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Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Role of MRI in the management of patients with nephroblastoma.
- Published in:
- 2008
- By:
- Publication type:
- journal article
5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 12, p. 1593, doi. 10.15252/emmm.201404461
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- Publication type:
- Article
mRNA 3′end processing: A tale of the tail reaches the clinic.
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- EMBO Molecular Medicine, 2014, v. 6, n. 1, p. 16, doi. 10.1002/emmm.201303300
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- Publication type:
- Article
Splicing and 3' end formation in the definition of nonsense-mediated decay-competent human ß-globin mRNPs.
- Published in:
- EMBO Journal, 2001, v. 20, n. 3, p. 532, doi. 10.1093/emboj/20.3.532
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- Publication type:
- Article
Binary specification of nonsense codons by splicing and cytoplasmic translation.
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- EMBO Journal, 1998, v. 17, n. 12, p. 3484, doi. 10.1093/emboj/17.12.3484
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- Publication type:
- Article
(Phospho)proteomic Profiling of Microsatellite Unstable CRC Cells Reveals Alterations in Nuclear Signaling and Cholesterol Metabolism Caused by Frameshift Mutation of NMD Regulator UPF3A.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 15, p. 5234, doi. 10.3390/ijms21155234
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- Publication type:
- Article
MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB.
- Published in:
- 2018
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- Publication type:
- journal article
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.
- Published in:
- Journal of Clinical Investigation, 2007, v. 117, n. 3, p. 683, doi. 10.1172/JCI28523
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- Publication type:
- Article
Internal ribosome entry sequence-mediated translation initiation triggers nonsense-mediated decay.
- Published in:
- EMBO Reports, 2006, v. 7, n. 7, p. 722, doi. 10.1038/sj.embor.7400721
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- Publication type:
- Article
Intraventricular hemorrhage in a full-term neonate associated with sinus venous thrombosis and homozygosity for the plasminogen activator inhibitor-1 4G/4G polymorphism.
- Published in:
- Pediatrics International, 2003, v. 45, n. 1, p. 93, doi. 10.1046/j.1442-200X.2003.01658.x
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- Publication type:
- Article
A network of SMG-8, SMG-9 and SMG-1 C-terminal insertion domain regulates UPF1 substrate recruitment and phosphorylation.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 15, p. 7600, doi. 10.1093/nar/gkv668
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- Publication type:
- Article
MYCN and HDAC2 cooperate to repress miR-183 signaling in neuroblastoma.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 12, p. 6018, doi. 10.1093/nar/gkt346
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- Publication type:
- Article
The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 13, p. 4542, doi. 10.1093/nar/gkm461
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- Publication type:
- Article
Array-based profiling of reference-independent methylation status (aPRIMES) identifies frequent promoter methylation and consecutive downregulation of ZIC2 in pediatric medulloblastoma.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 7, p. e51, doi. 10.1093/nar/gkm094
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- Publication type:
- Article
Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome.
- Published in:
- Rare Tumors, 2010, v. 2, n. 2, p. 99, doi. 10.4081/rt.2010.e36
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- Publication type:
- Article
Elevated expression of c-kit in small venous malformations of blue rubber belb nevus syndrome.
- Published in:
- Rare Tumors, 2010, v. 2, n. 1, p. 99, doi. 10.4081/rt.2010.e36
- By:
- Publication type:
- Article
Functional analysis of structural variants in single cells using Strand-seq.
- Published in:
- Nature Biotechnology, 2023, v. 41, n. 6, p. 832, doi. 10.1038/s41587-022-01551-4
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- Publication type:
- Article
Single-cell analysis of structural variations and complex rearrangements with tri-channel processing.
- Published in:
- Nature Biotechnology, 2020, v. 38, n. 3, p. 343, doi. 10.1038/s41587-019-0366-x
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- Publication type:
- Article
Expression of CD56 defines a distinct subgroup in childhood T‐ALL with inferior outcome. Results of the ALL‐BFM 2000 trial.
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- British Journal of Haematology, 2018, v. 183, n. 1, p. 96, doi. 10.1111/bjh.15503
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- Publication type:
- Article
Therapy with low-dose azacitidine for MDS in children and young adults: a retrospective analysis of the EWOG- MDS study group.
- Published in:
- British Journal of Haematology, 2016, v. 172, n. 6, p. 930, doi. 10.1111/bjh.13915
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- Publication type:
- Article
Haemoglobin Variant Screening in Jamaica: Meeting Student's Request.
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- British Journal of Haematology, 2016, v. 172, n. 4, p. 634, doi. 10.1111/bjh.13531
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- Publication type:
- Article
Outcomes of treatment for relapsed acute lymphoblastic leukaemia in children with Down syndrome.
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- British Journal of Haematology, 2013, v. 162, n. 1, p. 98, doi. 10.1111/bjh.12348
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- Publication type:
- Article
Nonsense-mediated decay approaches the clinic.
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- Nature Genetics, 2004, v. 36, n. 8, p. 801, doi. 10.1038/ng1403
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- Publication type:
- Article
Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 389, doi. 10.1038/ng578
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- Publication type:
- Article
Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany.
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- Pediatric Pulmonology, 2015, v. 50, n. 7, p. 655, doi. 10.1002/ppul.23190
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- Publication type:
- Article
Recommendations for diagnosis and treatment of methemoglobinemia.
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- American Journal of Hematology, 2021, v. 96, n. 12, p. 1666, doi. 10.1002/ajh.26340
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- Publication type:
- Article
Targeting class I histone deacetylase 2 in MYC amplified group 3 medulloblastoma.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 121, doi. 10.1186/s40478-015-0201-7
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- Publication type:
- Article
Systematic analysis of RNA-binding proteins identifies targetable therapeutic vulnerabilities in osteosarcoma.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47031-y
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- Publication type:
- Article
Nonsense-Mediated mRNA Decay and Loss-of-Function of the Protein Underlie the X-Linked Epilepsy Associated with the W356× Mutation in Synapsin I.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067724
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- Publication type:
- Article
Hemoglobinopathies Are on the Increase.
- Published in:
- 2010
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- Publication type:
- Editorial
Histone deacetylase inhibition sensitizes osteosarcoma to heavy ion radiotherapy.
- Published in:
- Radiation Oncology, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13014-015-0455-z
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- Publication type:
- Article
Histone deacetylase inhibition sensitizes osteosarcoma to heavy ion radiotherapy.
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- Radiation Oncology, 2015, v. 10, n. 1, p. 146, doi. 10.1186/s13014-015-0455-z
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- Publication type:
- Article
Treatment of pediatric patients and young adults with particle therapy at the Heidelberg Ion Therapy Center (HIT): establishment of workflow and initial clinical data.
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- Radiation Oncology, 2012, v. 7, n. 1, p. 170, doi. 10.1186/1748-717X-7-170
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- Publication type:
- Article
Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects.
- Published in:
- Annals of Hematology, 2012, v. 91, n. 7, p. 1129, doi. 10.1007/s00277-012-1453-y
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- Publication type:
- Article
Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing.
- Published in:
- Human Genetics, 2004, v. 114, n. 6, p. 541, doi. 10.1007/s00439-004-1114-x
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- Publication type:
- Article
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 249, doi. 10.1007/s00439-002-0901-5
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- Publication type:
- Article
Benefits of a Disease Management Program for Sickle Cell Disease in Germany 2011–2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 19, p. 4543, doi. 10.3390/jcm10194543
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- Publication type:
- Article
HIV-1 Recruits UPF1 but Excludes UPF2 to Promote Nucleocytoplasmic Export of the Genomic RNA.
- Published in:
- Biomolecules (2218-273X), 2015, v. 5, n. 4, p. 2808, doi. 10.3390/biom5042808
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- Publication type:
- Article
Newborn screening for abnormal haemoglobins in Jamaica: Practical issues in an island programme.
- Published in:
- Journal of Medical Screening, 2022, v. 29, n. 4, p. 219, doi. 10.1177/09691413221111209
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- Publication type:
- Article
The German sickle cell disease registry reveals a surprising risk of acute splenic sequestration and an increased transfusion requirement in patients with compound heterozygous sickle cell disease HbS/β‐thalassaemia and no or low HbA expression
- Published in:
- European Journal of Haematology, 2024, v. 113, n. 4, p. 501, doi. 10.1111/ejh.14259
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- Publication type:
- Article
The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1156, doi. 10.1038/sj.ejhg.5201889
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- Publication type:
- Article
Dual function of UPF3B in early and late translation termination.
- Published in:
- EMBO Journal, 2017, v. 36, n. 20, p. 2968, doi. 10.15252/embj.201797079
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- Publication type:
- Article
Unusual bipartite mode of interaction between the nonsense-mediated decay factors, UPF1 and UPF2.
- Published in:
- EMBO Journal, 2009, v. 28, n. 15, p. 2293, doi. 10.1038/emboj.2009.175
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- Publication type:
- Article
Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways.
- Published in:
- EMBO Journal, 2008, v. 27, n. 5, p. 736, doi. 10.1038/emboj.2008.17
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- Publication type:
- Article
3′ end mRNA processing: molecular mechanisms and implications for health and disease.
- Published in:
- EMBO Journal, 2008, v. 27, n. 3, p. 482, doi. 10.1038/sj.emboj.7601932
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- Publication type:
- Article
Splicing factors stimulate polyadenylation via USEs at non-canonical 3′ end formation signals.
- Published in:
- EMBO Journal, 2007, v. 26, n. 11, p. 2658, doi. 10.1038/sj.emboj.7601699
- By:
- Publication type:
- Article
Primary Chondrosarcoma of the Kidney.
- Published in:
- Urologia Internationalis, 2009, v. 83, n. 1, p. 116, doi. 10.1159/000224880
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- Publication type:
- Article
The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD).
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 8, p. 2355, doi. 10.1093/nar/gkl277
- By:
- Publication type:
- Article