Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Philip J, Ostrowski"'
Autor:
Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in
Externí odkaz:
https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160
Autor:
Mahon L. Maguire, Debra J. McAndrew, Hannah A. Lake, Philip J. Ostrowski, Sevasti Zervou, Stefan Neubauer, Craig A. Lygate, Jurgen E. Schneider
Publikováno v:
Journal of Cardiovascular Magnetic Resonance, Vol 25, Iss 1, Pp 1-10 (2023)
Abstract Background Phosphorus cardiovascular magnetic resonance spectroscopy (31P-CMRS) has emerged as an important tool for the preclinical assessment of myocardial energetics in vivo. However, the high rate and diminutive size of the mouse heart i
Externí odkaz:
https://doaj.org/article/2f14a28b965446bc9091be7fea4b46e5
Autor:
Sevasti Zervou, Debra J. McAndrew, Hannah J. Whittington, Hannah A. Lake, Kyung Chan Park, Kuan Minn Cha, Philip J. Ostrowski, Thomas R. Eykyn, Jürgen E. Schneider, Stefan Neubauer, Craig A. Lygate
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
AimsAdenylate kinase 1 (AK1) catalyses the reaction 2ADP ↔ ATP + AMP, extracting extra energy under metabolic stress and promoting energetic homeostasis. We hypothesised that increased AK1 activity would have negligible effects at rest, but protect
Externí odkaz:
https://doaj.org/article/4987ce7164ec4b948b413bb6efbed548
Autor:
Katherine S Josephs, Angharad M Roberts, Pantazis Theotokis, Roddy Walsh, Philip J Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M McNally, Daniel P Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S Ware
BackgroundAs availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited card
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502d4033679b4a938e71105a442ecd3f
https://doi.org/10.1101/2023.04.03.23287612
https://doi.org/10.1101/2023.04.03.23287612
Autor:
Sevasti Zervou, Hannah J Whittington, Philip J Ostrowski, Fang Cao, Jack Tyler, Hannah A Lake, Stefan Neubauer, Craig A Lygate
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0182994 (2017)
The creatine kinase (CK) phosphagen system is fundamental to cellular energy homeostasis. Cardiomyocytes express three CK isoforms, namely the mitochondrial sarcomeric CKMT2 and the cytoplasmic CKM and CKB. We hypothesized that augmenting CK in vitro
Externí odkaz:
https://doaj.org/article/a4faef99ab7448fd83a6dd79b79440e0
Autor:
Nayana Lahiri, Dominic G. O’Donovan, Francesco Muntoni, Subash Somalanka, Rahul Phadke, Niranjanan Nirmalananthan, Rosaline Quinlivan, Philip J. Ostrowski, Chiara Pizzamiglio, Bhrigu Sood
Publikováno v:
Neuromuscular Disorders. 30:566-571
LPIN1 mutations are a known common cause of autosomal recessive, recurrent and life-threatening acute rhabdomyolysis of childhood-onset. The first episode of rhabdomyolysis usually happens in nearly all cases before the age of 5 and death is observed
Autor:
Sahar Mansour, Sarah F. Smithson, Gillian Rea, Anna Zachariou, Philip J. Ostrowski, Edward Blair, Alison Foster, Sofia Douzgou, Katrina Tatton-Brown, Trevor Cole, Chey Loveday, Elizabeth Thompson, Swati Naik, Diana Baralle, Katherine Lachlan, Michael Field, Claire Kyle, Yves Sznajer
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181:638-643
BRWD3 has been described as a cause of X-linked intellectual disability, but relatively little is known about the specific phenotype. We report the largest BRWD3 patient series to date, comprising 17 males with 12 distinct null variants and two parti
Autor:
Silvia Maitz, Elisa Rahikkala, Wayne Lam, Pedro A. Sanchez-Lara, Katherine Lachlan, Melissa Lees, Katherine L. Nathanson, Chey Loveday, Lionel Van Maldergem, Shane McKee, Dragana Josifova, Sally Ann Lynch, Katrina Tatton-Brown, Michael Parker, Ana Beleza-Meireles, Andrew G. L. Douglas, Sarina G. Kant, Philip J. Ostrowski, Tyler Mark Pierson, Yvonne Hilhorst-Hofstee, Sofia Douzgou, Kay Metcalfe, Marta Bertoli, Charlotte W. Ockeloen, Usha Kini, Diana Johnson, John Dean, Alice Spano, Trevor Cole, Alison Foster, Jennifer Hague, John M. Graham, Ian O. Ellis, Anna Zachariou, Mariëtte J.V. Hoffer
Publikováno v:
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 4, pp. 557-564
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 557-564
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. WILEY
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 557-564
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. WILEY
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Item does not contain fulltext CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. This study reports 27 unrelated patients with pathogeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3264e73bb704ac5d8c7608f78ec2c1b6
https://doi.org/10.1002/ajmg.c.31749
https://doi.org/10.1002/ajmg.c.31749
Autor:
Maria Laura Costantino, Stuart A. Cook, Marina Quinlan, A De Marvao, Jiashen Cai, Daniel Rueckert, Wenjia Bai, Tjw Dawes, Pawel Tokarczuk, Philip J. Ostrowski, Paul M. Matthews, Hideaki Suzuki, Marta Serrani, Declan P. O'Regan
Publikováno v:
Anaesthesia. 73:12-123
Autor:
Timothy J W, Dawes, Jiashen, Cai, Marina, Quinlan, Antonio, de Marvao, Philip J, Ostrowski, Paweł F, Tokarczuk, Geoffrey M J, Watson, John, Wharton, Luke S G E, Howard, J Simon R, Gibbs, Stuart A, Cook, Martin R, Wilkins, Declan P, O'Regan
Publikováno v:
Radiology. 288(2)
Purpose To measure right ventricular (RV) trabecular complexity by its fractal dimension (FD) in healthy subjects and patients with pulmonary hypertension (PH) and to assess its relationship with hemodynamic and functional parameters and future cardi