The observation of anterior segment in children with an R124L mutation corneal dystrophy by anterior segment optical coherence tomography and in vivo confocal microscopy.
Frontiers In Medicine
Fu, Mengjun M; Zhao, Jing J; Zhang, Haorun H; Wang, Rui R; Zhou, Xingtao X
Femtosecond laser assisted superficial lamellar keratectomy as a successful treatment of corneal opacity in a patient with Thiel Behnke corneal dystrophy.
International Journal Of Surgery Case Reports
Abusayf, Mohammed M MM; Tobaigy, Mohannad F MF; Alfawaz, Abdullah A; Alkatan, Hind M HM
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.
Iranian Journal Of Basic Medical Sciences
Mohammadi, Aliasgar A; Ahmadi Shadmehri, Azam A; Taghavi, Mahnaz M; Yaghoobi, Gholamhossein G; Pourreza, Mohammad Reza MR; Tabatabaiefar, Mohammad Amin MA
Pharmaceutical modulation of the proteolytic profile of Transforming Growth Factor Beta induced protein (TGFBIp) offers a new avenue for treatment of TGFBI-corneal dystrophy.
Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.
Turkish Journal Of Ophthalmology
Malkondu, Fatma F; Arıkoğlu, Hilal H; Erkoç Kaya, Dudu D; Bozkurt, Banu B; Özkan, Fehmi F
The serine protease HtrA1 cleaves misfolded transforming growth factor β-induced protein (TGFBIp) and induces amyloid formation.
The Journal Of Biological Chemistry
Poulsen, Ebbe Toftgaard ET; Nielsen, Nadia Sukusu NS; Scavenius, Carsten C; Mogensen, Emilie Hage EH; Risør, Michael W MW; Runager, Kasper K; Lukassen, Marie V MV; Rasmussen, Casper B CB; Christiansen, Gunna G; Richner, Mette M; Vorum, Henrik H; Enghild, Jan J JJ
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.
Eye (London, England)
Chao-Shern, Connie C; DeDionisio, Lawrence A LA; Jang, Jun-Heok JH; Chan, Clara C CC; Thompson, Vance V; Christie, Kathleen K; Nesbit, M Andrew MA; McMullen, C B Tara CBT
Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.
Scientific Reports
Christie, Kathleen A KA; Courtney, David G DG; DeDionisio, Larry A LA; Shern, Connie Chao CC; De Majumdar, Shyamasree S; Mairs, Laura C LC; Nesbit, M Andrew MA; Moore, C B Tara CBT
Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.
Plos One
Lin, Benjamin R BR; Le, Derek J DJ; Chen, Yabin Y; Wang, Qiwei Q; Chung, D Doug DD; Frausto, Ricardo F RF; Croasdale, Christopher C; Yee, Richard W RW; Hejtmancik, Fielding J FJ; Aldave, Anthony J AJ
CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.
Gene Therapy
Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB
First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.
Case Reports In Ophthalmology
Mazzotta, Cosimo C; Traversi, Claudio C; Raiskup, Frederik F; Rizzo, Caterina Lo CL; Renieri, Alessandra A
Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.
Molecular Vision
Nowińska, Anna K AK; Wylegala, Edward E; Janiszewska, Dominika A DA; Dobrowolski, Dariusz D; Aragona, Pasquale P; Roszkowska, Anna M AM; Puzzolo, Domenico D
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.
Molecular Vision
Niel-Butschi, Florence F; Kantelip, Bernadette B; Iwaszkiewicz, Justyna J; Zoete, Vincent V; Boimard, Mathieu M; Delpech, Marc M; Bourges, Jean-Louis JL; Renard, Gilles G; D'Hermies, François F; Pisella, Pierre-Jean PJ; Hamel, Christian C; Delbosc, Bernard B; Valleix, Sophie S
Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp.
The Journal Of Biological Chemistry
Runager, Kasper K; Basaiawmoit, Rajiv V RV; Deva, Taru T; Andreasen, Maria M; Valnickova, Zuzana Z; Sørensen, Charlotte S CS; Karring, Henrik H; Thøgersen, Ida B IB; Christiansen, Gunna G; Underhaug, Jarl J; Kristensen, Torsten T; Nielsen, Niels Chr NC; Klintworth, Gordon K GK; Otzen, Daniel E DE; Enghild, Jan J JJ