J. Schuster

发表

Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture

C. Tamm, C. Annerén, S. Pijuan-Galitó, 2016, Nature Communications.

Combined mRNA and protein single cell analysis in a dynamic cellular system using SPARC

M. Friedländer, Marcel Tarbier, Johan Reimegård, 2019, bioRxiv.

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

G. Schulte, S. Baig, N. Dahl, 2011, American journal of human genetics.

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity

N. Dahl, J. Schuster, J. Klar, 2009, Journal of Molecular Medicine.

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.

S. Bione, D. Toniolo, J. Peluso, 2008, Human molecular genetics.

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

S. Baig, N. Dahl, J. Schuster, 2020, International Journal of Hematology.

Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors.

P. Carlsson, N. Dahl, J. Schuster, 2020, Stem cell research.

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

M. Dichgans, R. Raininko, S. Hassin-Baer, 2011, neurogenetics.

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia.

A. Virtanen, N. Dahl, J. Schuster, 2010, Blood Cells, Molecules & Diseases.

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

M. Huss, A. Nordgren, B. Birnir, 2022, Frontiers in Molecular Neuroscience.

Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage.

L. Cavelier, N. Dahl, J. Schuster, 2015, Stem cells and development.

Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)

N. Dahl, J. Schuster, I. S. Poromaa, 2010, Reproductive biology and endocrinology : RB&E.

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

S. Baig, M. Rasool, Muhammad Tariq, 2008, Journal of Human Genetics.

Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9.

N. Dahl, J. Schuster, M. Sobol, 2020, Stem Cell Research.

Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A.

N. Dahl, J. Schuster, M. Sobol, 2021, Stem cell research.

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

M. Huss, B. Birnir, N. Dahl, 2019, Neurobiology of Disease.

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

M. Huss, J. Bergquist, G. Annéren, 2019, Molecular Neurobiology.

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

Neha Tiwari, N. Tiwari, N. Dahl, 2010, American journal of human genetics.

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

G. Annéren, N. Dahl, M. Shahsavani, 2020, Clinical Epigenetics.

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.

N. Dahl, J. Schuster, J. Badhai, 2009, Biochimica et biophysica acta.

Posttranscriptional down‐regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency

H. R. Razzaghian, N. Dahl, J. Schuster, 2009, FEBS letters.

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

S. Baig, K. Mäbert, N. Dahl, 2015, Journal of Medical Genetics.

U1-like snRNAs lacking complementarity to canonical 5' splice sites.

Pontus Larsson, A. Virtanen, F. Söderbom, 2006, RNA.

Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

G. Schulte, F. Levy, N. Dahl, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

S. Baig, N. Dahl, M. Wajid, 2009, European Journal of Human Genetics.

5′UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability

O. Gidlöf, N. Dahl, J. Schuster, 2011, PloS one.

A universal method to produce in vitro transcripts with homogeneous 3' ends.

M. Mörl, Kathrin Lang, J. Schuster, 2002, Nucleic acids research.

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

S. Baig, S. Milatz, J. Piontek, 2017, PLoS genetics.

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis

Sara B. Linker, F. Gage, S. Linker, 2018, Molecular Psychiatry.

Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

E. Bongcam-Rudloff, N. Dahl, A. Martinez Barrio, 2009, PloS one.

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

B. Birnir, N. Matsumoto, S. Baig, 2021, American journal of human genetics.

ResearchDown-regulation of progesterone receptor membrane component 1 ( PGRMC 1 ) in peripheral nucleated blood cells associated with premature ovarian failure ( POF ) and polycystic ovary syndrome ( PCOS )

N. Dahl, J. Schuster, P. Karlström, 2015 .

membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS)

N. Dahl, J. Schuster, P. Karlström, 2010 .

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.

A. Nordgren, B. Anderlid, N. Dahl, 2019, Stem cell research.

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

S. Baig, K. Mäbert, J. Schuster, 2014, BMC Medical Genetics.

Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21).

G. Annéren, N. Dahl, J. Schuster, 2020, Stem cell research.

Mitochondrial tRNA editing

M. Mörl, J. Schuster, 2004 .

Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations.

N. Dahl, J. Schuster, M. Sobol, 2019, Stem cell research.

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.

N. Dahl, J. Schuster, J. Klar, 2022, Stem cell research.

Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling.

L. Feuk, A. Ameur, G. Annéren, 2015, Cellular reprogramming.

A combined approach for single-cell mRNA and intracellular protein expression analysis

M. Friedländer, Johan Reimegård, N. Dahl, 2021, Communications Biology.

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

A. Nordgren, B. Birnir, D. Nilsson, 2019, Front. Genet..

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.

N. Dahl, J. Schuster, E. Stattin, 2009, European journal of medical genetics.

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

Sijie He, Jianguo Zhang, S. Baig, 2019, Journal of Clinical Neuroscience.

Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions.

N. Dahl, J. Schuster, A. Falk, 2016, Stem cell research.

Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.

N. Dahl, J. Schuster, J. Klar, 2019, Stem cell research.

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

S. Baig, N. Dahl, J. Wikström, 2019, Human mutation.

A combined approach for single-cell mRNA and intracellular protein expression analysis

M. Friedländer, Johan Reimegård, N. Dahl, 2021 .

A combined approach for single-cell mRNA and intracellular protein expression analysis.

M. Friedländer, Johan Reimegård, N. Dahl, 2021, Communications biology.

A splice variant of the human CCA-adding enzyme with modified activity.

J. Kelso, Esther Lizano, M. Mörl, 2007, Journal of molecular biology.

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia.

A. Virtanen, N. Dahl, J. Schuster, 2010, Blood cells, molecules & diseases.

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

J. Schuster, J. Klar, Yonglong Dang, 2023, bioRxiv.

Is yeast on its way to evolving tRNA editing?

M. Mörl, J. Schuster, H. Betat, 2005, EMBO reports.

Is yeast on its way to evolving tRNA editing?

M. Mörl, J. Schuster, H. Betat, 2005 .