Cargando…

Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2

PURPOSE: To investigate the phenotype and predisposing factors of a granular corneal dystrophy type 2 transgenic mouse model. METHODS: Human TGFBI cDNA with R124H mutation was used to make a transgenic mouse expressing human protein (TGFBI(R124H) mouse). Reverse transcription PCR (RT-PCR) was perfor...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yamazoe, Katsuya, Yoshida, Satoru, Yasuda, Miyuki, Hatou, Shin, Inagaki, Emi, Ogawa, Yoko, Tsubota, Kazuo, Shimmura, Shigeto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511001/ https://www.ncbi.nlm.nih.gov/pubmed/26197481 http://dx.doi.org/10.1371/journal.pone.0133397

Ejemplares similares

The Semaphorin 3A inhibitor SM-345431 preserves corneal nerve and epithelial integrity in a murine dry eye model
por: Yamazaki, Risa, et al.
Publicado: (2017)

A Rabbit Corneal Endothelial Dysfunction Model Using Endothelial-Mesenchymal Transformed Cells
por: Yamashita, Kazuya, et al.
Publicado: (2018)

Non-apoptotic regulated cell death in Fuchs endothelial corneal dystrophy
por: Sakakura, Saki, et al.
Publicado: (2023)

Skin‐Derived Precursors as a Source of Progenitors for Corneal Endothelial Regeneration
por: Inagaki, Emi, et al.
Publicado: (2017)

Four cases of corneal perforation in patients with chronic graft-versus-host disease
por: Inagaki, Emi, et al.
Publicado: (2011)

Long-term homeostasis and wound healing in an in vitro epithelial stem cell niche model
por: Miyashita, Hideyuki, et al.
Publicado: (2017)

Immunological Properties of Neural Crest Cells Derived from Human Induced Pluripotent Stem Cells
por: Fujii, Shota, et al.
Publicado: (2019)

Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population
por: Park, Jong Eun, et al.
Publicado: (2021)

An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree
por: Gu, Zhensheng, et al.
Publicado: (2011)

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
por: Jun, Ikhyun, et al.
Publicado: (2021)

Review: corneal endothelial cell derivation methods from ES/iPS cells
por: Hatou, Shin, et al.
Publicado: (2019)

Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies
por: Yagi-Yaguchi, Yukari, et al.
Publicado: (2016)

MSCs Become Collagen-Type I Producing Cells with Different Phenotype in Allogeneic and Syngeneic Bone Marrow Transplantation
por: Rusch, Robert Maximilian, et al.
Publicado: (2021)

The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype
por: Zhu, Yanan, et al.
Publicado: (2011)

Molecular genetics of Chinese families with TGFBI corneal dystrophies
por: Zhang, Ting, et al.
Publicado: (2011)

Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing
por: Chao-Shern, Connie, et al.
Publicado: (2019)

Generation of Stratified Squamous Epithelial Progenitor Cells from Mouse Induced Pluripotent Stem Cells
por: Yoshida, Satoru, et al.
Publicado: (2011)

Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR/Cas9-mediated homology-directed repair
por: Kitamoto, Kohdai, et al.
Publicado: (2020)

Nucleostemin as a possible progenitor marker of corneal epithelial cells
por: Kawashima, Motoko, et al.
Publicado: (2009)

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene
por: Romero, Pablo, et al.
Publicado: (2008)

New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene
por: Qiu, Wen-Ya, et al.
Publicado: (2016)

Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients
por: Nowińska, Anna K., et al.
Publicado: (2011)

TGFBI gene mutations in a Korean population with corneal dystrophy
por: Cho, Kyong Jin, et al.
Publicado: (2012)

Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair
por: Taketani, Yukako, et al.
Publicado: (2017)

Corneal irregularity and visual function using anterior segment optical coherence tomography in TGFBI corneal dystrophy
por: Abe, Yuito, et al.
Publicado: (2022)

Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies
por: Yamada, Naoyuki, et al.
Publicado: (2009)

Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations
por: Cao, Wenping, et al.
Publicado: (2009)

Phenotype–genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan
por: Hou, Yu-Chih, et al.
Publicado: (2012)

Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies
por: Song, Ju Sun, et al.
Publicado: (2015)

Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy
por: Zhao, Feng, et al.
Publicado: (2019)

The Anterior Eye Chamber as a Visible Medium for In Vivo Tumorigenicity Tests
por: Inagaki, Emi, et al.
Publicado: (2022)

Investigation of TGFBI (Transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region
por: Malkondu, Fatma, et al.
Publicado: (2020)

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families
por: Liu, Zhe, et al.
Publicado: (2008)

Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature
por: Yang, Juhua, et al.
Publicado: (2010)

TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China
por: Zeng, Li, et al.
Publicado: (2017)

TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy
por: Ma, Ke, et al.
Publicado: (2010)

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies
por: Paliwal, Preeti, et al.
Publicado: (2010)

An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI
por: Li, Dandan, et al.
Publicado: (2008)

Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy
por: Xiang, Qin, et al.
Publicado: (2019)

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
por: Benbouchta, Yahya, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ge6ln42i5lrmasji4d37ugm5k6