Associated Papers
Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.
Tax G et al.
Traffic (copenhagen, Denmark), 2024
Rescue of secretion of a rare-disease associated mis-folded mutant glycoprotein in UGGT1 knock-out mammalian cells.
Tax G et al.
Biorxiv : the Preprint Server for Biology, 2023
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family.
Morantes S et al.
Cornea, 2016
Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Jongkhajornpong P et al.
Human Genome Variation, 2015
Clinical and basic aspects of gelatinous drop-like corneal dystrophy.
Kawasaki S et al.
Developments in Ophthalmology, 2011
Chromosomal sharing in atypical cases of gelatinous drop-like corneal dystrophy.
Tsujikawa M et al.
Japanese Journal of Ophthalmology, 2010
Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Paliwal P et al.
Molecular Vision, 2010
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.
Yamada N et al.
Molecular Vision, 2009
Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.
Alavi A et al.
Investigative Ophthalmology & Visual Science, 2007
A missense mutation in the M1S1 gene found in a turkish patient with gelatinous droplike corneal dystrophy.
Yildirim N et al.
Cornea, 2007
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy.
Markoff A et al.
Molecular Vision, 2006
Genetics of corneal dystrophies: the evolving landscape.
Pieramici SF et al.
Current Opinion in Ophthalmology, 2006
A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy.
Taniguchi Y et al.
American Journal of Ophthalmology, 2005
Genetics of anterior and stromal corneal dystrophies.
Poulaki V et al.
Seminars in Ophthalmology, 0
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