Jens Schuster

Nyckelord

• functional genetics
• ipsc disease model
• stem cells

Publikationer

Senaste publikationer

• ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function (2022)
• 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 (2022)
• Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (2021)
• A combined approach for single-cell mRNA and intracellular protein expression analysis (2021)
• Syndromic RNA polymerase II insufficiency (2021)

Alla publikationer

Artiklar

• ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function (2022)
• 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 (2022)
• Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (2021)
• A combined approach for single-cell mRNA and intracellular protein expression analysis (2021)
• Syndromic RNA polymerase II insufficiency (2021)
• Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors (2021)
• Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele (2020)
• Incontinentia pigmenti (2020)
• Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9 (2020)
• DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors (2020)
• Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21) (2020)
• Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 (2019)
• Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations (2019)
• Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations (2019)
• Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment (2019)
• Mowat-Wilson syndrome (2019)
• Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions (2019)
• Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42 (2019)
• Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families (2019)
• An in vitro model of lissencephaly (2018)
• Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage (2017)
• Generation of human iPS cell line CTL07-II from human fibroblasts, under defined and xeno-free conditions (2016)
• Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture (2016)
• Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans (2015)
• Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines (2015)
• Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage (2015)
• Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6 (2014)
• Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy (2014)
• Differential expression of RPS19 5’UTR variants implicated in Diamond-Blackfan anemia (2012)
• 5'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency (2011)
• Mutations in frizzled 6 cause isolated autosomal-recessive nail dysplasia (2011)
• Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms (2011)
• A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis (2010)
• Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity (2010)
• Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia (2010)
• 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) (2010)
• Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia (2009)
• Posttranscriptional down-regulation of small ribosomal subunit proteinscorrelates with reduction of 18S rRNA in RPS19 deficiency (2009)
• Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19 (2009)
• WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome (2009)
• Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene (2009)
• Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure (2008)
• A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia (2008)
• A splice variant of the human CCA-adding enzyme with modified activity (2007)
• U1-like snRNAs lacking complementarity to canonical 5' splice sites (2006)
• Is yeast on its way to evolving tRNA editing? (2005)
• A universal method to produce in vitro transcripts with homogeneous 3' ends (2002)
• Epigenetic Insights into GABAergic development in Dravet Syndrome iPSC and Therapeutic Implications