Jens Schuster

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

Schuster, Jens; Lu, Xi; Dang, Yonglong; Klar, Joakim et al.

Part of eLIFE, 2024

• DOI for Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
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Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Schuster, Jens; Fatima, Ambrin; Papadopoulos, Natalia; de Guidi, Claudia et al.

Part of Stem Cell Research, 2024

• DOI for Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
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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

Schuster, Jens; Tripathi, Rekha; Klar, Joakim; Dahl, Niklas

Part of Stem Cell Research, 2022

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

Schuster, Jens; Klar, Joakim; Khalfallah, Ayda; Laan, Loora et al.

Part of Frontiers in Molecular Neuroscience, 2022

• DOI for ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
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Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

Schuster, Jens; de Guidi, Claudia; Fatima, Ambrin; Sobol, Maria et al.

Part of Stem Cell Research, 2021

• DOI for Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
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Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Schuster, Jens; Lu, Xi; Dang, Yonglong; Klar, Joakim et al.

Part of eLIFE, 2024

• DOI for Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
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Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

Schuster, Jens; Fatima, Ambrin; Papadopoulos, Natalia; de Guidi, Claudia et al.

Part of Stem Cell Research, 2024

• DOI for Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
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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

Schuster, Jens; Tripathi, Rekha; Klar, Joakim; Dahl, Niklas

Part of Stem Cell Research, 2022

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

Schuster, Jens; Klar, Joakim; Khalfallah, Ayda; Laan, Loora et al.

Part of Frontiers in Molecular Neuroscience, 2022

• DOI for ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
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Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A

Schuster, Jens; de Guidi, Claudia; Fatima, Ambrin; Sobol, Maria et al.

Part of Stem Cell Research, 2021

• DOI for Syndromic RNA polymerase II insufficiency: Generation of a human induced pluripotent stem cell line (UUIGPi002A-5) with a heterozygous disruption of POLR2A
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A combined approach for single-cell mRNA and intracellular protein expression analysis

Reimegård, Johan; Tarbier, Marcel; Danielsson, Marcus; Schuster, Jens et al.

Part of Communications Biology, 2021

• DOI for A combined approach for single-cell mRNA and intracellular protein expression analysis
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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko et al.

Part of American Journal of Human Genetics, p. 739-748, 2021

• DOI for Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
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Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors

Vasylovska, Svitlana; Schuster, Jens; Brboric, Anja; Carlsson, Per-Ola et al.

Part of Stem Cell Research, 2021

• DOI for Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors
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Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

Schuster, Jens; Hoeber, Jan; Sobol, Maria; Fatima, Ambrin et al.

Part of Stem Cell Research, 2020

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

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

Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan et al.

Part of Clinical Epigenetics, 2020

• DOI for DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
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Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

Akram, Talia; Fatima, Ambrin; Klar, Joakim; Hoeber, Jan et al.

Part of International Journal of Hematology, p. 894-899, 2020

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

Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9

Fatima, Ambrin; Schuster, Jens; Akram, Talia; Gonzalez, Carolina Maya et al.

Part of Stem Cell Research, 2020

• DOI for Incontinentia pigmenti: Generation of an IKBKG deficient human iPSC line (KICRi002-A-1) on a 46,XY background using CRISPR/Cas9
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Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9

Fatima, Ambrin; Schuster, Jens; Akram, Talia; Sobol, Maria et al.

Part of Stem Cell Research, 2020

• DOI for Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9
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Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

Zulfiqar, Shumaila; Tariq, Muhammad; Ali, Zafar; Fatima, Ambrin et al.

Part of Journal of clinical neuroscience, p. 19-23, 2019

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

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

Zakaria, Muhammad; Fatima, Ambrin; Klar, Joakim; Wikström, Johan et al.

Part of Human Mutation, p. 899-903, 2019

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

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

Kvarnung, Malin; Shahsavani, Mansoureh; Taylan, Fulya; Moslem, Mohsen et al.

Part of Frontiers in Genetics, 2019

• DOI for Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
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Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Schuster, Jens; Sobol, Maria; Fatima, Ambrin; Khalfallah, Ayda et al.

Part of Stem Cell Research, 2019

• DOI for Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
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Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

Schuster, Jens; Fatima, Ambrin; Sobol, Maria; Noraddin, Feria Hikmet et al.

Part of Stem Cell Research, 2019

• DOI for Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations
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Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Sobol, Maria; Klar, Joakim; Laan, Loora; Shahsavani, Mansoureh et al.

Part of Molecular Neurobiology, p. 7113-7127, 2019

• DOI for Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
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Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

Schuster, Jens; Laan, Loora; Klar, Joakim; Jin, Zhe et al.

Part of Neurobiology of Disease, 2019

• DOI for Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
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Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations

Schuster, Jens; Fatima, Ambrin; Schwarz, Franziska; Klar, Joakim et al.

Part of Stem Cell Research, 2019

• DOI for Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
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An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis

Shahsavani, M; Pronk, R J; Falk, R; Lam, M et al.

Part of Molecular Psychiatry, p. 1674-1684, 2018

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

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

Klar, Joakim; Piontek, Jörg; Milatz, Susanne; Tariq, Muhammad et al.

Part of PLOS Genetics, 2017

• DOI for Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage
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Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture

Pijuan-Galito, Sara; Tamm, Christoffer; Schuster, Jens; Sobol, Maria et al.

Part of Nature Communications, 2016

• DOI for Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture
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Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions

Kele, Malin; Day, Kelly; Ronnholm, Harriet; Schuster, Jens et al.

Part of Stem Cell Research, p. 474-478, 2016

• DOI for Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions
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Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

Klar, Joakim; Schuster, Jens; Khan, Tahir Naeem; Jameel, Muhammad et al.

Part of Journal of Medical Genetics, p. 599-606, 2015

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

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

Sobol, Maria; Raykova, Doroteya; Cavelier, Lucia; Khalfallah, Ayda et al.

Part of Stem Cells and Development, p. 2032-2040, 2015

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

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

Schuster, Jens; Halvardson, Jonatan; Lorenzo, Laureanne Pilar; Ameur, Adam et al.

Part of Cellular Reprogramming, p. 327-337, 2015

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

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

Schuster, Jens; Khan, Tahir Naeem; Tariq, Muhammad; Shaiq, Pakeeza Arzoo et al.

Part of BMC Medical Genetics, 2014

• DOI for Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
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Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

Kilander, Michaela B. C.; Petersen, Julian; Andressen, Kjetil Wessel; Ganji, Ranjani Sri et al.

Part of The FASEB Journal, p. 2293-2305, 2014

• DOI for Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6

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

Badhai, Jitendra; Schuster, Jens; Gidlöf, Olof; Dahl, Niklas

Part of PLOS ONE, 2011

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

Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

Fröjmark, Anne-Sophie; Schuster, Jens; Sobol, Maria; Entesarian, Miriam et al.

Part of American Journal of Human Genetics, p. 852-860, 2011

• DOI for Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia

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

Schuster, Jens; Sundblom, Jimmy; Thuresson, Ann-Charlotte; Hassin-Baer, Sharon et al.

Part of Neurogenetics, p. 65-72, 2011

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

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

Schuster, Jens; Fröjmark, Anne-Sophie; Nilsson, Per; Badhai, Jitendra et al.

Part of Blood Cells, Molecules & Diseases, p. 23-28, 2010

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

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

Fröjmark, Anne-Sophie; Badhai, Jitendra; Klar, Joakim; Thuveson, Maria et al.

Part of Journal of Molecular Medicine, p. 39-46, 2010

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

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)

Schuster, Jens; Karlsson, Teresia; Karlström, Per-Olof; Poromaa, Inger Sundström et al.

Part of Reproductive Biology and Endocrinology, p. 58, 2010

• DOI for 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)

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

Dahlqvist, Johanna; Klar, Joakim; Tiwari, Neha; Schuster, Jens et al.

Part of American Journal of Human Genetics, p. 596-603, 2010

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

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

Nawaz, Sadia; Klar, Joakim; Wajid, Muhammad; Aslam, Muhammad et al.

Part of European Journal of Human Genetics, p. 1600-1605, 2009

• DOI for WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

Posttranscriptional down-regulation of small ribosomal subunit proteinscorrelates with reduction of 18S rRNA in RPS19 deficiency

Badhai, Jitendra; Fröjmark, Anne-Sophie; Razzaghian, Hamid Reza; Davey, Edward et al.

Part of FEBS Letters, p. 2049-2053, 2009

• DOI for Posttranscriptional down-regulation of small ribosomal subunit proteinscorrelates with reduction of 18S rRNA in RPS19 deficiency
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Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19

Barrio, Alvaro Martinez; Eriksson, Oskar; Badhai, Jitendra; Fröjmark, Anne-Sophie et al.

Part of PLoS ONE, 2009

• DOI for Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19
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Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia

Badhai, Jitendra; Fröjmark, Anne-Sophie; Davey, Edward J.; Schuster, Jens et al.

Part of Biochimica et Biophysica Acta, p. 1036-1042, 2009

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

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

Stattin, Eva-Lena; Lindén, Bjarne; Lönnerholm, Torsten; Schuster, Jens et al.

Part of European Journal of Medical Genetics, p. 297-302, 2009

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

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

Rasool, Mahmood; Schuster, Jens; Aslam, Muhammad; Tariq, Muhammad et al.

Part of Journal of Human Genetics, p. 894-8, 2008

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

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

Mansouri, Mahmoud Reza; Schuster, Jens; Badhai, Jitendra; Stattin, Eva-Lena et al.

Part of Human molecular genetics, p. 3776-83, 2008

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

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

Lizano, Esther; Schuster, Jens; Mueller, Martin; Kelso, Janet et al.

Part of Journal of Molecular Biology, p. 1258-1265, 2007

• DOI for A splice variant of the human CCA-adding enzyme with modified activity

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

Kyriakopoulou, Christina; Larsson, Pontus; Liu, Lei; Schuster, Jens et al.

Part of RNA, p. 1603-1611, 2006

• DOI for U1-like snRNAs lacking complementarity to canonical 5' splice sites

Is yeast on its way to evolving tRNA editing?

Schuster, Jens; Betat, Heike; Mörl, Mario

Part of EMBO Reports, p. 367-372, 2005

• DOI for Is yeast on its way to evolving tRNA editing?

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

Schürer, Heike; Lang, Kathrin; Schuster, Jens; Mörl, Mario

Part of Nucleic Acids Research, 2002

Differential expression of RPS19 5’UTR variants implicated in Diamond-Blackfan anemia

Badhai, Jitendra; Fröjmark, Anne-Sophie; Gidlöf, Olof; Schuster, Jens et al.

2012