[PDF][PDF] Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy

…, C Charbonnier-Le Clézio, J Giemza… - The American Journal of …, 2016 - cell.com
Via whole-exome sequencing, we identified rare autosomal-recessive variants in UBA5 in
five children from four unrelated families affected with a similar pattern of severe intellectual …

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

…, C Dina, JM Dugoujon, P Galan, J Giemza… - Science …, 2019 - science.org
European populations display low genetic differentiation as the result of long-term blending
of their ancient founding ancestries. However, it is unclear how the combination of ancient …

The genetic history of France

A Saint Pierre, J Giemza, I Alves… - European Journal of …, 2020 - nature.com
The study of the genetic structure of different countries within Europe has provided significant
insights into their demographic history and population structure. Although France occupies …

[HTML][HTML] Thromboembolic adverse drug reactions in Janus kinase (JAK) inhibitors: does the inhibitor specificity play a role?

PJ Kotyla, M Engelmann, J Giemza-Stokłosa… - International journal of …, 2021 - mdpi.com
Recent advances in immunology enabled the characterization of several signal transmitting
pathways responsible for proper cytokine and chemokine signaling. Among them, Janus …

Transcription of intragenic CpG islands influences spatiotemporal host gene pre-mRNA processing

…, N Barkas, J Setiadi, H Saadeh, J Giemza… - Nucleic Acids …, 2020 - academic.oup.com
Alternative splicing (AS) and alternative polyadenylation (APA) generate diverse transcripts
in mammalian genomes during development and differentiation. Epigenetic marks such as …

Hyperferritinaemia: an iron sword of autoimmunity

J Giemza-Stokłosa, MA Islam… - Current pharmaceutical …, 2019 - ingentaconnect.com
Background: Ferritin is a molecule that plays many roles being the storage for iron, signalling
molecule, and modulator of the immune response. Methods: Different electronic databases …

Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe

I Alves, J Giemza, M Blum, C Bernhardsson, S Chatel… - bioRxiv, 2022 - biorxiv.org
European genetic ancestry originates from three main ancestral populations - Western
hunter-gatherers, early European farmers and Yamnaya Eurasian herders - whose edges …

[HTML][HTML] Cytometric characterization of main immunocompetent cells in patients with systemic sclerosis: relationship with disease activity and type of …

…, A Owczarek, G Helbig, J Giemza-Stokłosa… - Journal of clinical …, 2019 - mdpi.com
Systemic sclerosis (SSc) is a connective tissue disease that is characterized by widespread
skin and internal organ fibrosis vasculopathy and immune response abnormalities, including …

INAA in the studies of icon paintings originating from South-Eastern Poland

E Pańczyk, J Giemza, L Waliś - Journal of radioanalytical and nuclear …, 2008 - Springer
The purpose of this work was to analyze lead white pigment from icons of 15 th–18 th
centuries, collected at the Orthodox Art Department at the Castle Museum in Łańcut, using …

An empirical chemical potential of the atomic core for non-transition element

J Giemza, WS Ptak - Chemical physics letters, 1984 - Elsevier
An empirical relation between the energy of an atomic ion and its charge is determined from
the experimental ionization potentials for non-transition elements. The definition of chemical …