Cargando…

A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I

PURPOSE: To identify mutations within the TGFBI gene in a Chinese family with lattice corneal dystrophy type I (LCD I). METHODS: Genomic DNA of three affected, four unaffected family members and 50 normal individuals was extracted from peripheral leukocytes. All exons of TGFBI were amplified by poly...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Chunmei, Zeng, Guang, Lin, Hui, Li, Dandan, Zhao, Liming, Zhou, Nan, Qi, Yanhua
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786890/ https://www.ncbi.nlm.nih.gov/pubmed/19956413

Ejemplares similares

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

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)

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

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

A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene
por: Kim, Jinsun, et al.
Publicado: (2014)

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

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

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)

Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene
por: Afshari, Natalie A., et al.
Publicado: (2008)

Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy
por: Zhong, Xingwu, et al.
Publicado: (2010)

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)

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)

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

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
por: Jun, Ikhyun, 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)

De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA
por: Ji, Yong Woo, et al.
Publicado: (2022)

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

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)

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3)
por: Romero, Pablo, et al.
Publicado: (2010)

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

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

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)

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy
por: Jaakkola, Aino Maaria, et al.
Publicado: (2021)

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

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

Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2
por: Yamazoe, Katsuya, et al.
Publicado: (2015)

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)

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)

Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6
por: Yaylacioglu Tuncay, Fulya, et al.
Publicado: (2016)

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer
por: Wheeldon, Catherine E., et al.
Publicado: (2008)

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree
por: Yu, Yinhui, et al.
Publicado: (2015)

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
por: Mohammadi, Aliasgar, et al.
Publicado: (2020)

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

Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type
por: Casal, I., et al.
Publicado: (2017)

An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree
por: Li, Feng, et al.
Publicado: (2022)

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

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)

Cannot write session to /tmp/vufind_sessions/sess_405mbmo1f437u1rbgpil6pbcc7