Výsledky vyhledávání - "Krystian Jazdzewski"

Akademický článek

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Autor: Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

Abstract Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes. In this study, we

Externí odkaz: https://doaj.org/article/affdf9a585db42bda2bb63ae2877b1ff

Zobrazit plný text záznamu

Akademický článek

Regulatory mechanisms in arterial hypertension: role of microRNA in pathophysiology and therapy

Autor: Dominika Klimczak, Krystian Jazdzewski, Marek Kuch

Publikováno v: Blood Pressure, Vol 26, Iss 1, Pp 2-8 (2017)

Multiple factors underlie the pathophysiology of hypertension, involving endothelial dysregulation, vascular smooth muscle dysfunction, increased oxidative stress, sympathetic nervous system activation and altered renin -angiotensin -aldosterone regu

Externí odkaz: https://doaj.org/article/7caa3fa8fa2f40b092ea74f267e98541

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.

Publikováno v: PLoS ONE, Vol 8, Iss 5, p e61920 (2013)

Thyroid cancer shows high heritability but causative genes remain largely unknown. According to a common hypothesis the genetic predisposition to thyroid cancer is highly heterogeneous; being in part due to many different rare alleles. Here we used l

Externí odkaz: https://doaj.org/article/651e24fe49534fd19638923f21c5f333

Zobrazit plný text záznamu

Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)—A Series of Cases from a Single Family

Autor: Monika Kolanowska, Krystian Jazdzewski, Marta Kotlarek-Łysakowska, Magdalena Durlik, Anna Kubiak-Dydo, Katarzyna Salata, Agnieszka Furmańczyk-Zawiska, Pawel Gaj, Michał Świerniak, Anna Wojcicka, Ewelina Użarowska-Gąska, Beata Leszczyńska, Maria Daniel

Publikováno v: Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 304, p 304 (2021)

Atypical hemolytic uremic syndrome (aHUS) is a rare disease triggered by dysregulation of the alternative complement pathway, consisting of a characteristic triad of nonimmune hemolytic anemia, thrombocytopenia, and renal failure. The risk of aHUS on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::108176df1f5f1d93c5af49c9f644bb88
http://europepmc.org/articles/PMC8071215

Zobrazit plný text záznamu

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Autor: Ewelina Użarowska-Gąska, Izabela Górzyńska, Mateusz Koziej, Anna Kubiak-Dydo, Katarzyna Serwan, Pawel Gaj, Marta Kotlarek-Łysakowska, Krystian Jazdzewski, Anna Wojcicka, Julia Staręga-Rosłan, Michał Świerniak, Monika Kolanowska, Adam Kot, Marcin Bednarek, Beata Kieć-Wilk, Artur Dobosz, Marek Trybus

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine

Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes. In this study, we have ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8aa78e84b5e1e8509d21dadff3a2fcf
https://doaj.org/article/affdf9a585db42bda2bb63ae2877b1ff

Zobrazit plný text záznamu

Bezafibrate Upregulates Mitochondrial Biogenesis and Influence Neural Differentiation of Human-Induced Pluripotent Stem Cells

Autor: Monika Kolanowska, Piotr P. Stepien, Jacek Lenart, Justyna Augustyniak, Krystian Jazdzewski, Pawel Gaj, Leonora Buzanska

Publikováno v: Molecular Neurobiology

Bezafibrate (BZ) regulates mitochondrial biogenesis by activation of PPAR’s receptors and enhancing the level of PGC-1α coactivator. In this report, we investigated the effect of BZ on the expression of genes (1) that are linked to different pathw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4b421acbb49c77ec9b2f96fc1175b17
http://europepmc.org/articles/PMC6505510

Zobrazit plný text záznamu

Next-generation sequencing reveals microRNA markers of adrenocortical tumors malignancy

Autor: Łukasz Koperski, Barbara Górnicka, Krystian Jazdzewski, Anna Wojcicka, Marta Kotlarek, Anna Kubiak, Michał Świerniak, Monika Kolanowska

Publikováno v: Oncotarget

// Łukasz Koperski 1 , Marta Kotlarek 2 , Michal Świerniak 2, 3 , Monika Kolanowska 2, 3 , Anna Kubiak 2, 3 , Barbara Gornicka 1 , Krystian Jazdzewski 2, 3 and Anna Wojcicka 2, 3 1 Department of Pathology, Medical University of Warsaw, Warsaw, Pola

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f592dc07eeec11515e31de2e05fe39
https://doi.org/10.18632/oncotarget.16788

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání