mediated mRNA decay: terminating erroneous gene expression
KE Baker et al.
CURRENT OPINION IN CELL BIOLOGY (2004)
Development of lens sutures
JR Kuszak et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY (2004)
Lens structure in MIP-deficient mice
KJ Al-Ghoul et al.
ANATOMICAL RECORD PART A-DISCOVERIES IN MOLECULAR CELLULAR AND EVOLUTIONARY BIOLOGY (2003)
Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice
A Shiels et al.
PHYSIOLOGICAL GENOMICS (2001)
Quality control of mRNA function
LE Maquat et al.
CELL (2001)
Functional impairment of lens aquaporin in two families with dominantly inherited cataracts
P Francis et al.
HUMAN MOLECULAR GENETICS (2000)
The genetics of childhood cataract
PJ Francis et al.
JOURNAL OF MEDICAL GENETICS (2000)
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
V Berry et al.
NATURE GENETICS (2000)