Cargando…

RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected

BACKGROUND: Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of uncertain significance (VUS), to clinical ph...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bjeloš, Mirjana, Bušić, Mladen, Ćurić, Ana, Bosnar, Damir, Šarić, Borna, Marković, Leon, Elabjer, Biljana Kuzmanović, Rak, Benedict
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993575/ https://www.ncbi.nlm.nih.gov/pubmed/35402056 http://dx.doi.org/10.1155/2022/5710080

Ejemplares similares

RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy
por: Bjeloš, Mirjana, et al.
Publicado: (2022)

The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy
por: Bjeloš, Mirjana, et al.
Publicado: (2022)

Single-Stage Orbital Socket Reconstruction Using the Oversized Dermis Fat Graft and the 22 mm Silicone Orbital Implant after an Extended Enucleation
por: Kuzmanović Elabjer, Biljana, et al.
Publicado: (2018)

Novel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype–Genotype Correlation Revealed Likely Benign Clinical Significance
por: Bjeloš, Mirjana, et al.
Publicado: (2023)

Long-Term Functional Hyperemia after Uncomplicated Phacoemulsification: Benefits beyond Restoring Vision
por: Ćurić, Ana, et al.
Publicado: (2022)

Physical Incompatibility between Vancomycin and Viscoelastic Mimicking Acute Endophthalmitis: The First Report
por: Kuzmanović Elabjer, Biljana, et al.
Publicado: (2019)

Amblyopia screening: a new screening protocol implemented in Croatia
por: Bušić, Mladen, et al.
Publicado: (2016)

Dermis-Fat Graft for Correction of Recurrent Severe Upper Eyelid Retraction in Graves’ Orbitopathy
por: Kuzmanović Elabjer, Biljana, et al.
Publicado: (2018)

Central retinal artery and vein occlusion as a complication of persistent hyaloid artery – a case report
por: Bjeloš, Mirjana, et al.
Publicado: (2020)

Comment on the Article: Comparison of the Pediatric Vision Screening Program in 18 Countries Across Five Continents
por: Bušić, Mladen, et al.
Publicado: (2020)

A Retrospective Data Review Confirms That Topical Preservative-Free Hydrocortisone Improves Inflammation in Dry Eye Disease
por: Kuzmanović Elabjer, Biljana, et al.
Publicado: (2020)

Macular perfusion normative data acquired with optical coherence tomography angiography in healthy four-year-old Caucasian children
por: Bajtl, Dunja, et al.
Publicado: (2021)

Macular perfusion analysed by optical coherence tomography angiography after uncomplicated phacoemulsification: benefits beyond restoring vision
por: Križanović, Ana, et al.
Publicado: (2021)

The New Face of the Switch Flap in the Reconstruction of a Large Upper Eyelid Defect
por: Kuzmanović Elabjer, Biljana, et al.
Publicado: (2022)

Zagreb Amblyopia Preschool Screening Study: near and distance visual acuity testing increase the diagnostic accuracy of screening for amblyopia
por: Bušić, Mladen, et al.
Publicado: (2016)

Rare case of nasal cavity chondrosarcoma presenting only with unilateral decreased vision
por: Kos, Eva, et al.
Publicado: (2022)

SPECIFIC CHARACTERISTICS OF OCULAR BIOMETRIC FACTORS IN GLAUCOMATOUS PATIENTS WITH PSEUDOEXFOLIATIVE SYNDROME AS MEASURED BY OPTICAL LOW-COHERENCE REFLECTOMETRY
por: Janjetović, Željka, et al.
Publicado: (2019)

EDN1 Lys198Asn is associated with diabetic retinopathy in type 2 diabetes
por: Li, Haitao, et al.
Publicado: (2008)

Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3
por: Korkmaz, Hüseyin Anıl, et al.
Publicado: (2012)

Vitreous amyloidosis caused by a Lys55Asn variant in transthyretin: A case report
por: Tan, Yue, et al.
Publicado: (2022)

A Simple & Convenient Solid Phase Synthesis of Bacterial Origin Octapeptide Sequence, Glu-Asp-Gly-Asn-Lys-Pro-Gly-Lys-OH
por: Khan, Riaz A.
Publicado: (2010)

Engineering a Lys-Asn isopeptide bond into an immunoglobulin-like protein domain enhances its stability
por: Kwon, Hanna, et al.
Publicado: (2017)

XPD Asp312Asn and Lys751Gln polymorphisms and breast cancer susceptibility: A meta-analysis
por: Yan, Yulan, et al.
Publicado: (2013)

Association between Lys198Asn polymorphism of endothelin‐1 gene and ischemic stroke: A meta‐analysis
por: Nepal, Gaurav, et al.
Publicado: (2019)

Case Report: Vitreous Amyloidosis Caused by a TTR Lys55Asn Mutation With Intraoperative Suprachoroidal Hemorrhage
por: Xu, Qing, et al.
Publicado: (2022)

A Single Point Mutation, Asn(16)→Lys, Dictates the Temperature-Sensitivity of the Reovirus tsG453 Mutant
por: Glover, Kathleen K. M., et al.
Publicado: (2021)

Retinal Ciliopathy in the Patient with Transplanted Kidney: Case Report
por: Bućan, Ivona, et al.
Publicado: (2022)

Letter to the Editor: Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome
por: Bosnar, Damir, et al.
Publicado: (2023)

Do Gender, Age, Body Mass and Height Influence Eye Biometrical Properties in Young Adults? A Pilot Study
por: Kolačko, Štefanija, et al.
Publicado: (2021)

Association Between the Asp312Asn, Lys751Gln, and Arg156Arg Polymorphisms in XPD and the Risk of Prostate Cancer
por: Fu, Weijin, et al.
Publicado: (2017)

High-level expression, purification, and enzymatic characterization of truncated human plasminogen (Lys531-Asn791) in the methylotrophic yeast Pichia pastoris
por: Liu, Rongzeng, et al.
Publicado: (2015)

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
por: van der Linde, I. H. M., et al.
Publicado: (2017)

Positive Association between EDN1 rs5370 (Lys198Asn) Polymorphism and Large Artery Stroke in a Ukrainian Population
por: Dubovyk, Yevhen I., et al.
Publicado: (2018)

A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency
por: Chang, Mario C, et al.
Publicado: (2023)

Association Between XPD Lys751Gln and Asp312Asn Polymorphisms and Hepatocellular Carcinoma Risk: A Systematic Review And Meta-Analysis
por: Peng, Qiliu, et al.
Publicado: (2014)

393 Vancomycin Dosing in Obese Patients
por: Alquwaizani, Mohammed, et al.
Publicado: (2014)

393. Isavuconazole in the Treatment of Coccidioidal Meningitis
por: Heidari, Arash, et al.
Publicado: (2018)

MON-393 Neuroblastoma Masquerading as Pheochromocytoma
por: Sultan, Rahaf, et al.
Publicado: (2019)

Asn(12) and Asn(278): Critical Residues for In Vitro Biological Activity of Reteplase
por: Mandi, Naganath, et al.
Publicado: (2010)

Association of the Asp312Asn and Lys751Gln polymorphisms in the XPD gene with the risk of non-Hodgkin’s lymphoma: evidence from a meta-analysis
por: Chen, Shen, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_tugk03ttnh0sg0j4s7m8f1cq9e