Amina Kurtović-Kozarić
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View article: Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis Open
Background ABCC6 deficiency is caused by variants in the ABCC6 gene, leading to dysfunction of the ABCC6 protein. This can result in the development of the infantile phenotype, generalized arterial calcification of infancy type 2 (GACI2), …
View article: Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance Open
Accurate variant classification is critical for genetic diagnosis. Variants without clear classification, known as “variants of uncertain significance” (VUS), pose a significant diagnostic challenge. This study examines AlphaMissense perfo…
View article: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration Open
Background PLA2G6-associated neurodegeneration (PLAN) comprises three diseases with overlapping features: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism. INAD…
View article: Clinical trials in Bosnia and Herzegovina: Challenges and future perspectives
Clinical trials in Bosnia and Herzegovina: Challenges and future perspectives Open
Our analysis showed that Bosnia has the lowest number of clinical trials in the Balkans. Furthermore, the registration process is complex and longer than in developed countries. Since the healthcare system has been in a transition in the p…
View article: COVID-19 vaccine acceptance and rejection in an adult population in Bosnia and Herzegovina
COVID-19 vaccine acceptance and rejection in an adult population in Bosnia and Herzegovina Open
Background Bosnia and Herzegovina is among ten countries in the world with the highest mortality rate due to COVID-19. Lack of lockdown, open borders, high mortality rate, no vaccination plan, and strong domestic anti-vaccination movement …
View article: A Review of Molecular and Genetic Diagnostics of Myeloid Malignancies with Emphasis on Diagnostics in Bosnia and Herzegovina
A Review of Molecular and Genetic Diagnostics of Myeloid Malignancies with Emphasis on Diagnostics in Bosnia and Herzegovina Open
Here we describe the major genetic and genomic aberrations found in myeloid malignancies and how those markers are used in patients’ diagnosis, prognosis, and targeted treatment. In Bosnia and Herzegovina, cytogenetic and molecular diagnos…
View article: Multiplexed detection of SARS-CoV-2 and other respiratory infections in high throughput by SARSeq
Multiplexed detection of SARS-CoV-2 and other respiratory infections in high throughput by SARSeq Open
The COVID-19 pandemic has demonstrated the need for massively-parallel, cost-effective tests monitoring viral spread. Here we present SARSeq, saliva analysis by RNA sequencing , a method to detect SARS-CoV-2 and other respiratory viruses o…
View article: Genetic Study in a Cohort of Children With ROHHAD Syndrome
Genetic Study in a Cohort of Children With ROHHAD Syndrome Open
Introduction: Rapid-onset obesity, hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome beginning at 3-6 years of age with approximately 150 cases described. Additional features include eye abno…
View article: Lack of lockdown, open borders, and no vaccination in sight: is Bosnia and Herzegovina a control group?
Lack of lockdown, open borders, and no vaccination in sight: is Bosnia and Herzegovina a control group? Open
Bosnia and Herzegovina is among ten countries in the world with the highest mortality rate due to COVID-19 infection. Lack of lockdown, open borders, high mortality rate, no herd immunity, no vaccination plan, and strong domestic anti-vacc…
View article: SARSeq, a robust and highly multiplexed NGS assay for parallel detection of SARS-CoV2 and other respiratory infections
SARSeq, a robust and highly multiplexed NGS assay for parallel detection of SARS-CoV2 and other respiratory infections Open
During a pandemic, mitigation as well as protection of system-critical or vulnerable institutions requires massively parallel, yet cost-effective testing to monitor the spread of agents such as the current SARS-CoV2 virus. Here we present …
View article: Lifestyle risk factors and comorbidities of cancer patients in a country with limited resources
Lifestyle risk factors and comorbidities of cancer patients in a country with limited resources Open
<p><strong>Aim <br /></strong>To investigate quality of life and exposure to lifestyle risk factors of cancer patients in Bosnia and Herzegovina and a correlation of cancer type with lifestyle risk factors. <br /…
View article: Intercellular Mitochondrial Transfer in the Tumor Microenvironment
Intercellular Mitochondrial Transfer in the Tumor Microenvironment Open
Cell-to-cell communication is a fundamental process in every multicellular organism. In addition to membrane-bound and released factors, the sharing of cytosolic components represents a new, poorly explored signaling route. An extraordinar…
View article: Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers
Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers Open
Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes.…
View article: The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up
The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up Open
The identification of mutually exclusive somatic mutations shared among myeloproliferative neoplasm (MPN) subtypes has provided a powerful tool for studying disease evolution. Clinical features, gene mutations, and survival over 18 years w…
View article: Quantitative Analysis of CCL5 and ep300 in Periapical Inflammatory Lesions
Quantitative Analysis of CCL5 and ep300 in Periapical Inflammatory Lesions Open
Objectives. In silico bioinformatical analysis suggested that the expression of two genes, CCL5 (C-C Motif Chemokine Receptor 5) and ep300 (Histone acetyltransferase p300), could be used as potential new biomarkers in differentiation betwe…
View article: PB2234 MUTATIONAL SIGNATURES AFFECT THE PHENOTYPIC PRESENTATION OF DISEASE SUBTYPES IN MPN PATIENTS FROM BOSNIA AND HERZEGOVINA
PB2234 MUTATIONAL SIGNATURES AFFECT THE PHENOTYPIC PRESENTATION OF DISEASE SUBTYPES IN MPN PATIENTS FROM BOSNIA AND HERZEGOVINA Open
Background: Philadelphia‐negative myeloproliferative neoplasms (MPNs), including PV, ET, PMF, and MPN‐U are a group of clonal myeloid disorders characterized by myeloproliferation without dysplasia. WHO 2016 revision lists the presence of …
View article: Oral Pathology: Gene Expression in Odontogenic Cysts
Oral Pathology: Gene Expression in Odontogenic Cysts Open
Odontogenic cysts are a group of common pathological lesions of the jaw. Typically, they can be found randomly on X-rays as round benign lesions. However, some of them can behave aggressively with a tendency toward malignancy. Among odonto…
View article: Nonsyndromic Examples of Odontogenic Keratocysts: Presentation of Interesting Cases with a Literature Review
Nonsyndromic Examples of Odontogenic Keratocysts: Presentation of Interesting Cases with a Literature Review Open
The odontogenic keratocyst (OKC) may occur at any age. However, it mostly occurs during the second and third decades of life. Compared to other odontogenic cysts, this type occurs with a frequency of 5‐15%. It is more common in the mandibl…
View article: Evaluation of Diagnostic Efficiency of Alpha-Fetoprotein in Patients with Liver Cirrhosis and Hepatocellular Carcinoma: Single-Center Experience
Evaluation of Diagnostic Efficiency of Alpha-Fetoprotein in Patients with Liver Cirrhosis and Hepatocellular Carcinoma: Single-Center Experience Open
BACKGROUND: AFP serum levels are considered as diagnostic and specific for hepatocellular carcinoma (HCC) in patients with liver cirrhosis (LC). AIM: This study aimed to examine the diagnostic value of AFP in the distinguishing of patients…
View article: ASSOCIATION BETWEEN ALPHA-FETOPROTEIN AND OTHER SEROLOGICAL MARKERS IN PATIENTS WITH HEPATOCELLULAR CARCINOMA: ONE CENTER'S EXPERIENCE
ASSOCIATION BETWEEN ALPHA-FETOPROTEIN AND OTHER SEROLOGICAL MARKERS IN PATIENTS WITH HEPATOCELLULAR CARCINOMA: ONE CENTER'S EXPERIENCE Open
Purpose: In this study, we analyzed biochemical parameters in the serum of patients with a diagnosis of hepatocellular carcinoma (HCC) C and B viral aetiology.
\nMaterial/Methods: All patients (31 males and 20 females) with a diagnosis of …
View article: Evaluation of periodontal ligament cell viability in different storage media based on human <scp>PDL</scp> cell culture experiments—A systematic review
Evaluation of periodontal ligament cell viability in different storage media based on human <span>PDL</span> cell culture experiments—A systematic review Open
Background/Aims The best treatment for an avulsed tooth is immediate replantation. If this is not possible, a proper transport medium is required for the maintenance of viability of the periodontal ligament cells ( PDL ). The aim was to sy…