Results 11 to 20 of about 88,563 (282)

Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. [PDF]

, 2014
BackgroundPulmonary first pass filtration of particles marginally exceeding ∼7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in the preceding cardiac cycle to lodge ...
AD Kjeldsen, AD Kjeldsen, AE Guttmacher, AJ Easey, B Barzilai, B Nieswandt, Basel Chamali, BD Butler, BJ Folz, BM Silva, C Coupland, C Shovlin, CJ Gallione, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, Claire L. Shovlin, DW Johnson, E Buscarini, ER Chilvers, ER Weibel, F Roked, Gillian Angus, H Finnamore, Hannah C. Tighe, HL Devlin, IS Anand, J Feinstein, J Parra, J Remy, JA Dutton, JA Feinstein, JA Livesey, James E. Jackson, JE Van de Pette, JJ Mager, JL Hart, John A. Livesey, John Meek, K Clark, K Hara, K Nanthakumar, K Ono, K Zukotynski, KL Furie, Klaus Brusgaard, LC Weng, LS Valberg, M Bajc, M Billinger, M Blomley, M Moussouttas, M Nakayama, M Yeung, ME Faughnan, Michael A. Laffan, MK Whyte, MW van Gent, MW van Gent, OS AAssar, P Gazzaniga, P Gupta, P Shovlin CL, Wilmshurst, PC Hébert, RD Thompson, RF Gillum, Richard Manning, S Jackson, S Uchiyama, S Velthuis, SM Bang, T Krings, T Ueki, V Cottin, Vatshalan Santhirapala, WB Porter, Y Benjamini, Y Shinohara, Z Hao   +83 more
core   +7 more sources

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]

, 2003
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Harrison, R E, Flanagan, J A, Sankelo, M, Abdalla, S A, Rowell, J, Machado, R D, Elliott, C G, Robbins, I M, Olschewski, H, McLaughlin, V, Gruenig, E, Kermeen, F, Halme, M, Räisänen-Sokolowski, A, Laitinen, T, Morrell, N W, Trembath, R C   +16 more
core   +1 more source

c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis

Hepatology, EarlyView., 2022
In response to genotoxic injury, c‐Rel upregulates ATM‐Chk2‐p53 pathway DNA damage proteins to limiting hepatocarcinogenesis. Abstract Background and Aims Hepatocellular carcinoma (HCC) is a leading cause of cancer‐related death. The NF‐κB transcription factor family subunit c‐Rel is typically protumorigenic; however, it has recently been reported as a
Jack Leslie, Jill E. Hunter, Amy Collins, Amelia Rushton, Lauren G. Russell, Erik Ramon‐Gil, Maja Laszczewska, Misti McCain, Marco Y. W. Zaki, Amber Knox, Yixin Seow, Laura Sabater, Daniel Geh, Neil D. Perkins, Helen L. Reeves, Dina Tiniakos, Derek A. Mann, Fiona Oakley   +17 more
wiley   +1 more source

Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]

, 2019
Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore, Bolasco, Giulia, De Angelis, Luciana, De Gennaro, Vincenzo, Marazziti, Daniela, Naro, Fabio, Pellegrini, Manuela, Sala, Gina La, Tassinari, Valentina   +8 more
core   +1 more source

ATM in focus:a damage sensor and cancer target [PDF]

, 2012
The ability of a cell to conserve and maintain its native DNA sequence is fundamental for the survival and normal functioning of the whole organism and protection from cancer development.
Khalil, Hilal S., Tummala, Hemanth, Zhelev, Nikolai   +2 more
core   +4 more sources

Ataxia-Telangiectasia with Hyper-IgM Syndrome

Pediatric Neurology Briefs, 2009
A group of eight children with ataxia-tengiectasia (A-T) who presented with serum Ig levels suggestive of hyper-IgM syndrome (HIGM) are reported from the Department of Paediatrics, Reinier de Graaf Gasthuis, Delft, and other centers in the Netherlands ...
J Gordon Millichap
doaj   +1 more source

A case of cutaneous variant of intravascular large B-cell lymphoma in which dermoscopy revealed telangiectasias associated with erythematous induration

Dermatology Reports, 2023
Intravascular large B-cell lymphoma (IVLBCL) is a rare type of extranodal, diffuse, large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumen of small blood vessels, with no lymphadenopathy or masses.
Shigeru Koizumi, Yaei Togawa, Yuka Saeki, Ryo Shimizu, Michiyo Nakano   +4 more
doaj   +1 more source

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source

Acrogeria: A rare congenital aging syndrome

Indian Journal of Paediatric Dermatology, 2023
Acrogeria is a rare, nonhereditary genetic syndrome that presents with nonprogressive atrophy of the skin of the distal extremities, giving it an aged appearance. The patients have characteristic facies with pinched faces, an “owl-eyed” appearance, and a
Aparna Thirumalaiswamy, Vidya D Kharkar, Anmol Bhargava   +2 more
doaj   +1 more source