Cargando…

CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy

Macular corneal dystrophy (MCD) is an autosomal recessive disorder mainly caused by gene mutations of carbohydrate sulfotransferase (CHST6) leading to bilateral visual impairment. Because the mechanism underlying this degeneration remains poorly understood, we investigated molecular alterations and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Liyuan, Tang, Xianling, Lv, Xiaolin, Sun, Encheng, Wu, Donglai, Wang, Changlin, Liu, Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals LLC 2017
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707101/ https://www.ncbi.nlm.nih.gov/pubmed/29221207 http://dx.doi.org/10.18632/oncotarget.22028

Ejemplares similares

Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6
por: Sultana, Afia, et al.
Publicado: (2009)

Novel mutations of CHST6 in Iranian patients with macular corneal dystrophy
por: Birgani, Shiva Akbari, et al.
Publicado: (2009)

Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6
por: Dang, Xiuhong, et al.
Publicado: (2009)

A Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene
por: Lee, You Kyung, et al.
Publicado: (2013)

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations
por: Park, Shin Hae, et al.
Publicado: (2015)

Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family
por: Carstens, Nadia, et al.
Publicado: (2016)

A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy
por: Zhang, Jing, et al.
Publicado: (2019)

Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty
por: Li, Dewei, et al.
Publicado: (2021)

Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family
por: Huang, Yanxia, et al.
Publicado: (2021)

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)

Formalin Evokes Calcium Transients from the Endoplasmatic Reticulum
por: Fischer, Michael J. M., et al.
Publicado: (2015)

Environmental and Nutritional “Stressors” and Oligodendrocyte Dysfunction: Role of Mitochondrial and Endoplasmatic Reticulum Impairment
por: Maiuolo, Jessica, et al.
Publicado: (2020)

Functional knock down of VCAM1 in mice mediated by endoplasmatic reticulum retained intrabodies
por: Marschall, Andrea LJ, et al.
Publicado: (2014)

The rough endoplasmatic reticulum is a central nucleation site of siRNA-mediated RNA silencing
por: Stalder, Lukas, et al.
Publicado: (2013)

Live birth rate per transfer is not impacted by the proportion of smooth endoplasmatic reticulum aggregates oocytes
por: Spileers, A, et al.
Publicado: (2023)

Impairment of the autophagy-lysosomal pathway and activation of pyroptosis in macular corneal dystrophy
por: Zheng, Tao, et al.
Publicado: (2020)

Protein kinase R-like endoplasmatic reticulum kinase is a mediator of stretch in ventilator-induced lung injury
por: Dolinay, Tamás, et al.
Publicado: (2018)

Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy
por: Liu, Xuerui, et al.
Publicado: (2021)

Concurrent Macular Corneal Dystrophy and Keratoconus
por: Mohammad-Rabei, Hossein, et al.
Publicado: (2012)

NADPH Oxidase-Dependent Production of Reactive Oxygen Species Induces Endoplasmatic Reticulum Stress in Neutrophil-Like HL60 Cells
por: Kuwabara, Wilson Mitsuo Tatagiba, et al.
Publicado: (2015)

Outcomes of Penetrating Keratoplasty for Macular Corneal Dystrophy
por: Karimian, Farid, et al.
Publicado: (2009)

Bilateral coexistence of keratoconus and macular corneal dystrophy
por: Al-Hamdan, Ghazi, et al.
Publicado: (2009)

Macular dystrophy in a young male with corneal dystrophy among sisters
por: Zachariah, George, et al.
Publicado: (2011)

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

Effector protein Hcp2a of avian pathogenic Escherichia coli interacts with the endoplasmatic reticulum associated RPL23 protein of chicken DF-1 fibroblasts
por: Chen, Zhe, et al.
Publicado: (2023)

Oxidative Stress and Cellular Protein Accumulation Are Present in Keratoconus, Macular Corneal Dystrophy, and Fuchs Endothelial Corneal Dystrophy
por: Vottonen, Linda, et al.
Publicado: (2023)

CHST4 might promote the malignancy of cholangiocarcinoma
por: Zhang, Guanran, et al.
Publicado: (2022)

Macular corneal dystrophy with isolated peripheral Descemet membrane deposits
por: Zhang, Wenlin, et al.
Publicado: (2019)

Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy
por: Wang, Liyuan, et al.
Publicado: (2021)

Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)
por: Kawakita, Masayuki, et al.
Publicado: (2023)

Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
por: Nowińska, Anna, et al.
Publicado: (2021)

CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk
por: Chen, Yi, et al.
Publicado: (2022)

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
por: Minatogawa, Mari, et al.
Publicado: (2022)

Atypical presentation of macular corneal dystrophy managed by Descemet stripping endothelial keratoplasty
por: Chaurasia, Sunita, et al.
Publicado: (2019)

Recurrence of macular corneal dystrophy on the graft 50 years after penetrating keratoplasty
por: Bischoff-Jung, Mona, et al.
Publicado: (2020)

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

Corneal dystrophies
por: Klintworth, Gordon K
Publicado: (2009)

Histological findings of corneal tissue after failed phototherapeutic keratectomy in macular corneal dystrophy – a case report
por: Gassel, Caroline Julia, et al.
Publicado: (2022)

Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report
por: Feng, Lili, et al.
Publicado: (2018)

A novel PIKFYVE mutation in fleck corneal dystrophy
por: Kotoulas, Andreas, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_0ri4snbgfvkka4d2nc35j9ggcf