Cargando…

Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma

Glaucoma is known to induce visual impairment and blindness. The aim of the present study was to determine the clinical and genetic findings of a family with primary open-angle glaucoma (POAG). A family diagnosed with glaucoma was examined clinically and followed up for five years. Genomic DNA was e...

Descripción completa

Detalles Bibliográficos
Autores principales:	WANG, FENGYUN, LI, YANG, LAN, LAN, LI, BO, LIN, LI, LU, XIAOHE, LI, JIPING
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2015
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380197/ https://www.ncbi.nlm.nih.gov/pubmed/25777973 http://dx.doi.org/10.3892/ijmm.2015.2138

Ejemplares similares

Characterization of a novel mutation in the MYOC gene in a Chinese family with primary open-angle glaucoma
por: Fan, Wanlin, et al.
Publicado: (2020)

Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma
por: Sohn, Seongsoo, et al.
Publicado: (2010)

Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma
por: Zhao, Xin, et al.
Publicado: (2010)

Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma
por: Mimiwati, Z, et al.
Publicado: (2014)

Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population
por: Mendoza-Reinoso, Veronica, et al.
Publicado: (2012)

Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype
por: Zhuo, Ye-Hong, et al.
Publicado: (2008)

Role of MYOC and OPTN sequence variations in Spanish patients with Primary Open-Angle Glaucoma
por: López-Martínez, Francisco, et al.
Publicado: (2007)

RNA interference as a gene silencing therapy for mutant MYOC protein in primary open angle glaucoma
por: Li, Mao, et al.
Publicado: (2009)

A novel MYOC heterzygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma
por: Cai, Su-ping, et al.
Publicado: (2012)

Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma
por: Chen, Jun, et al.
Publicado: (2011)

Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece
por: Kitsos, George, et al.
Publicado: (2010)

Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma
por: Marques, Ana Maria, et al.
Publicado: (2018)

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
por: Criscione, June, et al.
Publicado: (2019)

Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso
por: Traoré, Lassina, et al.
Publicado: (2023)

Another Piece of the Puzzle: MYOC and Myocilin Glaucoma
por: Fini, M. Elizabeth
Publicado: (2017)

MYOC and FOXC1 gene analysis in primary congenital glaucoma
por: Tanwar, Mukesh, et al.
Publicado: (2010)

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing
por: Huang, Chukai, et al.
Publicado: (2018)

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma
por: Kim, Hee-Jung, et al.
Publicado: (2011)

Role of CYP1B1, MYOC, OPTN and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients
por: Kumar, Arun, et al.
Publicado: (2007)

Cross-talk between MYOC p. Y437H mutation and TGF-β2 in the pathology of glaucoma
por: Yang, Yang, et al.
Publicado: (2020)

Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: Three novel mutations in CYP1B1
por: Hilal, Latifa, et al.
Publicado: (2010)

Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma
por: Wei, Yan-Tao, et al.
Publicado: (2011)

Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma
por: Xie, Xiaobing, et al.
Publicado: (2008)

Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
por: Chen, Xiaoming, et al.
Publicado: (2009)

A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma
por: Nazir, Sabeen, et al.
Publicado: (2018)

The Effects of Trabeculectomy on Pseudoexfoliation Glaucoma and Primary Open-Angle Glaucoma
por: Li, Fan, et al.
Publicado: (2020)

Effect of Myricetin on Primary Open-angle Glaucoma
por: Yang, Qing, et al.
Publicado: (2018)

Contributions of MYOC and CYP1B1 mutations to JOAG
por: Bayat, Behnaz, et al.
Publicado: (2008)

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family
por: Xiao, Zheng, et al.
Publicado: (2009)

Familial aggregation of primary open angle glaucoma in Shanghai, China
por: Kong, Xiangmei, et al.
Publicado: (2013)

C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family
por: Wang, Fengyun, et al.
Publicado: (2015)

Lasers in primary open angle glaucoma
por: Sihota, Ramanjit
Publicado: (2011)

Neuroinflammation in Primary Open-Angle Glaucoma
por: Vernazza, Stefania, et al.
Publicado: (2020)

Association between Platelet Parameters and Glaucoma Severity in Primary Open-Angle Glaucoma
por: Ma, Yi, et al.
Publicado: (2019)

Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma
por: Liao, Rong-Feng, et al.
Publicado: (2016)

Estimated Cerebrospina Fluid Pressure and the 5-Year Incidence of Primary Open-Angle Glaucoma in a Chinese Population
por: Li, Lan, et al.
Publicado: (2016)

The anterior scleral thickness in eyes with primary open-angle glaucoma
por: Yan, Xiaoqin, et al.
Publicado: (2022)

Vessel Density in the Macular and Peripapillary Areas in Preperimetric Glaucoma to Various Stages of Primary Open-Angle Glaucoma in Taiwan
por: Ko, Chung-Kuang, et al.
Publicado: (2021)

Glaucomatous MYOC mutations activate the IL-1/NF-κB inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells
por: Itakura, Tatsuo, et al.
Publicado: (2015)

Clinical Analysis of Macular Choroidal Thickness in Pseudoexfoliative Glaucoma and Primary Open-Angle Glaucoma
por: Li, Fan, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_aqv0bfbukuahlumnnl05iio0au