Cargando…

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys

SIMPLE SUMMARY: Gelsolin amyloidosis is a rare autosomal dominant genetic disease, which typically affects the cornea, skin and sometimes other organ systems and is caused by mutations in a gene coding for gelsolin protein (GSN). We describe a novel mutation of GSN gene, p.Glu580Lys, associated with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Potrč, Maja, Volk, Marija, de Rosa, Matteo, Pižem, Jože, Teran, Nataša, Jaklič, Helena, Maver, Aleš, Drnovšek-Olup, Brigita, Bollati, Michela, Vogelnik, Katarina, Hočevar, Alojzija, Gornik, Ana, Pfeifer, Vladimir, Peterlin, Borut, Hawlina, Marko, Fakin, Ana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7865823/ https://www.ncbi.nlm.nih.gov/pubmed/33499149 http://dx.doi.org/10.3390/ijms22031084

Ejemplares similares

Do Early Diagnosis and Glucocorticoid Treatment Decrease the Risk of Permanent Visual Loss and Early Relapses in Giant Cell Arteritis: A Prospective Longitudinal Study
por: Hocevar, Alojzija, et al.
Publicado: (2016)

Optical coherence tomography for an in-vivo study of posterior-capsule-opacification types and their influence on the total-pulse energy required for Nd:YAG capsulotomy: a case series
por: Hawlina, Gregor, et al.
Publicado: (2014)

Transcanalicular diode laser-assisted dacryocystorhinostomy
por: Drnovšek-Olup, Brigita, et al.
Publicado: (2010)

Localized Linear IgA Bullous Dermatosis and a Recurrent Cicatricial Ectropion of the Eyelid: A Case Report of a Sixteen-Year Follow-up
por: Drnovšek-Olup, Brigita, et al.
Publicado: (2022)

Preserved scleral patch graft for unexpected extreme scleral thinning found at the scleral buckling procedure: A case report
por: Stunf, Spela, et al.
Publicado: (2011)

The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene
por: Park, Kyoung-Jin, et al.
Publicado: (2016)

Recombinant human plasma gelsolin (rhu-pGSN) in a patient hospitalized with critical COVID-19 pneumonia
por: Catteeuw, Julie V., et al.
Publicado: (2021)

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15
por: Hadalin, Vlasta, et al.
Publicado: (2021)

Analysis of gelsolin expression pattern in developing chicken embryo reveals high GSN expression level in tissues of neural crest origin
por: Mazur, Antonina Joanna, et al.
Publicado: (2014)

IgA vasculitis in adults: the performance of the EULAR/PRINTO/PRES classification criteria in adults
por: Hočevar, Alojzija, et al.
Publicado: (2016)

Higher glucose level and systemic oxidative stress decrease the mean velocity index of the retinal artery during flickering light stimulation in type 1 diabetes
por: Debelić, Vladimir, et al.
Publicado: (2016)

Production and Secretion of Gelsolin by Both Human Macrophage- and Fibroblast-like Synoviocytes and GSN Modulation in the Synovial Fluid of Patients with Various Forms of Arthritis
por: Feldt, Jessica, et al.
Publicado: (2022)

Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series
por: Petrovic Pajic, Sanja, et al.
Publicado: (2022)

The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy
por: Petrovic Pajic, Sanja, et al.
Publicado: (2022)

A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation
por: Bollati, Michela, et al.
Publicado: (2021)

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene
por: Sajovic, Jana, et al.
Publicado: (2023)

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene
por: Kobal, Nina, et al.
Publicado: (2021)

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database
por: Hočevar, Keli, et al.
Publicado: (2019)

GSN Optical: How to solve the problem
por: Van Praag, A
Publicado: (2000)

Prognostic factors of choroidal melanoma in Slovenia, 1986–2008
por: Jancar, Boris, et al.
Publicado: (2016)

GSN gene frameshift mutations in Alzheimer’s disease
por: Jiang, Yaling, et al.
Publicado: (2023)

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies
por: Tekavčič Pompe, Manca, et al.
Publicado: (2021)

Coupling GSN to SONET-OC48/SDH16
por: Van Praag, A, et al.
Publicado: (2001)

The Significance of 8-oxoGsn in Aging-Related Diseases
por: Zhang, Xinmu, et al.
Publicado: (2020)

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
por: Leonardis, Lea, et al.
Publicado: (2022)

Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
por: Sajovic, Jana, et al.
Publicado: (2022)

Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy
por: Čadonič, Katja, et al.
Publicado: (2023)

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage
por: Sajovic, Jana, et al.
Publicado: (2023)

Rational Design of a Peptidomimetic Inhibitor of Gelsolin Amyloid Aggregation
por: Bollati, Michela, et al.
Publicado: (2022)

Immune mediated events timely associated with COVID-19 vaccine. A comment on article by Badier, et al.: “IgA vasculitis in adult patients following vaccination by ChadOx1 nCoV-19”
por: Hočevar, Alojzija, et al.
Publicado: (2022)

What is GSN and can it be used for high-energy physics data acquisition?
por: Van Praag, A
Publicado: (1997)

GSN - The Goal Structuring Notation: A Structured Approach to Presenting Arguments
por: Spriggs, John
Publicado: (2012)

Oral microbiome and preterm birth
por: Vidmar Šimic, Marijana, et al.
Publicado: (2023)

Research on the Correlation of Serum PCT and Plasma GSN Levels with the Prognosis of Urosepsis Patients
por: Cui, Na, et al.
Publicado: (2020)

The Role of Vitamin A in Retinal Diseases
por: Sajovic, Jana, et al.
Publicado: (2022)

Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A
por: Krašovec, Tjaša, et al.
Publicado: (2023)

Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia
por: Petrovic Pajic, Sanja, et al.
Publicado: (2023)

GSN synergies with actin-related transfer molecular chain to promote invasion and metastasis of HCC
por: Zhou, Yi, et al.
Publicado: (2022)

Kinetic analysis of F-actin depolymerization in the presence of platelet gelsolin and gelsolin-actin complexes
Publicado: (1985)

First impressions of the new Appolo DN580
por: Rademakers, F
Publicado: (1986)

Cannot write session to /tmp/vufind_sessions/sess_tadt1nb6khou6c2uten0j1u3qr