List of works - Jens Schuster

5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability

scientific article

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

scientific article published on 9 August 2008

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

scientific article

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

scientific article

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

scientific article published on 09 September 2008

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

scientific article

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

scientific article published on 19 September 2017

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

scientific article

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

scientific article

Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6.

scientific article published on 5 February 2014

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

scientific article

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

scientific article

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

scientific article published on 30 May 2019

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

scientific article published on 31 July 2019

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

scientific article published on 12 January 2011

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

scientific article

Is yeast on its way to evolving tRNA editing?

scientific article

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

scientific article

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

scientific article published on 27 July 2019

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

scientific article

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

scientific article published on 18 May 2009

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

scientific article published on 24 May 2019

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

scientific article published on 16 August 2009

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

scientific article

Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

scientific article

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

scientific article published on 8 September 2015

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

scientific article published on 13 April 2019

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

scientific article published on 21 August 2019

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

scientific article published on 7 July 2006

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

scientific article published on 04 July 2019

List of works by Jens Schuster

5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability

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

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

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

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

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

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

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

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

Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6.

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

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

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

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

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

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

Is yeast on its way to evolving tRNA editing?

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

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

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

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

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

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

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

Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

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

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

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

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

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