Targeted Phosphotyrosine Profiling of Glycoprotein VI Signaling Implicates Oligophrenin-1 in Platelet Filopodia Formation

Autor: Bleijerveld, O.B., van Holten, T.C., Preisinger, C., van der Smagt, J.J., Farndale, R.W., Kleefstra, T., Willemsen, M.H., Urbanus, R.T, de Groot, Ph.G., Heck, A.J.R., Roest, M., Scholten, A., Biomolecular Mass Spectrometry and Proteomics, Sub Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom.

Publikováno v: Arteriosclerosis, Thrombosis, and Vascular Biology, 33, 7, pp. 1538-1543
Arteriosclerosis, Thrombosis, and Vascular Biology, 33, 1538-1543
Arteriosclerosis, Thrombosis and Vascular Biology, 33(7), 1538. Lippincott Williams and Wilkins

Objective— Platelet adhesion to subendothelial collagen is dependent on the integrin α 2 β 1 and glycoprotein VI (GPVI) receptors. The major signaling routes in collagen-dependent platelet activation are outlined; however, crucial detailed knowle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad518fd21f14a00bc823bb737e920677
https://doi.org/10.1161/atvbaha.112.300916

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

Autor: Carlo Marcelis, Rolph Pfundt, Bart C.W. Kuipers, Bert B.A. de Vries, Nicole de Leeuw, Anneke T. Vulto-van Silfhout

Publikováno v: Clinical Dysmorphology, 22, 1, pp. 18-21
Clinical Dysmorphology, 22, 18-21

Item does not contain fulltext The clinical and molecular characterizations of two patients with a 1.4 Mb overlapping deletion in the 6p25.1p24.3 region are reported. In addition to the mild intellectual disability, they shared feeding problems in in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8c255dfe5b4731ba8b6b01e58a866e
https://doi.org/10.1097/mcd.0b013e32835b6e39

Clinical significance of de novo and inherited copy-number variation

Autor: R. Pfundt, Caleb Webber, A.P.M. de Brouwer, Han G. Brunner, Janneke H M Schuurs-Hoeijmakers, A.T. van Silfhout, L.B.A. de Vries, B W M van Bon, Jayne Y. Hehir-Kwa, I.J. Thoonen, Stephen Meader, N. de Leeuw, C.J. Hellebrekers

Publikováno v: Human Mutation; Vol 34
Human Mutation, 34, 12, pp. 1679-87
Human Mutation, 34, 1679-87

Contains fulltext : 125546.pdf (Publisher’s version ) (Open Access) Copy-number variations (CNVs) are a common cause of intellectual disability and/or multiple congenital anomalies (ID/MCA). However, the clinical interpretation of CNVs remains chal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33e1b54fd2736dd380f97bd6789f1a3

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome

Autor: Fernando Neves, Guy Froyen, S. Alves, Umbelina Ramos, Maria João Nabais Sá, Márcia Rodrigues, Fernando Teixeira e Costa, Nathalie Fieremans, Adelino Carvalho, Arjan P.M. de Brouwer, Maria José Brito, Joana Felgueiras, Fernanda Carvalho, Rita de Sousa, Francisco Sousa, José Ramón Vizcaíno, Filipa Carvalho, João Paulo Oliveira

Publikováno v: Journal of Medical Genetics, 50, 11, pp. 745-53
Journal of Medical Genetics, 50, 745-53

Background Alport syndrome (AS), a hereditary type IV collagen nephropathy, is a major cause of end-stage renal disease in young people. About 85% of the cases are X-linked (ATS), due to mutations in the COL4A5 gene. Rarely, families have a contiguou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6787d3c1f1221c4401d067104f30a7f2
https://doi.org/10.1136/jmedgenet-2013-101670

Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Autor: Erik-Jan Kamsteeg, Saskia D. van der Velde-Visser, Michael T. Geraghty, Christian Gilissen, Dirk J. Lefeber, Lihadh Al-Gazali, Joris A. Veltman, Han G. Brunner, Bart P.C. van de Warrenburg, Marinette van der Graaf, Amanda C. Smith, Martin Lammens, Willem M.R. van den Akker, Riad Bayoumi, Salma Ben-Salem, Arjan P.M. de Brouwer, Jeremy Schwartzentruber, Lisenka E.L.M. Vissers, Hans van Bokhoven, Bonnie Nijhof, Michèl A.A.P. Willemsen, Annette Schenck, Anna Castells Nobau, Corrie E. Erasmus, Adinda Diekstra, Bassam R. Ali, Anneke T. Vulto-van Silfhout, Sascha Vermeer, Ron A. Wevers, Irene M. Janssen, Susanne T. de Bot, Saeed Al-Yahyaee, Said Tariq, Peter Humphreys, Thachillath Pramathan, Bert B.A. de Vries, Irene Otte-Höller, Hubertus P. H. Kremer, Ilse I.G.M. van de Vondervoort, Janneke H M Schuurs-Hoeijmakers

Publikováno v: American Journal of Human Genetics, 91, 6, pp. 1073-81
American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
American Journal of Human Genetics, 91, 1073-81

Contains fulltext : 108770.pdf (Publisher’s version ) (Closed access) We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mamma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fad
https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1