E
Elin Falk-Sörqvist
Researcher at Science for Life Laboratory
Publications - 11
Citations - 542
Elin Falk-Sörqvist is an academic researcher from Science for Life Laboratory. The author has contributed to research in topics: Mutation & Cancer. The author has an hindex of 9, co-authored 11 publications receiving 418 citations. Previous affiliations of Elin Falk-Sörqvist include University College London & Uppsala University.
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Journal ArticleDOI
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
A. Sassi,Sandra Lazaroski,Gang Wu,Stuart M. Haslam,Manfred Fliegauf,Fethi Mellouli,Turkan Patiroglu,Ekrem Unal,Mehmet Akif Ozdemir,Zineb Jouhadi,Khadija Khadir,Leila Ben-Khemis,Meriem Ben-Ali,Imen Ben-Mustapha,Lamia Borchani,Dietmar Pfeifer,Thilo Jakob,Monia Khemiri,A. Charlotta Asplund,Manuela O. Gustafsson,Karin E. Lundin,Elin Falk-Sörqvist,Lotte Moens,Hatice Eke Gungor,Karin R. Engelhardt,Magdalena Dziadzio,Hans J. Stauss,Bernhard Fleckenstein,Rebecca Meier,Khairunnadiya Prayitno,Andrea Maul-Pavicic,Sandra Schaffer,Mirzokhid Rakhmanov,Philipp Henneke,Helene Kraus,Hermann Eibel,Uwe Kölsch,Sellama Nadifi,Mats Nilsson,Mohamed Bejaoui,Alejandro A. Schäffer,C. I. Edvard Smith,Anne Dell,Mohamed-Ridha Barbouche,Bodo Grimbacher,Bodo Grimbacher +45 more
TL;DR: In this paper, a linkage analysis of candidate genes in an 11.9-Mb linkage region on chromosome 6 shared by two multiplex families identified two homozygous mutations in PGM3 that segregated with disease status and followed recessive inheritance.
Journal ArticleDOI
Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11.
Linnea La Fleur,Elin Falk-Sörqvist,Patrik Smeds,Anders Berglund,Magnus Sundström,Johanna Sofia Margareta Mattsson,Eva Brandén,Hirsh Koyi,Johan Isaksson,Hans Brunnström,Mats Nilsson,Patrick Micke,Lotte Moens,Johan Botling +13 more
TL;DR: Mutational patterns and linked clinical parameters in a population-based NSCLC cohort were described and concurrent mutations in TP53 and STK11 were shown to confer poor survival in the KRAS-positive adenocarcinoma subgroup.
Journal ArticleDOI
Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia
Larry Mansouri,Lesley-Ann Sutton,Viktor Ljungström,Sina Bondza,Linda Arngården,Sujata Bhoi,Jimmy Larsson,Diego Cortese,Antonia Kalushkova,Karla Plevová,Erin Young,Rebeqa Gunnarsson,Elin Falk-Sörqvist,Peter Lönn,Alice F. Muggen,Xiao-Jie Yan,Brigitta Sander,Gunilla Enblad,Karin E. Smedby,Gunnar Juliusson,Chrysoula Belessi,Johan Rung,Nicholas Chiorazzi,Jonathan C. Strefford,Anton W. Langerak,Šárka Pospíšilová,Frederic Davi,Mats Hellström,Helena Jernberg-Wiklund,Paolo Ghia,Ola Söderberg,Kostas Stamatopoulos,Marcus Lars Vittorio Nilsson,Richard Rosenquist +33 more
TL;DR: In this paper, the authors performed targeted deep sequencing of 18 core complex genes within the NF-κB pathway in a discovery and validation CLL cohort totaling 315 cases and found that the most frequently mutated gene was NFKBIE (21/315 cases; 7%).
Journal ArticleDOI
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
Lotte Moens,Elin Falk-Sörqvist,A. Charlotta Asplund,Ewa Bernatowska,C. I. Edvard Smith,Mats Nilsson +5 more
TL;DR: A selector-based target enrichment assay was applied to detect disease-causing mutations in 179 known PID genes, indicating that the majority of PID cases could be resolved using a targeted sequencing approach.
Journal Article
Hypomorphic, Homozygous Mutations In Phosphoglucomutase-3 Impair Immunity And Increase Serum IgE Levels
A. Sassi,Sandra Lazaroski,Gang Wu,Stuart M. Haslam,Fethi Mellouli,Turkan Patiroglu,Zineb Jouhadi,Khadija Khadir,Dietmar Pfeifer,Thilo Jakob,Monia Khemiri,Imen Ben-Mustapha,Charlotta Asplund,Manuela O. Gustafsson,Karin E. Lundin,Elin Falk-Sörqvist,Lotte Moens,Ekrem Unal,Mehmet Akif Ozdemir,Hatice Eke Gungor,Karin R. Engelhardt,Magdalena Dziadzio,Hans J. Stauss,Bernhard Fleckenstein,Manfred Fliegauf,Rebecca Meier,Leila Ben-Khemis,Helene Kraus,Sellama Nadifi,Hermann Eibel,Mats Nilsson,Mohamed Bejaoui,Alejandro Schaeffer,Edvard Smith,Anne Dell,Mohamed-Ridha Barbouche,Bodo Grimbacher,Bodo Grimbacher +37 more
TL;DR: Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype.