Cargando…

A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome

Alport syndrome (AS) is a severe inherited glomerulopathy caused by mutations in the genes encoding the α-chains of type-IV collagen, the most abundant component of the extracellular glomerular basement membrane (GBM). Currently most AS mouse models are knockout models for one of the collagen-IV gen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Odiatis, Christoforos, Savva, Isavella, Pieri, Myrtani, Ioannou, Pavlos, Petrou, Petros, Papagregoriou, Gregory, Antoniadou, Kyriaki, Makrides, Neoklis, Stefanou, Charalambos, Ljubanović, Danica Galešić, Nikolaou, Georgios, Borza, Dorin-Bogdan, Stylianou, Kostas, Gross, Oliver, Deltas, Constantinos
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930875/ https://www.ncbi.nlm.nih.gov/pubmed/33718859 http://dx.doi.org/10.1016/j.mbplus.2020.100053

Ejemplares similares

A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome
por: Nikolaou, Stavros, et al.
Publicado: (2022)

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
por: Voskarides, Konstantinos, et al.
Publicado: (2018)

Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series
por: Šenjug, Petar, et al.
Publicado: (2021)

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

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
por: Šenjug, Petar, et al.
Publicado: (2019)

Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population
por: Horaček, Matija, et al.
Publicado: (2023)

The 2019 and 2021 International Workshops on Alport Syndrome
por: Daga, Sergio, et al.
Publicado: (2022)

Editorial: Collagen IV nephropathies: Alport syndrome and beyond
por: Borza, Dorin-Bogdan, et al.
Publicado: (2022)

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing
por: Papazachariou, Louiza, et al.
Publicado: (2014)

Immune-mediated diseases after coronavirus disease 2019 vaccination: rare but important complication
por: Zagorec, Nikola, et al.
Publicado: (2022)

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome
por: Gross, Oliver, et al.
Publicado: (2017)

De novo immune complex–mediated membranoproliferative glomerulonephritis after COVID-19 vaccination
por: Zagorec, Nikola, et al.
Publicado: (2023)

A CHILD WITH DENSE DEPOSIT DISEASE AND DECREASED CLASSIC COMPLEMENT PATHWAY ACTIVITY
por: Trutin, Ivana, et al.
Publicado: (2021)

Crescentic Glomerulonephritis Due to Enterococcal Endocarditis
por: Klarić, Dragan, et al.
Publicado: (2023)

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
por: Savige, Judy, et al.
Publicado: (2021)

PULMONARY HEMORRHAGE AND CRESCENTIC GLOMERULONEPHRITIS IN A PATIENT WITH SEROPOSITIVE ANTI-GLOMERULAR BASEMENT MEMBRANE DISEASE AND ANTI-NEUTROPHIL CYTOPLASMIC ANTIBODIES
por: Sreter, Katherina Bernadette, et al.
Publicado: (2022)

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
por: Gibson, Joel T., et al.
Publicado: (2022)

A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery, adaptation and apoptosis
por: Erguler, Kamil, et al.
Publicado: (2013)

IgM as a novel predictor of disease progression in secondary focal segmental glomerulosclerosis
por: Pačić, Arijana, et al.
Publicado: (2017)

Resistant and Relapsing Collapsing Glomerulopathy Successfully Treated with Rituximab—A Case Report
por: Zagorec, Nikola, et al.
Publicado: (2022)

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece
por: Hadjipanagi, Despina, et al.
Publicado: (2022)

The Onset of Systemic Oxidative Stress Associated with the Accumulation of Lipid Peroxidation Product Acrolein in the Skin of Patients with Small-Vessel Vasculitis
por: Sredoja Tisma, Vesna, et al.
Publicado: (2021)

COL4A6 is dispensable for autosomal recessive Alport syndrome
por: Murata, Tomohiro, et al.
Publicado: (2016)

Alport Syndrome With Kidney Cysts Is Still Alport Syndrome
por: Savige, Judy, et al.
Publicado: (2021)

Effect of mycophenolate mofetil on progression of interstitial fibrosis and tubular atrophy after kidney transplantation: a retrospective study
por: Mihovilović, Karlo, et al.
Publicado: (2014)

Expression Pattern of α-Tubulin, Inversin and Its Target Dishevelled-1 and Morphology of Primary Cilia in Normal Human Kidney Development and Diseases
por: Solic, Ivana, et al.
Publicado: (2021)

Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome
por: Kamura, Misato, et al.
Publicado: (2020)

Women and Alport syndrome
por: Rheault, Michelle N.
Publicado: (2011)

Alport's Syndrome in Pregnancy
por: Mehta, Suchita, et al.
Publicado: (2013)

Jack of all trades, master of each: the diversity of fibroblast growth factor signalling in eye development
por: Makrides, Neoklis, et al.
Publicado: (2022)

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
por: Liu, Jian-Hong, et al.
Publicado: (2017)

Mechanism of cystogenesis in nephrotic kidneys: a histopathological study
por: Saraga, Marijan, et al.
Publicado: (2014)

Creation of X-linked Alport syndrome rat model with Col4a5 deficiency
por: Namba, Masumi, et al.
Publicado: (2021)

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
por: Yamamura, Tomohiko, et al.
Publicado: (2022)

Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks
por: Zaravinos, Apostolos, et al.
Publicado: (2014)

Sindrome de Alport : revisión bibliográfica
por: Velasco Bello, Fernando Mario
Publicado: (1994)

Alternative Pathway Dysregulation and the Conundrum of Complement Activation by IgG4 Immune Complexes in Membranous Nephropathy
por: Borza, Dorin-Bogdan
Publicado: (2016)

Alport syndrome: facts and opinions
por: Kashtan, Clifford
Publicado: (2017)

Genetic diagnosis of Alport syndrome
por: Cheong, Hae Il
Publicado: (2019)

Alport Syndrome Classification and Management
por: Warady, Bradley A., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_2jva4bvbd5s0fdcvga3oa0sp3d