S
Seval Türkmen
Researcher at Charité
Publications - 44
Citations - 1937
Seval Türkmen is an academic researcher from Charité. The author has contributed to research in topics: Myeloid leukemia & Leukemia. The author has an hindex of 20, co-authored 41 publications receiving 1696 citations. Previous affiliations of Seval Türkmen include Humboldt University of Berlin & Max Planck Society.
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Journal ArticleDOI
Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
Katrina Tatton-Brown,Jenny Douglas,Kim Coleman,Geneviève Baujat,Trevor Cole,Soma Das,Denise Horn,H. E. Hughes,I. Karen Temple,Francesca Faravelli,Darrel Waggoner,Seval Türkmen,Valérie Cormier-Daire,Alexandre Irrthum,Nazneen Rahman +14 more
TL;DR: The data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions.
Journal ArticleDOI
Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts.
Olga Blau,Claudia D. Baldus,Wolf-Karsten Hofmann,Gundula Thiel,Florian Nolte,Thomas Burmeister,Seval Türkmen,Ouidad Benlasfer,Elke Schümann,Annette Sindram,Mara Molkentin,Stefan Mundlos,Ulrich Keilholz,Eckhard Thiel,Igor Wolfgang Blau +14 more
TL;DR: It is demonstrated herein that MSCs have distinct genetic abnormalities compared with leukemic blasts and the main characteristics of patients with M SCs carrying chromosomal aberrations are analyzed, indicating a particular mechanism of leukemogenesis.
Journal ArticleDOI
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait
Seval Türkmen,Gao Guo,Masoud Garshasbi,Katrin Hoffmann,Amjad J. Alshalah,Claudia Mischung,Andreas W. Kuss,Nicholas Humphrey,Stefan Mundlos,Peter N. Robinson +9 more
TL;DR: The findings underline the importance of ITP-mediated signaling in cerebellar function and provide suggestive evidence that congenital ataxia paired with cerebral dysfunction may, together with unknown contextual factors during development, predispose to quadrupedal gait in humans.
Journal ArticleDOI
Circulating proteasome levels are an independent prognostic factor for survival in multiple myeloma.
Christian Jakob,Karl Egerer,Peter Liebisch,Seval Türkmen,Ivana Zavrski,Ulrike Kuckelkorn,Ulrike Heider,Martin Kaiser,Claudia Fleissner,Jan Sterz,Lorenz Kleeberg,Eugen Feist,Gerd R Burmester,Peter M. Kloetzel,Orhan Sezer +14 more
TL;DR: It is demonstrated for the first time that increased serum proteasome concentrations correlate with advanced disease and are an independent prognostic factor in multiple myeloma.
Journal ArticleDOI
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Vishwanathan Hucthagowder,Eva Morava,Uwe Kornak,Dirk Lefeber,Björn Fischer,Aikaterini Dimopoulou,Annika Aldinger,Jiwon Choi,Elaine C. Davis,Dianne N. Abuelo,Maciej Adamowicz,Jumana Y. Al-Aama,Lina Basel-Vanagaite,Lina Basel-Vanagaite,Bridget A. Fernandez,Marie T. Greally,Gabriele Gillessen-Kaesbach,Hülya Kayserili,Emmanuelle Lemyre,Mustafa Tekin,Seval Türkmen,Beyhan Tüysüz,Berrin Yüksel-Konuk,Stefan Mundlos,Lionel Van Maldergem,Ron A. Wevers,Zsolt Urban +26 more
TL;DR: It is concluded that loss-of-function mutations in ATP6V0A2 lead to TE aggregation in the Golgi, impaired clearance of TE aggregates and increased apoptosis of elastogenic cells.