Cargando…

Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population

Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) are part of the spectrum of kidney disorders caused by pathogenic variants in α3, α4, or α5 chains of the collagen type IV, the major structural component of the glomerular basement membrane (GBM). Using targeted next-generation sequ...

Descripción completa

Detalles Bibliográficos
Autores principales:	Horaček, Matija, Martić, Tamara Nikuševa, Šenjug, Petar, Perica, Marija Šenjug, Oroz, Maja, Kuzmac, Sania, Klarić, Dragan, Glavina Durdov, Merica, Saraga, Marijan, Milošević, Danko, Batinić, Danica, Ćorić, Marijana, Paić, Frane, Ljubanović, Danica Galešić
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9901899/ https://www.ncbi.nlm.nih.gov/pubmed/35880347 http://dx.doi.org/10.17305/bjbms.2022.7567

Ejemplares similares

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)

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

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

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

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

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

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

Epidemiology of 10-year paediatric renal biopsies in the region of southern Croatia
por: Arapović, Adela, et al.
Publicado: (2020)

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)

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

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

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)

Connexin Signaling in the Juxtaglomerular Apparatus (JGA) of Developing, Postnatal Healthy and Nephrotic Human Kidneys
por: Kosovic, Ivona, et al.
Publicado: (2020)

Spatio-temporal patterning of different connexins in developing and postnatal human kidneys and in nephrotic syndrome of the Finnish type (CNF)
por: Kosovic, Ivona, et al.
Publicado: (2020)

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

The interstitial expression of alpha-smooth muscle actin in glomerulonephritis is associated with renal function
por: Novakovic, Zana Saratlija, et al.
Publicado: (2012)

Expression of Pannexin 1 in the Human Kidney during Embryonal, Early Fetal and Postnatal Development and Its Prognostic Significance in Diabetic Nephropathy
por: Jeličić, Ivo, et al.
Publicado: (2022)

A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome
por: Odiatis, Christoforos, et al.
Publicado: (2020)

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

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

A Case of Unilateral Otologic Symptoms as Initial Manifestations of Granulomatosis With Polyangiitis
por: Batinović, Franko, et al.
Publicado: (2023)

Carriage of Neisseria meningitidis Serogroup W135 ST-2881
por: Boisier, Pascal, et al.
Publicado: (2006)

THE FREQUENCY OF FOLLICLE-STIMULATING HORMONE RECEPTOR 2039A>G GENE POLYMORPHISM AND THE RISK OF MALE INFERTILITY IN ALBANIAN POPULATION
por: Shkelzen, Elezaj, et al.
Publicado: (2020)

The Utility of Thyroid Transcription Factor 1 (TTF-1), Napsin A, Excision Repair Cross-Complementing 1 (ERCC1), Anaplastic Lymphoma Kinase (ALK) and the Epidermal Growth Factor Receptor (EGFR) Expression in Small Biopsy in Prognosis of Patients with Lung Adenocarcinoma – A Retrograde Single-Center Study from Croatia
por: Burazer, Marina Piljić, et al.
Publicado: (2017)

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)

Expression and localization of DAB1 and Reelin during normal human kidney development
por: Racetin, Anita, et al.
Publicado: (2019)

Classical Hodgkin Lymphoma with Positive Epstein-Barr Virus Status is Associated with More FOXP3 Regulatory T Cells
por: Pavlovic, Antonia, et al.
Publicado: (2016)

Expression of DENDRIN in several glomerular diseases and correlation to pathological parameters and renal failure - preliminary study
por: Mizdrak, Maja, et al.
Publicado: (2018)

Histological Type, Cytotoxic T Cells and Macrophages in the Tumor Microenvironment Affect the PD-L1 Status of Gastric Cancer
por: Ivanović, Tomislav, et al.
Publicado: (2023)

A Homozygous Dab1(−/−) Is a Potential Novel Cause of Autosomal Recessive Congenital Anomalies of the Mice Kidney and Urinary Tract
por: Racetin, Anita, et al.
Publicado: (2021)

Low ERCC1 expression is a good predictive marker in lung adenocarcinoma patients receiving chemotherapy based on platinum in all TNM stages - a single-center study
por: Piljić Burazer, Marina, et al.
Publicado: (2019)

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)

Testing the atmospheric dispersion model of CSA N288.1 with site-specific data
por: Chouhan, S L, et al.
Publicado: (2001)

Aberrant expression of SFRP1, SFRP3, DVL2 and DVL3 Wnt signaling pathway components in diffuse gastric carcinoma
por: Sremac, Maja, et al.
Publicado: (2021)

IMP3 can predict aggressive behaviour of lung adenocarcinoma
por: Beljan Perak, Renata, et al.
Publicado: (2012)

Renal thromboembolism during treatment with recombinant activated factor VII (rFVIIa) in a child with hemophilia B with factor IX inhibitors
por: Milošević, Danko, et al.
Publicado: (2014)

Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters
por: Trutin, Ivana, et al.
Publicado: (2023)

Expression of Connexins 37, 40 and 45, Pannexin 1 and Vimentin in Laryngeal Squamous Cell Carcinomas
por: Mizdrak, Ivan, et al.
Publicado: (2023)

Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development
por: Veljačić Visković, Daniela, et al.
Publicado: (2023)

Expression Pattern of Sonic Hedgehog, Patched and Smoothened in Clear Cell Renal Carcinoma
por: Dunatov Huljev, Ana, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_aeh24mvidcccmt35remabf9n95