Articles with public access mandates - Jens SchusterLearn more
Not available anywhere: 1
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families
S Zulfiqar, M Tariq, Z Ali, A Fatima, J Klar, U Abdullah, A Ali, S Ramzan, ...
Journal of Clinical Neuroscience 67, 19-23, 2019
Mandates: Swedish Research Council
Available somewhere: 40
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure
MR Mansouri, J Schuster, J Badhai, EL Stattin, R Lösel, M Wehling, ...
Human molecular genetics 17 (23), 3776-3783, 2008
Mandates: US National Institutes of Health
A combined approach for single-cell mRNA and intracellular protein expression analysis
J Reimegård, M Tarbier, M Danielsson, J Schuster, S Baskaran, ...
Communications biology 4 (1), 624, 2021
Mandates: Knut and Alice Wallenberg Foundation, Swedish Research Council, European …
A single-nucleotide deletion in the POMP 5′ UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis
J Dahlqvist, J Klar, N Tiwari, J Schuster, H Törmä, J Badhai, R Pujol, ...
The American Journal of Human Genetics 86 (4), 596-603, 2010
Mandates: Swedish Research Council
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia
AS Fröjmark, J Schuster, M Sobol, M Entesarian, MBC Kilander, ...
The American Journal of Human Genetics 88 (6), 852-860, 2011
Mandates: Swedish Research Council
Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6
MBC Kilander, J Petersen, KW Andressen, RS Ganji, FO Levy, J Schuster, ...
The FASEB Journal 28 (5), 2293-2305, 2014
Mandates: Swedish Research Council
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
J Schuster, J Sundblom, AC Thuresson, S Hassin-Baer, T Klopstock, ...
Neurogenetics 12, 65-72, 2011
Mandates: Swedish Research Council
Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary …
J Schuster, T Karlsson, PO Karlström, IS Poromaa, N Dahl
Reproductive Biology and Endocrinology 8, 1-6, 2010
Mandates: Swedish Research Council
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
J Klar, J Piontek, S Milatz, M Tariq, M Jameel, T Breiderhoff, J Schuster, ...
PLoS Genetics 13 (7), e1006897, 2017
Mandates: German Research Foundation, Swedish Research Council
Transcriptome and proteome profiling of neural induced pluripotent stem cells from individuals with Down syndrome disclose dynamic dysregulations of key pathways and cellular …
M Sobol, J Klar, L Laan, M Shahsavani, J Schuster, G Annerén, A Konzer, ...
Molecular neurobiology 56, 7113-7127, 2019
Mandates: Knut and Alice Wallenberg Foundation, Swedish Research Council
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond–Blackfan anemia
J Badhai, AS Fröjmark, EJ Davey, J Schuster, N Dahl
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792 (10 …, 2009
Mandates: US National Institutes of Health
An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis
M Shahsavani, RJ Pronk, R Falk, M Lam, M Moslem, SB Linker, J Salma, ...
Molecular psychiatry 23 (7), 1674-1684, 2018
Mandates: US National Institutes of Health, Swedish Research Council
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
J Schuster, L Laan, J Klar, Z Jin, M Huss, S Korol, FH Noraddin, M Sobol, ...
Neurobiology of Disease 132, 104583, 2019
Mandates: Knut and Alice Wallenberg Foundation, Swedish Research Council
Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture
S Pijuan-Galitó, C Tamm, J Schuster, M Sobol, L Forsberg, CLR Merry, ...
Nature communications 7 (1), 12170, 2016
Mandates: Swedish Research Council, UK Biotechnology and Biological Sciences Research …
Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency
J Badhai, AS Fröjmark, HR Razzaghian, E Davey, J Schuster, N Dahl
FEBS letters 583 (12), 2049-2053, 2009
Mandates: US National Institutes of Health
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
L Laan, J Klar, M Sobol, J Hoeber, M Shahsavani, M Kele, A Fatima, ...
Clinical Epigenetics 12, 1-14, 2020
Mandates: Knut and Alice Wallenberg Foundation, Swedish Research Council
Transcriptome profiling reveals degree of variability in induced pluripotent stem cell lines: Impact for human disease modeling
J Schuster, J Halvardson, L Pilar Lorenzo, A Ameur, M Sobol, D Raykova, ...
Cellular Reprogramming (Formerly" Cloning and Stem Cells") 17 (5), 327-337, 2015
Mandates: Swedish Research Council, European Commission
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
J Schuster, TN Khan, M Tariq, PA Shaiq, K Mäbert, SM Baig, J Klar
BMC medical genetics 15, 1-6, 2014
Mandates: Swedish Research Council
Methods of reprogramming to induced pluripotent stem cell associated with chromosomal integrity and delineation of a chromosome 5q candidate region for growth advantage
M Sobol, D Raykova, L Cavelier, A Khalfallah, J Schuster, N Dahl
Stem Cells and Development 24 (17), 2032-2040, 2015
Mandates: Swedish Research Council
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
A Fatima, J Hoeber, J Schuster, E Koshimizu, C Maya-Gonzalez, B Keren, ...
The American Journal of Human Genetics 108 (4), 739-748, 2021
Mandates: Swedish Research Council
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