Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Pia Ostergaard"'
Autor:
Julian Pearce, Linda Hadcocks, Sahar Mansour, Malou van Zanten, Steve Jeffery, Kristiana Gordon, Pia Ostergaard, Peter Mortimer, Derek C. Macallan
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionThe lymphatic system has a pivotal role in immune homeostasis. To better understand this, we investigated the impact of Primary Lymphatic Anomalies (PLA) on lymphocyte numbers and phenotype.MethodsThe study comprised (i) a retrospective c
Externí odkaz:
https://doaj.org/article/ad81a0d0868a4a558629fd4d79d749ba
Autor:
René Hägerling, Malou Van Zanten, Rose Yinghan Behncke, Sascha Ulferts, Nils R. Hansmeier, Bruno Märkl, Christian Witzel, Bernard Ho, Vaughan Keeley, Katie Riches, Sahar Mansour, Kristiana Gordon, Pia Ostergaard, Peter S. Mortimer
Publikováno v:
JCI Insight, Vol 8, Iss 20 (2023)
Superficial erythematous cutaneous vascular malformations are assumed to be blood vascular in origin, but cutaneous lymphatic malformations can contain blood and appear red. Management may be different and so an accurate diagnosis is important. Cutan
Externí odkaz:
https://doaj.org/article/90a5b5d07dcd49ba99efb501fc892bb3
Autor:
Dionysios Grigoriadis, Ege Sackey, Katie Riches, Malou van Zanten, Glen Brice, Ruth England, Mike Mills, Sara E. Dobbins, Li Ling Lee, Steve Jeffery, Liang Dong, David B. Savage, Peter S. Mortimer, Vaughan Keeley, Alan Pittman, Kristiana Gordon, Pia Ostergaard
Publikováno v:
PLoS ONE, Vol 17, Iss 10 (2022)
Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of lipoedema, suggesting a genetic origin, but the contribu
Externí odkaz:
https://doaj.org/article/690ab941e0c2484cbd480d1834ebbb70
Autor:
Oliver Lyons, James Walker, Christopher Seet, Mohammed Ikram, Adam Kuchta, Andrew Arnold, Magda Hernández-Vásquez, Maike Frye, Gema Vizcay-Barrena, Roland A. Fleck, Ashish S. Patel, Soundrie Padayachee, Peter Mortimer, Steve Jeffery, Siren Berland, Sahar Mansour, Pia Ostergaard, Taija Makinen, Bijan Modarai, Prakash Saha, Alberto Smith
Publikováno v:
JCI Insight, Vol 6, Iss 18 (2021)
Venous valve (VV) failure causes chronic venous insufficiency, but the molecular regulation of valve development is poorly understood. A primary lymphatic anomaly, caused by mutations in the receptor tyrosine kinase EPHB4, was recently described, wit
Externí odkaz:
https://doaj.org/article/ec0695e085a24322bfff5ed5770002cf
Autor:
Naushin H Waseem, Sancy Low, Amna Z Shah, Deepa Avisetti, Pia Ostergaard, Michael Simpson, Katarzyna A Niemiec, Belen Martin-Martin, Hebah Aldehlawi, Saima Usman, Pak Sang Lee, Anthony P Khawaja, Jonathan B Ruddle, Ameet Shah, Ege Sackey, Alexander Day, Yuzhen Jiang, Geoff Swinfield, Ananth Viswanathan, Giovanna Alfano, Christina Chakarova, Heather J Cordell, David F Garway-Heath, Peng T Khaw, Shomi S Bhattacharya, Ahmad Waseem, Paul J Foster
Publikováno v:
PLoS Genetics, Vol 16, Iss 4, p e1008721 (2020)
Current estimates suggest 50% of glaucoma blindness worldwide is caused by primary angle-closure glaucoma (PACG) but the causative gene is not known. We used genetic linkage and whole genome sequencing to identify Spermatogenesis Associated Protein 1
Externí odkaz:
https://doaj.org/article/d5c95c4f9b2048b1a0b64b97787b4d40
Autor:
Maike Frye, Andrea Taddei, Cathrin Dierkes, Ines Martinez-Corral, Matthew Fielden, Henrik Ortsäter, Jan Kazenwadel, Dinis P. Calado, Pia Ostergaard, Marjo Salminen, Liqun He, Natasha L. Harvey, Friedemann Kiefer, Taija Mäkinen
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
Mechanical cues are known to influence endothelial cell behavior. Here Frye et al. show that lymphatic endothelial cell progenitors experience varying degrees of matrix stiffness during development, and that matrix stiffness regulates GATA2 expressio
Externí odkaz:
https://doaj.org/article/d7157b72d40e47f885661cb7f76b2542
Autor:
Elisavet Fotiou, Silvia Martin-Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Pia Ostergaard
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)
This Article contains an error in the last sentence of the ‘Variant analysis suggests they are pathogenic’ section of the Results, which incorrectly reads ‘No truncated PIEZO1 protein products were identified in western blot analysis in GLD1:II
Externí odkaz:
https://doaj.org/article/e07e02869c1341999b9a713136862533
Autor:
Noeline Nadarajah, Dörte Schulte, Vivienne McConnell, Silvia Martin-Almedina, Christina Karapouliou, Peter S. Mortimer, Steve Jeffery, Stefan Schulte-Merker, Kristiana Gordon, Sahar Mansour, Pia Ostergaard
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 8, p 2259 (2018)
Lymphedema is characterized by chronic swelling of any body part caused by malfunctioning or obstruction in the lymphatic system. Primary lymphedema is often considered genetic in origin. VEGFC, which is a gene encoding the ligand for the vascular en
Externí odkaz:
https://doaj.org/article/884cacf209b54d2299a0611aff6dc166
Autor:
Yann C. Klimentidis, Zhao Chen, Manuel L. Gonzalez-Garay, Dionysios Grigoriadis, Ege Sackey, Alan Pittman, Pia Ostergaard, Karen L. Herbst
Publikováno v:
European Journal of Human Genetics. 31:338-344
Autor:
Noeline Nadarajah, Mark D. Kilby, Maja Hempel, Stephanie E. Vallee, Silvia Martin-Almedina, Rhiannon Mellis, Dionysios Grigoriadis, Sarah Robart, Sahar Mansour, Mary Beth Dinulos, Ege Sackey, Giles Atton, Wolf-Henning Becker, Christina Karapouliou, Kazim Ogmen, Fanny Kortuem, Katherine S. Josephs, Gunnar Houge, Cathrine Ebbing, Pia Ostergaard, Kristiana Gordon, Steve Jeffery, Peter S. Mortimer, Jerome L. Gorski, Axel von der Wense, Alexandra Robinson, Cassandra Polun, Siren Berland, Jenny Lord, Hallvard Reigstad, Sherri J. Bale
Publikováno v:
Genetics in Medicine
PurposeSeveral clinical phenotypes including fetal hydrops, central conducting lymphatic anomaly or capillary malformations with arteriovenous malformations 2 (CM-AVM2) have been associated with EPHB4 (Ephrin type B receptor 4) variants, demanding ne