Jens Schuster

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Arce, Maximiliano; Erzar, Iza; Yang, Fan; Senthilkumar, Neeharika et al.

Ingår i Cell Reports, 2025

• DOI för KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation
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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.

Ingår i eLIFE, 2024

• DOI för 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.

Ingår i Stem Cell Research, 2024

• DOI för 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

Ingår i Stem Cell Research, 2022

• DOI för 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.

Ingår i Frontiers in Molecular Neuroscience, 2022

• DOI för ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
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KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Arce, Maximiliano; Erzar, Iza; Yang, Fan; Senthilkumar, Neeharika et al.

Ingår i Cell Reports, 2025

• DOI för KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation
• Ladda ner fulltext (pdf) av KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

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

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

Ingår i eLIFE, 2024

• DOI för Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications
• Ladda ner fulltext (pdf) av Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

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

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

Ingår i Stem Cell Research, 2024

• DOI för Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)
• Ladda ner fulltext (pdf) av Generation of a ZEB2 deficient human iPSC line (KICRi002A-4)

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

Ingår i Stem Cell Research, 2022

• DOI för 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
• Ladda ner fulltext (pdf) av 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

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.

Ingår i Frontiers in Molecular Neuroscience, 2022

• DOI för 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.

Ingår i Stem Cell Research, 2021

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

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

Ingår i American Journal of Human Genetics, s. 739-748, 2021

• DOI för Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
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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.

Ingår i Communications Biology, 2021

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

Ingår i Stem Cell Research, 2021

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

Ingår i Clinical Epigenetics, 2020

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

Ingår i Stem Cell Research, 2020

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

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.

Ingår i International Journal of Hematology, s. 894-899, 2020

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

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

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

Ingår i Stem Cell Research, 2020

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

Ingår i Stem Cell Research, 2020

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

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

Ingår i Journal of clinical neuroscience, s. 19-23, 2019

• DOI för 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.

Ingår i Human Mutation, s. 899-903, 2019

• DOI för 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.

Ingår i Frontiers in Genetics, 2019

• DOI för Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
• Ladda ner fulltext (pdf) av Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

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.

Ingår i Stem Cell Research, 2019

• DOI för 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.

Ingår i Stem Cell Research, 2019

• DOI för 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.

Ingår i Molecular Neurobiology, s. 7113-7127, 2019

• DOI för 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.

Ingår i Neurobiology of Disease, 2019

• DOI för 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.

Ingår i Stem Cell Research, 2019

• DOI för 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.

Ingår i Molecular Psychiatry, s. 1674-1684, 2018

• DOI för 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.

Ingår i PLOS Genetics, 2017

• DOI för 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.

Ingår i Nature Communications, 2016

• DOI för 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.

Ingår i Stem Cell Research, s. 474-478, 2016

• DOI för 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.

Ingår i Journal of Medical Genetics, s. 599-606, 2015

• DOI för 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.

Ingår i Stem Cells and Development, s. 2032-2040, 2015

• DOI för 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.

Ingår i Cellular Reprogramming, s. 327-337, 2015

• DOI för 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.

Ingår i BMC Medical Genetics, 2014

• DOI för 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.

Ingår i The FASEB Journal, s. 2293-2305, 2014

• DOI för 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

Ingår i PLOS ONE, 2011

• DOI för 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.

Ingår i American Journal of Human Genetics, s. 852-860, 2011

• DOI för 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.

Ingår i Neurogenetics, s. 65-72, 2011

• DOI för 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.

Ingår i Blood Cells, Molecules & Diseases, s. 23-28, 2010

• DOI för 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.

Ingår i Journal of Molecular Medicine, s. 39-46, 2010

• DOI för 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.

Ingår i Reproductive Biology and Endocrinology, s. 58, 2010

• DOI för 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.

Ingår i American Journal of Human Genetics, s. 596-603, 2010

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

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.

Ingår i Biochimica et Biophysica Acta, s. 1036-1042, 2009

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

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

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

Ingår i PLoS ONE, 2009

• DOI för Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19
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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.

Ingår i FEBS Letters, s. 2049-2053, 2009

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

Ingår i European Journal of Medical Genetics, s. 297-302, 2009

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

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

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

Ingår i European Journal of Human Genetics, s. 1600-1605, 2009

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

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.

Ingår i Journal of Human Genetics, s. 894-8, 2008

• DOI för 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.

Ingår i Human molecular genetics, s. 3776-83, 2008

• DOI för 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.

Ingår i Journal of Molecular Biology, s. 1258-1265, 2007

• DOI för 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.

Ingår i RNA, s. 1603-1611, 2006

• DOI för 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

Ingår i EMBO Reports, s. 367-372, 2005

• DOI för 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

Ingår i 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