L
Lina Basel-Vanagaite
Researcher at Rabin Medical Center
Publications - 116
Citations - 6636
Lina Basel-Vanagaite is an academic researcher from Rabin Medical Center. The author has contributed to research in topics: Microcephaly & Gene. The author has an hindex of 39, co-authored 116 publications receiving 5870 citations. Previous affiliations of Lina Basel-Vanagaite include Children's Medical Center of Dallas & Tel Aviv University.
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Journal ArticleDOI
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Bernward Hinkes,Roger C. Wiggins,Rasheed Gbadegesin,Christopher N. Vlangos,Dominik Seelow,Gudrun Nürnberg,Puneet Garg,Rakesh Verma,Hassan Chaib,Bethan E. Hoskins,Shazia Ashraf,Christian Becker,Hans Christian Hennies,Meera Goyal,Bryan L. Wharram,Asher D. Schachter,Sudha Mudumana,Iain A. Drummond,Dontscho Kerjaschki,Rüdiger Waldherr,Alexander Dietrich,Fatih Ozaltin,Aysin Bakkaloglu,Roxana Cleper,Roxana Cleper,Lina Basel-Vanagaite,Lina Basel-Vanagaite,Martin Pohl,Martin Griebel,Alexey N. Tsygin,Alper Soylu,Dominik N. Müller,Caroline S. Sorli,Tom D. Bunney,Matilda Katan,Jinhong Liu,Massimo Attanasio,John F. O'Toole,Katrin Hasselbacher,Bettina E. Mucha,Edgar A. Otto,Rannar Airik,Andreas Kispert,Grant G. Kelley,Alan V. Smrcka,Thomas Gudermann,Lawrence B. Holzman,Peter Nürnberg,Friedhelm Hildebrandt +48 more
TL;DR: These findings, together with the zebrafish model of human nephrotic syndrome generated by plce1 knockdown, open new inroads into pathophysiology and treatment mechanisms of nephrotsic syndrome.
Journal ArticleDOI
G protein-coupled receptor-dependent development of human frontal cortex.
Xianhua Piao,Sean S. Hill,Adria Bodell,Bernard S. Chang,Lina Basel-Vanagaite,Rachel Straussberg,William B. Dobyns,Bassam Qasrawi,Robin M. Winter,A. Micheil Innes,Thomas Voit,M. Elizabeth Ross,Jacques L. Michaud,Jean Claude Déscarie,A. James Barkovich,Christopher A. Walsh +15 more
TL;DR: It is shown that mutations in GPR56, which encodes an orphan G protein–coupled receptor with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP).
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Uwe Kornak,E. Reynders,Aikaterini Dimopoulou,Jeroen van Reeuwijk,Bjoern Fischer,Anna Rajab,Birgit Budde,Peter Nürnberg,François Foulquier,William B. Dobyns,Dulce Quelhas,Laura Vilarinho,Elisa Leão-Teles,Marie T. Greally,Eva Seemanova,Martina Simandlova,Mustafa A. Salih,Arti Nanda,Lina Basel-Vanagaite,Hülya Kayserili,Memmune Yuksel-Apak,Marc Larregue,Jacqueline Vigneron,Sanda Giurgea,Dirk Lefeber,Zsolt Urban,Stephanie Gruenewald,Wim Annaert,Han G. Brunner,Hans van Bokhoven,Ron A. Wevers,Eva Morava,Gert Matthijs,Lionel Van Maldergem,Stefan Mundlos +34 more
TL;DR: Results indicate that the a2 subunit of the proton pump has an important role in Golgi function.
Journal ArticleDOI
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Birgit Budde,Yasmin Namavar,Peter G. Barth,Bwee Tien Poll-The,Gudrun Nürnberg,Christian Becker,Fred van Ruissen,Marian A. J. Weterman,Kees Fluiter,Erik T. Te Beek,Eleonora Aronica,Marjo S. van der Knaap,Wolfgang Höhne,Mohammad R. Toliat,Yanick J. Crow,Maja Steinlin,Thomas Voit,Filip Roelens,Wim Brussel,Knut Brockmann,Mårten Kyllerman,Eugen Boltshauser,Gerhard Hammersen,Michèl A.A.P. Willemsen,Lina Basel-Vanagaite,Ingeborg Krägeloh-Mann,Linda S. de Vries,László Sztriha,Francesco Muntoni,Colin D. Ferrie,Roberta Battini,Raoul C.M. Hennekam,Eugenio Grillo,Frits A. Beemer,Loes M E Stoets,Bernd Wollnik,Peter Nürnberg,Frank Baas +37 more
TL;DR: This work identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex that point to RNA processing as a new basic cellular impairment in neurological disorders.
Journal ArticleDOI
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
L Claes,Berten Ceulemans,Dominique Audenaert,Katrien Smets,Ann Löfgren,Jurgen Del-Favero,Sirpa Ala-Mello,Lina Basel-Vanagaite,Barbara Plecko,Salmo Raskin,Paul Thiry,Nicole I. Wolf,Christine Van Broeckhoven,Peter De Jonghe +13 more
TL;DR: Nine additional SMEI patients were examined and it was demonstrated that de novo mutations in SCN1A are a major cause of isolated SMEi.