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
Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation.
Masmali A et al.
Journal of Ophthalmology, 2019
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family.
Morantes S et al.
Cornea, 2016
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
22908982 (PubMed )
Supplement: 1750-1172-7-52-S1.xlsx › Feuil1
Clinical and basic aspects of gelatinous drop-like corneal dystrophy.
Kawasaki S et al.
Developments in Ophthalmology, 2011
Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Paliwal P et al.
Molecular Vision, 2010
Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.
Alavi A et al.
Investigative Ophthalmology & Visual Science, 2007
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.
Ren Z et al.
Human Genetics, 2002
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