Cargando…

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma

Detalles Bibliográficos
Autores principales:	Souzeau, Emmanuelle, Weisschuh, Nicole, Craig, Jamie E., Pasutto, Francesca, Koch, Karl-Wilhelm
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Comment
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998521/ https://www.ncbi.nlm.nih.gov/pubmed/33801495 http://dx.doi.org/10.3390/genes12030359

Ejemplares similares

Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish
por: Morales-Cámara, Samuel, et al.
Publicado: (2020)

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
por: Souzeau, Emmanuelle, et al.
Publicado: (2019)

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population
por: Wolf, Christiane, et al.
Publicado: (2010)

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study
por: Wolf, Christiane, et al.
Publicado: (2009)

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma
por: Souzeau, Emmanuelle, et al.
Publicado: (2016)

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
por: Souzeau, Emmanuelle, et al.
Publicado: (2015)

Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD
por: Tang, Suzhen, et al.
Publicado: (2019)

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma
por: Young, Thomas K., et al.
Publicado: (2012)

Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants
por: Souzeau, Emmanuelle, et al.
Publicado: (2020)

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
por: Mauri, Lucia, et al.
Publicado: (2016)

Quality of life in children with glaucoma: a qualitative interview study in Australia
por: Knight, Lachlan S W, et al.
Publicado: (2022)

Rare variants in optic disc area gene CARD10 enriched in primary open‐angle glaucoma
por: Zhou, Tiger, et al.
Publicado: (2016)

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma
por: Young, Terri L., et al.
Publicado: (2020)

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals
por: Hollitt, Georgina L., et al.
Publicado: (2022)

Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A
por: Dell’Orco, Daniele, et al.
Publicado: (2019)

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase
por: Biasi, Amedeo, et al.
Publicado: (2021)

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations
por: Manes, Gaël, et al.
Publicado: (2017)

Paneth cell proteins DEFA6 and GUCA2A as tissue markers in necrotizing enterocolitis
por: Hoffsten, Alice, et al.
Publicado: (2023)

Normal-tension glaucoma is associated with cognitive impairment
por: Mullany, Sean, et al.
Publicado: (2022)

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF
por: Siggs, Owen M., et al.
Publicado: (2019)

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration
por: Cuellar-Partida, Gabriel, et al.
Publicado: (2016)

Integrated Analysis of Oncogenic Networks in Colorectal Cancer Identifies GUCA2A as a Molecular Marker
por: Zhang, Hui, et al.
Publicado: (2019)

The COVID-19 pandemic will redefine the future delivery of glaucoma care
por: Jayaram, Hari, et al.
Publicado: (2020)

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity
por: Chen, Xue, et al.
Publicado: (2017)

Lower risk of Multi-system inflammatory syndrome in children (MIS-C) with the omicron variant
por: Lopez, Laura, et al.
Publicado: (2022)

Electrical Impedance Tomography in Congenital Diaphragmatic Hernia
por: Comparini, Rafael Gonçalves, et al.
Publicado: (2021)

Could Young Cerebrospinal Fluid Combat Glaucoma? Comment on Lee et al. Association between Optic Nerve Sheath Diameter and Lamina Cribrosa Morphology in Normal-Tension Glaucoma. J. Clin. Med. 2023, 12, 360
por: Wostyn, Peter
Publicado: (2023)

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients
por: Kamenarova, Kunka, et al.
Publicado: (2013)

Variations in the WDR36 gene in German patients with normal tension glaucoma
por: Weisschuh, Nicole, et al.
Publicado: (2007)

COVID-19 vaccine effectiveness against the omicron (BA.2) variant in England
por: Kirsebom, Freja C M, et al.
Publicado: (2022)

Primary congenital glaucoma surgery: outcomes and visual function
por: Gusson, Elena, et al.
Publicado: (2021)

Association of Genetic Variants with Primary Angle Closure Glaucoma in Two Different Populations
por: Awadalla, Mona S., et al.
Publicado: (2013)

Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration
por: Hollitt, Georgina L, et al.
Publicado: (2023)

Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers
por: Finsterer, Josef, et al.
Publicado: (2018)

A Case of Primary Congenital Glaucoma
por: Razeghinejad, Mohammad-Reza, et al.
Publicado: (2013)

Review on the Management of Primary Congenital Glaucoma
por: Yu Chan, Julia Yan, et al.
Publicado: (2015)

The Genetics and the Genomics of Primary Congenital Glaucoma
por: Cascella, Raffaella, et al.
Publicado: (2015)

Primary congenital glaucoma: An updated review
por: Badawi, Abdulrahman H., et al.
Publicado: (2019)

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)
por: Javadiyan, Shari, et al.
Publicado: (2017)

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
por: Zobor, Ditta, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_qtt4cq00483a1o03hserb3lefg