Search Results - "Rygiel, A."

Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons by Grünewald, Anne, Rygiel, Karolina A., Hepplewhite, Philippa D., Morris, Christopher M., Picard, Martin, Turnbull, Doug M.

“…Objective To determine the extent of respiratory chain abnormalities and investigate the contribution of mtDNA to the loss of respiratory chain complexes…”
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A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis by Rocha, Mariana C., Grady, John P., Grünewald, Anne, Vincent, Amy, Dobson, Philip F., Taylor, Robert W., Turnbull, Doug M., Rygiel, Karolina A.

“…Oxidative phosphorylation defects in human tissues are often challenging to quantify due to a mosaic pattern of deficiency. Biochemical assays are difficult to…”
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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 by Rygiel, Christine A, Goodrich, Jaclyn M, Solano-González, Maritsa, Mercado-García, Adriana, Hu, Howard, Téllez-Rojo, Martha M, Peterson, Karen E, Dolinoy, Dana C

“…Gestational lead (Pb) exposure can adversely affect offspring health through multiple mechanisms, including epigenomic alterations via DNA methylation (5mC)…”
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Characterization of covalent inhibitors that disrupt the interaction between the tandem SH2 domains of SYK and FCER1G phospho-ITAM by 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

“…RNA sequencing and genetic data support spleen tyrosine kinase (SYK) and high affinity immunoglobulin epsilon receptor subunit gamma (FCER1G) as putative…”
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Mitochondrial and inflammatory changes in sporadic inclusion body myositis by Rygiel, Karolina A., Miller, James, Grady, John P., Rocha, Mariana C., Taylor, Robert W., Turnbull, Doug M.

“…Aims Sporadic inclusion body myositis (sIBM) is the most common late onset muscle disease causing progressive weakness. In light of the lack of effective…”
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Epithelial-mesenchymal transition contributes to portal tract fibrogenesis during human chronic liver disease by Rygiel, Karolina A, Robertson, Helen, Marshall, Helen L, Pekalski, Marcin, Zhao, Liena, Booth, Trevor A, Jones, David E J, Burt, Alastair D, Kirby, John A

“…The relationship between bile duct damage and portal fibrosis in chronic liver diseases remains unclear. This study was designed to show whether human…”
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Tissue and sex-specific programming of DNA methylation by perinatal lead exposure: implications for environmental epigenetics studies by 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.

“…Early developmental environment can influence long-term health through reprogramming of the epigenome. Human environmental epigenetics studies rely on…”
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Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo by 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.

“…We generated induced pluripotent stem cells (iPSCs) from patient fibroblasts to yield cell lines containing varying degrees of heteroplasmy for a m.13514 A > G…”
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Tissue- and Sex-Specific DNA Methylation Changes in Mice Perinatally Exposed to Lead (Pb) by Wang, Kai, Liu, Siyu, Svoboda, Laurie K, Rygiel, Christine A, Neier, Kari, Jones, Tamara R, Colacino, Justin A, Dolinoy, Dana C, Sartor, Maureen A

“…Lead (Pb) is a well-known toxicant that interferes with the development of a child's nervous and metabolic systems and increases the risk of developing…”
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Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease by 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.

“…Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and…”
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Triplex real-time PCR–an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells by Rygiel, Karolina A., Grady, John P., Taylor, Robert W., Tuppen, Helen A. L., Turnbull, Doug M.

“…Mitochondrial DNA (mtDNA) mutations are commonly found in the skeletal muscle of patients with mitochondrial disease, inflammatory myopathies and sarcopenia…”
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Loss-of-function variant in the chymotrypsin like elastase 3B (CELA3B) predispose to non-alcoholic chronic pancreatitis by 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.

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Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue by Grünewald, Anne, Lax, Nichola Z., Rocha, Mariana C., Reeve, Amy K., Hepplewhite, Philippa D., A. Rygiel, Karolina, Taylor, Robert W., Turnbull, Doug M.

“…•We developed an assay to quantify respiratory chain deficiencies in single neurons.•Quadruple-label immunofluorescence was combined with quantitative image…”
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TRPV6-defective variants are associated with chronic pancreatitis in Polish pediatric patients by 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.

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The Y-chromosome F haplogroup contributes to the development of Barrett’s esophagus-associated esophageal adenocarcinoma in a white male population by 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

“…Summary Barrett’s esophagus (BE) is a metaplastic condition of the distal esophagus, resulting from longstanding gastroesophageal reflux disease (GERD). BE…”
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Developmental exposures to common environmental contaminants, DEHP and lead, alter adult brain and blood hydroxymethylation in mice by 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

“…The developing epigenome changes rapidly, potentially making it more sensitive to toxicant exposures. DNA modifications, including methylation and…”
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The ageing neuromuscular system and sarcopenia: a mitochondrial perspective by Rygiel, Karolina A., Picard, Martin, Turnbull, Doug M.

“…Skeletal muscles undergo structural and functional decline with ageing, culminating in sarcopenia. The underlying neuromuscular mechanisms have been the…”
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Recent advances in the structural biology of tyrosine kinases by Rygiel, Karolina A., Elkins, Jonathan M.

“…The past few years have seen exciting discoveries in the area of tyrosine kinase structural biology including the first high resolution models of full-length…”
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Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study by 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.

“…Mitochondrial dysfunction within the pulmonary vessels has been shown to contribute to the pathology of idiopathic pulmonary arterial hypertension (IPAH). We…”
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Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation by 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.

“…Epidermolysis bullosa simplex (EBS) is a hereditary genodermatosis characterised by trauma-induced intraepidermal blistering of the skin. EBS is mostly caused…”
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