Search Results - "Østergaard, Pia"

Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema by Martin-Almedina, Silvia, Mortimer, Peter S., Ostergaard, Pia

“…Primary lymphedema is a long-term (chronic) condition characterized by tissue lymph retention and swelling that can affect any part of the body, although it…”
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Matrix stiffness controls lymphatic vessel formation through regulation of a GATA2-dependent transcriptional program by Frye, Maike, Taddei, Andrea, Dierkes, Cathrin, Martinez-Corral, Ines, Fielden, Matthew, Ortsäter, Henrik, Kazenwadel, Jan, Calado, Dinis P., Ostergaard, Pia, Salminen, Marjo, He, Liqun, Harvey, Natasha L., Kiefer, Friedemann, Mäkinen, Taija

“…Tissue and vessel wall stiffening alters endothelial cell properties and contributes to vascular dysfunction. However, whether extracellular matrix (ECM)…”
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Genetic association analysis of 77,539 genomes reveals rare disease etiologies by Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest

“…The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenotyping of large patient cohorts provide an…”
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EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis by Martin-Almedina, Silvia, Martinez-Corral, Ines, Holdhus, Rita, Vicente, Andres, Fotiou, Elisavet, Lin, Shin, Petersen, Kjell, Simpson, Michael A, Hoischen, Alexander, Gilissen, Christian, Jeffery, Heather, Atton, Giles, Karapouliou, Christina, Brice, Glen, Gordon, Kristiana, Wiseman, John W, Wedin, Marianne, Rockson, Stanley G, Jeffery, Steve, Mortimer, Peter S, Snyder, Michael P, Berland, Siren, Mansour, Sahar, Makinen, Taija, Ostergaard, Pia

“…Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The…”
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Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort by Grigoriadis, Dionysios, Sackey, Ege, Riches, Katie, van Zanten, Malou, Brice, Glen, England, Ruth, Mills, Mike, Dobbins, Sara E, Lee, Li Ling, Jeffery, Steve, Dong, Liang, Savage, David B, Mortimer, Peter S, Keeley, Vaughan, Pittman, Alan, Gordon, Kristiana, Ostergaard, Pia

“…Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness…”
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Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort by 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

“…Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness…”
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Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis by Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyder, Michael P., Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia

“…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…”
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Human venous valve disease caused by mutations in FOXC2 and GJC2 by Lyons, Oliver, Saha, Prakash, Seet, Christopher, Kuchta, Adam, Arnold, Andrew, Grover, Steven, Rashbrook, Victoria, Sabine, Amélie, Vizcay-Barrena, Gema, Patel, Ash, Ludwinski, Francesca, Padayachee, Soundrie, Kume, Tsutomu, Kwak, Brenda R, Brice, Glen, Mansour, Sahar, Ostergaard, Pia, Mortimer, Peter, Jeffery, Steve, Brown, Nigel, Makinen, Taija, Petrova, Tatiana V, Modarai, Bijan, Smith, Alberto

“…Venous valves (VVs) prevent venous hypertension and ulceration. We report that FOXC2 and GJC2 mutations are associated with reduced VV number and length. In…”
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Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactions by Pearce, Julian, Hadcocks, Linda, Mansour, Sahar, van Zanten, Malou, Jeffery, Steve, Gordon, Kristiana, Ostergaard, Pia, Mortimer, Peter, Macallan, Derek C

“…The lymphatic system has a pivotal role in immune homeostasis. To better understand this, we investigated the impact of Primary Lymphatic Anomalies (PLA) on…”
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Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma by Waseem, Naushin H, Low, Sancy, Shah, Amna Z, Avisetti, Deepa, Ostergaard, Pia, Simpson, Michael, Niemiec, Katarzyna A, Martin-Martin, Belen, Aldehlawi, Hebah, Usman, Saima, Lee, Pak Sang, Khawaja, Anthony P, Ruddle, Jonathan B, Shah, Ameet, Sackey, Ege, Day, Alexander, Jiang, Yuzhen, Swinfield, Geoff, Viswanathan, Ananth, Alfano, Giovanna, Chakarova, Christina, Cordell, Heather J, Garway-Heath, David F, Khaw, Peng T, Bhattacharya, Shomi S, Waseem, Ahmad, Foster, Paul J

“…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…”
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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes by Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia

“…Purpose Several clinical phenotypes including fetal hydrops, central conducting lymphatic anomaly or capillary malformations with arteriovenous malformations 2…”
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Giant females and dwarf males: a comparative study of nuptial organs in female Chondracanthidae (Crustacea: Copepoda) by Østergaard, Pia, Boxshall, Geoff A.

“…Male chondracanthids attach to specific structures located near the genital apertures of the female and the term nuptial organ is proposed for these…”
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A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon by Nadarajah, Noeline, Schulte, Dörte, McConnell, Vivienne, Martin-Almedina, Silvia, Karapouliou, Christina, Mortimer, Peter S, Jeffery, Steve, Schulte-Merker, Stefan, Gordon, Kristiana, Mansour, Sahar, Ostergaard, Pia

“…Lymphedema is characterized by chronic swelling of any body part caused by malfunctioning or obstruction in the lymphatic system. Primary lymphedema is often…”
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Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes by Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia

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Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies by Hägerling, René, Van Zanten, Malou, Behncke, Rose Yinghan, Ulferts, Sascha, Hansmeier, Nils R, Märkl, Bruno, Witzel, Christian, Ho, Bernard, Keeley, Vaughan, Riches, Katie, Mansour, Sahar, Gordon, Kristiana, Ostergaard, Pia, Mortimer, Peter S

“…Superficial erythematous cutaneous vascular malformations are assumed to be blood vascular in origin, but cutaneous lymphatic malformations can contain blood…”
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Phylogeny within the Chondracanthidae (Poecilostomatoida, Copepoda) by Østergaard, Pia, Boxshall, Geoff A., Quicke, Donald L. J.

“…The existing systematics of the Chondracanthidae is based predominantly on female characters and divides them into two subfamilies: Chondracanthinae and…”
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Mutations in EPHB4 cause human venous valve aplasia by Lyons, Oliver, Walker, James, Seet, Christopher, Ikram, Mohammed, Kuchta, Adam, Arnold, Andrew, Hernández-Vásquez, Magda, Frye, Maike, Vizcay-Barrena, Gema, Fleck, Roland A, Patel, Ashish S, Padayachee, Soundrie, Mortimer, Peter, Jeffery, Steve, Berland, Siren, Mansour, Sahar, Ostergaard, Pia, Makinen, Taija, Modarai, Bijan, Saha, Prakash, Smith, Alberto

“…Venous valve (VV) failure causes chronic venous insufficiency, but the molecular regulation of valve development is poorly understood. A primary lymphatic…”
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Sem and Tem Study of the Integument of Ophioika Sp. (Crustacea, Copepoda) by Østergaard, Pia, Bresciani, José

“…Abstract The ultrastructure of the integument in a parasitic copepod Ophioika sp., which may be a new species, is described using SEM and TEM of specimens both…”
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Interactions between the Life Histories of a Parasitic Copepod, Parachordeumium amphiurae, and Its Brittle-Star Host, Amphipholis squamata by Østergaard, Pia, Emson, Roland, Ostergaard, Pia

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The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases by Monaghan, Richard M, Page, Donna J, Ostergaard, Pia, Keavney, Bernard D

“…Abstract Vascular endothelial growth factor receptors (VEGFRs) are part of the evolutionarily conserved VEGF signalling pathways that regulate the development…”
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