A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis
Rocha, Mariana C, Grady, John P, Grünewald, Anne, Vincent, Amy, Dobson, Philip F, Taylor, Robert W, Turnbull, Doug M, Rygiel, Karolina A
Published in Scientific reports (15.10.2015)
Published in Scientific reports (15.10.2015)
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Prenatal Lead (Pb) Exposure and Peripheral Blood DNA Methylation (5mC) and Hydroxymethylation (5hmC) in Mexican Adolescents from the ELEMENT Birth Cohort
Rygiel, Christine A, Goodrich, Jaclyn M, Solano-González, Maritsa, Mercado-García, Adriana, Hu, Howard, Téllez-Rojo, Martha M, Peterson, Karen E, Dolinoy, Dana C
Published in Environmental health perspectives (01.06.2021)
Published in Environmental health perspectives (01.06.2021)
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Characterization of covalent inhibitors that disrupt the interaction between the tandem SH2 domains of SYK and FCER1G phospho-ITAM
Bashore, Frances M, Katis, Vittorio L, Du, Yuhong, Sikdar, Arunima, Wang, Dongxue, Bradshaw, William J, Rygiel, Karolina A, Leisner, Tina M, Chalk, Rod, Mishra, Swati, Williams, C Andrew, Gileadi, Opher, Brennan, Paul E, Wiley, Jesse C, Gockley, Jake, Cary, Gregory A, Carter, Gregory W, Young, Jessica E, Pearce, Kenneth H, Fu, Haian, Axtman, Alison D
Published in PloS one (15.02.2024)
Published in PloS one (15.02.2024)
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Epithelial-mesenchymal transition contributes to portal tract fibrogenesis during human chronic liver disease
RYGIEL, Karolina A, ROBERTSON, Helen, MARSHALL, Helen L, PEKALSKI, Marcin, LIENA ZHAO, BOOTH, Trevor A, JONES, David E. J, BURT, Alastair D, KIRBY, John A
Published in Laboratory investigation (01.02.2008)
Published in Laboratory investigation (01.02.2008)
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Journal Article
Tissue and sex-specific programming of DNA methylation by perinatal lead exposure: implications for environmental epigenetics studies
Svoboda, Laurie K., Neier, Kari, Wang, Kai, Cavalcante, Raymond G., Rygiel, Christine A., Tsai, Zing, Jones, Tamara R., Liu, Siyu, Goodrich, Jaclyn M., Lalancette, Claudia, Colacino, Justin A., Sartor, Maureen A., Dolinoy, Dana C.
Published in Epigenetics (03.10.2021)
Published in Epigenetics (03.10.2021)
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Journal Article
Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo
Russell, Oliver M, Fruh, Isabelle, Rai, Pavandeep K, Marcellin, David, Doll, Thierry, Reeve, Amy, Germain, Mitchel, Bastien, Julie, Rygiel, Karolina A, Cerino, Raffaele, Sailer, Andreas W, Lako, Majlinda, Taylor, Robert W, Mueller, Matthias, Lightowlers, Robert N, Turnbull, Doug M, Helliwell, Stephen B
Published in Scientific reports (29.01.2018)
Published in Scientific reports (29.01.2018)
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Journal Article
Tissue- and Sex-Specific DNA Methylation Changes in Mice Perinatally Exposed to Lead (Pb)
Wang, Kai, Liu, Siyu, Svoboda, Laurie K, Rygiel, Christine A, Neier, Kari, Jones, Tamara R, Colacino, Justin A, Dolinoy, Dana C, Sartor, Maureen A
Published in Frontiers in genetics (21.08.2020)
Published in Frontiers in genetics (21.08.2020)
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Journal Article
Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease
Sawicka, J., Kutkowska-Kaźmierczak, A., Woźniak, K., Tysarowski, A., Osipowicz, K., Poznański, J., Rygiel, A. M., Braun-Walicka, N., Niepokój, K., Bal, J., Kowalewski, C., Wertheim-Tysarowska, K.
Published in Journal of applied genetics (01.05.2020)
Published in Journal of applied genetics (01.05.2020)
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Journal Article
Loss-of-function variant in the chymotrypsin like elastase 3B (CELA3B) predispose to non-alcoholic chronic pancreatitis
Tóth, A., Demcsák, A., Zankl, F., Oracz, G., Unger, L.S., Bugert, P., Laumen, H., Párniczky, A., Hegyi, P., Rosendahl, J., Gambin, T., Płoski, R., Koziel, D., Gluszek, S., Lindgren, F., Löhr, J.M., Sahin-Tóth, M., Witt, H., Rygiel, A., Ewers, Maren, Hegyi, E.
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (15.11.2022)
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (15.11.2022)
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Journal Article
Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue
Grünewald, Anne, Lax, Nichola Z., Rocha, Mariana C., Reeve, Amy K., Hepplewhite, Philippa D., A. Rygiel, Karolina, Taylor, Robert W., Turnbull, Doug M.
Published in Journal of neuroscience methods (30.07.2014)
Published in Journal of neuroscience methods (30.07.2014)
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Journal Article
TRPV6-defective variants are associated with chronic pancreatitis in Polish pediatric patients
Oracz, G., Zarod, M., Gambin, T., Drozak, A., Kwiatkowski, S., Wertheim-Tysarowska, K., Kolodziejczyk, E., Sawicka, J., Jackiewicz, M., Kosinska, J., Koziel, D., Gluszek, S., Ploski, R., Bal, J., Drozak, J., Rygiel, A.
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.11.2020)
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.11.2020)
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Journal Article
The Y-chromosome F haplogroup contributes to the development of Barrett’s esophagus-associated esophageal adenocarcinoma in a white male population
Westra, W M, Rygiel, A M, Mostafavi, N, de Wit, G M J, Roes, A L, Moons, L M G, Peppelenbosch, M P, Ouburg, S, Morré, S A, Jacobs, M, Siersema, P D, Repping, S, Wang, K K, Krishnadath, K K
Published in Diseases of the esophagus (04.09.2020)
Published in Diseases of the esophagus (04.09.2020)
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Journal Article
Developmental exposures to common environmental contaminants, DEHP and lead, alter adult brain and blood hydroxymethylation in mice
Petroff, Rebekah L, Cavalcante, Raymond G, Colacino, Justin A, Goodrich, Jaclyn M, Jones, Tamara R, Lalancette, Claudia, Morgan, Rachel K, Neier, Kari, Perera, Bambarendage P U, Rygiel, Christine A, Svoboda, Laurie K, Wang, Kai, Sartor, Maureen A, Dolinoy, Dana C
Published in Frontiers in cell and developmental biology (13.06.2023)
Published in Frontiers in cell and developmental biology (13.06.2023)
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Journal Article
The ageing neuromuscular system and sarcopenia: a mitochondrial perspective
Rygiel, Karolina A., Picard, Martin, Turnbull, Doug M.
Published in The Journal of physiology (15.08.2016)
Published in The Journal of physiology (15.08.2016)
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Journal Article
Recent advances in the structural biology of tyrosine kinases
Rygiel, Karolina A., Elkins, Jonathan M.
Published in Current opinion in structural biology (01.10.2023)
Published in Current opinion in structural biology (01.10.2023)
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Journal Article
Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study
Sithamparanathan, Sasiharan, Rocha, Mariana C., Parikh, Jehill D., Rygiel, Karolina A., Falkous, Gavin, Grady, John P., Hollingsworth, Kieren G., Trenell, Michael I., Taylor, Robert W., Turnbull, Doug M., Gorman, Gráinne S., Corris, Paul A.
Published in Pulmonary circulation (01.04.2018)
Published in Pulmonary circulation (01.04.2018)
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Journal Article
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation
Wertheim-Tysarowska, K., Ołdak, M., Giza, A., Kutkowska-Kaźmierczak, A., Sota, J., Przybylska, D., Woźniak, K., Śniegórska, D., Niepokój, K., Sobczyńska-Tomaszewska, A., Rygiel, A. M., Płoski, R., Bal, J., Kowalewski, C.
Published in Journal of applied genetics (01.05.2016)
Published in Journal of applied genetics (01.05.2016)
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