Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population.
Cho EH et al.
Scientific Reports, 2025
Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report.
Adachi R et al.
Ophthalmic Genetics, 2025
Association between single nucleotide polymorphisms, TGF-β1 promoter methylation, and polycystic ovary syndrome.
Gao M et al.
Bmc Pregnancy and Childbirth, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
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
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature.
Döring C et al.
Frontiers in Oncology, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China.
Li T et al.
Ophthalmic Genetics, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree.
Li F et al.
Indian Journal of Ophthalmology, 2022
Mutation-induced dimerization of transforming growth factor-β-induced protein may drive protein aggregation in granular corneal dystrophy.
Nielsen NS et al.
The Journal of Biological Chemistry, 2021
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
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.
Mohammadi A et al.
Iranian Journal of Basic Medical Sciences, 2020
Association of unilateral lattice corneal dystrophy on slit lamp and bilateral confocal microscopy features with H572R mutation in the TGFBI gene.
De Sousa Peixoto R et al.
Eye (london, England), 2019
Transforming growth factor beta-induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients.
Campos-Mollo E et al.
Clinical & Experimental Ophthalmology, 2019
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V et al.
Human Mutation, 2019
Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.
Cao WP et al.
International Journal of Ophthalmology, 2017
Lacritin and other autophagy associated proteins in ocular surface health.
Karnati R et al.
Experimental Eye Research, 2016
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.
Lakshminarayanan R et al.
The Ocular Surface, 2014
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
Unilateral Variant of Late-Onset Lattice Corneal Dystrophy With the Pro501Thr Mutation in the TGFBI Gene Without Deposits in the Unaffected Cornea Using Confocal Microscopy.
Kojima Y et al.
Cornea, 2013
Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.
Song FW et al.
Journal of Zhejiang University. Science. B, 2013
In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies.
Yam GH et al.
Investigative Ophthalmology & Visual Science, 2012
Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.
Hou YC et al.
Molecular Vision, 2012
TGFBI gene mutations in a Korean population with corneal dystrophy.
Cho KJ et al.
Molecular Vision, 2012
Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.
Long Y et al.
Journal of Zhejiang University. Science. B, 2011
Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor.
Fukuoka H et al.
Investigative Ophthalmology & Visual Science, 2010
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.
Yang J et al.
Molecular Vision, 2010
TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
Ma K et al.
Molecular Vision, 2010
TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.
Gruenauer-Kloevekorn C et al.
The British Journal of Ophthalmology, 2009
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
Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy.
Pampukha VM et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2009
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
Romero P et al.
Molecular Vision, 2008
[Analysis of mutation in KRT12 gene in a Chinese family with Meesmann's corneal dystrophy].
Wang LJ et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2007
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect.
Tsujikawa K et al.
Journal of Human Genetics, 2007
Genetics of corneal dystrophies: the evolving landscape.
Pieramici SF et al.
Current Opinion in Ophthalmology, 2006
TGFBI gene mutations in corneal dystrophies.
Kannabiran C et al.
Human Mutation, 2006
Recurrent granular dystrophy of the cornea: an unusual case.
Frising M et al.
Cornea, 2006
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.
Yu P et al.
Journal of Genetics, 2006
[Advances in research on the association between single nucleotide polymorphisms of the DNA repair genes and resistance to platinum-based chemotherapy].
Wei J et al.
Zhonghua Zhong Liu Za Zhi [chinese Journal of Oncology], 2006
[Molecular genetic study on patients with lattice corneal dystrophy in China].
Dong WL et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI.
Park KS et al.
Human Mutation, 2005