about
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosisHuman serum-derived protein removes the need for coating in defined human pluripotent stem cell culture.Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemiaA splice variant of the human CCA-adding enzyme with modified activity.Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions.Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling.Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage.Is yeast on its way to evolving tRNA editing?U1-like snRNAs lacking complementarity to canonical 5' splice sites.A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis.Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6.Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsWhole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani familiesMowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variantGeneration of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutationsGeneration of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutationsPrimary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopmentTranscriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jens Schuster
@ast
Jens Schuster
@en
Jens Schuster
@es
Jens Schuster
@nl
Jens Schuster
@sl
type
label
Jens Schuster
@ast
Jens Schuster
@en
Jens Schuster
@es
Jens Schuster
@nl
Jens Schuster
@sl
prefLabel
Jens Schuster
@ast
Jens Schuster
@en
Jens Schuster
@es
Jens Schuster
@nl
Jens Schuster
@sl
P106
P31
P496
0000-0002-4383-9880