Magdalena Mroczek
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View article: Single-nucleus RNA-seq reveals an invasive ESR1–MMP3 stem-like clone explaining clinicopathologic heterogeneity beyond EAU risk stratification in prostate cancer
Single-nucleus RNA-seq reveals an invasive ESR1–MMP3 stem-like clone explaining clinicopathologic heterogeneity beyond EAU risk stratification in prostate cancer Open
View article: Autosomal dominant myopathy caused by a novel ISCU variant
Autosomal dominant myopathy caused by a novel ISCU variant Open
Hereditary myopathy with lactic acidosis due to Iron-Sulfur Cluster Assembly Enzyme (ISCU) deficiency is a rare disorder of energy metabolism characterized clinically by myopathy with exercise intolerance, and biochemically by deficiencies…
View article: The Effects of Fecal Microbial Transplantation on the Symptoms in Autism Spectrum Disorder, Gut Microbiota and Metabolites: A Scoping Review
The Effects of Fecal Microbial Transplantation on the Symptoms in Autism Spectrum Disorder, Gut Microbiota and Metabolites: A Scoping Review Open
The bilateral interaction between the brain and the gut has recently been on the spectrum of researchers’ interests, including complex neural, endocrinological, and immunological signaling pathways. The first case reports and clinical stud…
View article: Lipoprotein Lipase Deficiency: heterozygotes match homozygotes in severity
Lipoprotein Lipase Deficiency: heterozygotes match homozygotes in severity Open
Introduction Biallelic pathogenic variants in the LPL gene are associated with familial lipoprotein lipase (LPL) deficiency. Homozygotes exhibit very severe hypertriglyceridemia (HTG) already in childhood with phenotypic features, such as …
View article: AI-assisted identification of disability patterns within identical EDSS grades
AI-assisted identification of disability patterns within identical EDSS grades Open
Background: The Neurostatus-Expanded Disability Status Scale (EDSS) is the most frequently used measure of disability in multiple sclerosis (MS) trials. However, EDSS scores ⩾4.5 are mainly based on ambulation and may fail to capture relev…
View article: Resistance in Lung Cancer Immunotherapy and How to Overcome It: Insights from the Genetics Perspective and Combination Therapies Approach
Resistance in Lung Cancer Immunotherapy and How to Overcome It: Insights from the Genetics Perspective and Combination Therapies Approach Open
Lung cancer with the highest number of new cases diagnosed in Europe and in Poland, remains an example of malignancy with a very poor prognosis despite the recent progress in medicine. Different treatment strategies are now available for c…
View article: HPV-KITE: sequence analysis software for rapid HPV genotype detection
HPV-KITE: sequence analysis software for rapid HPV genotype detection Open
Human papillomaviruses (HPVs) are among the most diverse viral families that infect humans. Fortunately, only a small number of closely related HPV types affect human health, most notably by causing nearly all cervical cancers, as well as …
View article: Neurostatus-SMARTCARE clinical trial: Enabling health care professionals to assess EDSS for decentralized trials in multiple sclerosis
Neurostatus-SMARTCARE clinical trial: Enabling health care professionals to assess EDSS for decentralized trials in multiple sclerosis Open
Background: Neurostatus-Expanded Disability Status Scale (EDSS) is the standard measure used to assess impairment and disability in multiple sclerosis (MS) trials but requires trained expert neurologists. Objectives: This study aims to eva…
View article: Plasma Cells as the Key Players of IVF Failure? Unlocking the Enigma of Infertility and In Vitro Fertilization Failure in the Light of Uterine Inflammation
Plasma Cells as the Key Players of IVF Failure? Unlocking the Enigma of Infertility and In Vitro Fertilization Failure in the Light of Uterine Inflammation Open
There is an interplay between plasma cells, endometritis, and infertility, particularly in the context of in vitro fertilization (IVF) failure. This narrative literature review explains the pathophysiology of endometritis, detailing the in…
View article: New hopes for the breast cancer treatment: perspectives on the oncolytic virus therapy
New hopes for the breast cancer treatment: perspectives on the oncolytic virus therapy Open
Oncolytic virus (OV) therapy has emerged as a promising frontier in cancer treatment, especially for solid tumours. While immunotherapies like immune checkpoint inhibitors and CAR-T cells have demonstrated impressive results, their limitat…
View article: Comment on: “Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype” by Ruiz de Sabando et al.
Comment on: “Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype” by Ruiz de Sabando et al. Open
View article: Pathologic <i>RFC1</i> repeat expansions do not contribute to the development of inflammatory neuropathies
Pathologic <i>RFC1</i> repeat expansions do not contribute to the development of inflammatory neuropathies Open
Biallelic expansions of the AAGGG repeat in the replication factor C subunit 1 (RFC1) have recently been described to be responsible for cerebellar ataxia, peripheral neuropathy and vestibular areflexia syndrome. This genetic alteration ha…
View article: Views of European Scientific Diasporas on UK-European cooperation after Brexit
Views of European Scientific Diasporas on UK-European cooperation after Brexit Open
Since the Brexit referendum in 2016, there has been much uncertainty around UK access to the EU's flagship research programmes and its opportunities to lead European projects and collaborations. Here, we present the results from a survey o…
View article: Effects of sleep deprivation on cortical excitability: A threshold-tracking TMS study and review of the literature
Effects of sleep deprivation on cortical excitability: A threshold-tracking TMS study and review of the literature Open
This study confirms some of the previous studies while contradicting others.
View article: Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum
Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum Open
View article: The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases—The Symptomatic Heterozygote Issue
The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases—The Symptomatic Heterozygote Issue Open
Heterozygous carriers of pathogenic/likely pathogenic variants in autosomal recessive disorders seem to be asymptomatic. However, in recent years, an increasing number of case reports have suggested that mild and unspecific symptoms can oc…
View article: The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study
The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study Open
Introduction Population-based cancer screening has raised many controversies in recent years, not only regarding the costs but also regarding the ethical nature and issues related to variant interpretation. Nowadays, genetic cancer screeni…
View article: The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022
The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022 Open
View article: WGS Data Collections: How Do Genomic Databases Transform Medicine?
WGS Data Collections: How Do Genomic Databases Transform Medicine? Open
As a scientific community we assumed that exome sequencing will elucidate the basis of most heritable diseases. However, it turned out it was not the case; therefore, attention has been increasingly focused on the non-coding sequences that…
View article: Genetics, Genomics and Emerging Molecular Therapies of Pancreatic Cancer
Genetics, Genomics and Emerging Molecular Therapies of Pancreatic Cancer Open
The number of cases of pancreatic cancers in 2019 in Poland was 3852 (approx. 2% of all cancers). The course of the disease is very fast, and the average survival time from the diagnosis is 6 months. Only <2% of patients live for 5 years f…
View article: Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options
Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options Open
PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion encompassing the PURA gene. PURA-NDD is clinically characterized by neurodevel…
View article: Better safe than sorry—Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19
Better safe than sorry—Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19 Open
Undoubtedly, genetic factors play an important role in susceptibility and resistance to COVID-19. In this study, we conducted the GWAS analysis. Out of 15,489,173 SNPs, we identified 18,191 significant SNPs for severe and 11,799 SNPs for r…
View article: Population WGS-based Spinal Muscular Atrophy Carrier Screening in a cohort of 1076 healthy Polish individuals
Population WGS-based Spinal Muscular Atrophy Carrier Screening in a cohort of 1076 healthy Polish individuals Open
Spinal Muscular Atrophy is a severe neuromuscular disorder with an autosomal recessive inheritance pattern. The disease-causing gene is SMN1 and its paralogue, SMN2, is a disease course modifier. Both genes SMN1 and SMN2 show over 99.9% se…
View article: Gene Variants Related to Cardiovascular and Pulmonary Diseases May Correlate with Severe Outcome of COVID-19
Gene Variants Related to Cardiovascular and Pulmonary Diseases May Correlate with Severe Outcome of COVID-19 Open
Background: Severe outcomes of COVID-19 account for up to 15% of all cases. The study aims to check if any gene variants related to cardiovascular (CVD) and pulmonary diseases (PD) are correlated with a severe outcome of COVID-19 in a Poli…
View article: <i>CAPN3</i> c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related
<i>CAPN3</i> c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related Open
The investigated intronic CAPN3 variant NM_000070.3:c.1746-20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on 14 patients carrying the…
View article: Beyond GWAS—Could Genetic Differentiation within the Allograft Rejection Pathway Shape Natural Immunity to COVID-19?
Beyond GWAS—Could Genetic Differentiation within the Allograft Rejection Pathway Shape Natural Immunity to COVID-19? Open
COVID-19 infections pose a serious global health concern so it is crucial to identify the biomarkers for the susceptibility to and resistance against this disease that could help in a rapid risk assessment and reliable decisions being made…
View article: The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies
The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies Open
Although Slavic populations account for over 4.5% of world inhabitants, no centralised, open-source reference database of genetic variation of any Slavic population exists to date. Such data are crucial for clinical genetics, biomedical re…
View article: <i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum
<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum Open
Background Biallelic pathogenic variants in FXR1 have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a mild…
View article: Cerebrospinal Fluid Proteome Alterations Associated with Neuropsychiatric Symptoms in Cognitive Decline and Alzheimer’s Disease
Cerebrospinal Fluid Proteome Alterations Associated with Neuropsychiatric Symptoms in Cognitive Decline and Alzheimer’s Disease Open
Although neuropsychiatric symptoms (NPS) are common and severely affect older people with cognitive decline, little is known about their underlying molecular mechanisms and relationships with Alzheimer’s disease (AD). The aim of this study…
View article: Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review
Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review Open
Patients suffering from Fabry disease (FD) have an increased risk of developing neuropsychiatric symptoms (NPS), mostly impairment in cognitive performance and depression. Single cases of psychosis have been reported, however, their associ…