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Jens Schuster
Jens Schuster
ass. prof. functional medical genetics, Uppsala University
Verified email at igp.uu.se - Homepage
Title
Cited by
Cited by
Year
A universal method to produce in vitro transcripts with homogeneous 3′ ends
H Schürer, K Lang, J Schuster, M Mörl
Nucleic acids research 30 (12), e56-e56, 2002
1772002
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
1612008
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
962010
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
872021
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome
S Nawaz, J Klar, M Wajid, M Aslam, M Tariq, J Schuster, SM Baig, N Dahl
European journal of human genetics 17 (12), 1600-1605, 2009
822009
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
772011
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
742014
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
682011
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
672010
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
622017
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
562009
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
502018
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
432019
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia
M Rasool, J Schuster, M Aslam, M Tariq, I Ahmad, A Ali, M Entesarian, ...
Journal of human genetics 53 (10), 894-898, 2008
432008
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
392019
U1-like snRNAs lacking complementarity to canonical 5′ splice sites
C Kyriakopoulou, P Larsson, L Liu, J Schuster, F Söderbom, LA Kirsebom, ...
Rna 12 (9), 1603-1611, 2006
372006
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
302016
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
292009
Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions
M Kele, K Day, H Rönnholm, J Schuster, N Dahl, A Falk
Stem Cell Research 17 (3), 474-478, 2016
252016
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
242015
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