Prof. Dr. Rudi Balling
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| Fakultät oder Zentrum | Luxembourg Centre for Systems Biomedicine | ||||||
| Forschungseinheit | LCSB | ||||||
| Postadresse |
Université du Luxembourg 6, avenue du Swing L-4367 Belvaux |
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| Büroadresse | BioTech II, 2.02 | ||||||
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| Telefon | (+352) 46 66 44 6922 | ||||||
| Fax | (+352) 46 66 44 36922 | ||||||
| Video |
Prof. Dr. Rudi Balling - Director
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Director
Last updated on: Donnerstag, den 16. August 2018
2019
From Diagnosing Diseases to Predicting Diseases; ; ; ; ;
in Betz, Ulrich A.K. (Ed.) Curious2018 (2019)
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in American journal of human genetics (2019)
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.; ; ; ; ; ; ; ; ; ;
in New England Journal of Medicine (2019), 380(16), 24
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Communications (2019), 10(1), 708
2018
Presenting and Sharing Clinical Data using the eTRIKS Standards Master Tree for tranSMART; ; ; ; ; ; ; ; ; ; ; ; ;
in Bioinformatics (2018)
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic Epilepsy; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in European Journal of Human Genetics (2018)
A rare loss-of function variant of ADAM17 is associated with late-onset familial Alzheimer disease; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Molecular Psychiatry (2018)
The Luxembourg Parkinson’s Study: A Comprehensive Approach for Stratification and Early Diagnosis; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Frontiers in Aging Neuroscience (2018), 10
Rare gene deletions in genetic generalized and Rolandic epilepsies; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in PLoS ONE (2018)
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Lancet Neurology (2018), 17(8), 699-708
Rare ABCA7 variants in 2 German families with Alzheimer disease; ; ; ; ; ; ; ; ;
in Neurology Genetics (2018), 4(2),
Systems medicine disease maps: community-driven comprehensive representation of disease mechanisms.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in NPJ systems biology and applications (2018), 4
Community-driven roadmap for integrated disease maps.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Briefings in bioinformatics (2018)
Single-cell transcriptomics reveals distinct inflammation-induced microglia signatures; ; ; ; ; ; ; ; ; ; ; ;
in EMBO Reports (2018)
2017
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in European Journal of Human Genetics (2017)
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in American Journal of Human Genetics (2017), 100(1), 179-
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Neurobiology of Aging (2017)
IDENTIFICATION OF A RARE GENE VARIANT THAT IS ASSOCIATED WITH FAMILIAL ALZHEIMER DISEASE AND REGULATES APP EXPRESSION; ; ; ; ; ; ; ; ; ; ; ; ;
in Alzheimer's & Dementia : The Journal of the Alzheimer's Association (2017), 13(7, Supplement), 648
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects; ; ; ; ; ; ; ; ; ; ; ; ;
in American Journal of Medical Genetics. Part A (2017), 173(4), 1119-1123
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Brain : A Journal of Neurology (2017), 140(11), 2879-2894
Embryonic development of selectively vulnerable neurons in Parkinson’s disease; ; ;
in NPJ Parkinson's Disease (2017), 3
The P4 Health Spectrum - A Predictive, Preventive, Personalized and Participatory Continuum for Promoting Healthspan.; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Progress in cardiovascular diseases (2017), 59(5), 506-521
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in American Journal of Human Genetics (2017), 100(4), 676-688
Alterations in the α2δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Epilepsia (2017)
2016
Characterization of Differentiated SH-SY5Y as Neuronal Screening Model Reveals Increased Oxidative Vulnerability; ; ; ; ; ; ;
in Journal of Biomolecular Screening : The Official Journal of the Society for Biomolecular Screening (2016)
Making sense of big data in health research: Towards an EU action plan.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Genome medicine (2016), 8(1), 71
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Molecular Genetics & Genomic Medicine (2016), 4(5), 568-80
MINERVA—a platform for visualization and curation of molecular interaction networks; ; ; ; ; ; ; ; ; ;
in NPJ Systems Biology and Applications (2016)
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Brain : A Journal of Neurology (2016)
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in PLoS ONE (2016)
Influenza H3N2 infection of the collaborative cross founder strains reveals highly divergent host responses and identifies a unique phenotype in CAST/EiJ mice.; ; ; ; ; ; ; ;
in BMC genomics (2016), 17(1), 143
Toward Omics-Based, Systems Biomedicine, and Path and Drug Discovery Methodologies for Depression-Inflammation Research; ; ; ; ; ; ; ; ; ; ;
in Molecular Neurobiology (2016), 53(5), 2927-2935
Neurological Diseases from a Systems Medicine Point of View.; ;
in Methods in molecular biology (Clifton, N.J.) (2016), 1386
Integration and Visualization of Translational Medicine Data for Better Understanding of Human Diseases.; ; ; ; ; ; ; ;
in Big data (2016), 4(2), 97-108
2015
A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Communications (2015), 6(8829),
Staining for unphosphorylated alpha-synuclein in the colon mucosa. No difference between patients with Parkinson's disease and healthy controls; ; ; ; ; ; ; ; ;
Scientific Conference (2015, June)
Platelet mitochondrial membrane potential in Parkinson's disease.; ; ; ; ; ; ; ; ; ;
in Annals of clinical and translational neurology (2015), 2(1), 67-73
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Brain : A Journal of Neurology (2015)
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly; ; ; ; ; ; ; ; ; ; ; ;
in Human Molecular Genetics (2015), 24(8), 2218-2227
The Mouse Brain Metabolome: Region-Specific Signatures and Response to Excitotoxic Neuronal Injury; ; ; ; ; ; ; ; ;
in American Journal of Pathology (2015), 185(6), 1699-1712
The phenotypic spectrum of SCN8A encephalopathy; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Neurology (2015), 84(5), 480-489
Global implementation of genomic medicine: We are not alone.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Science translational medicine (2015), 7(290), 29013
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2015), 47(4), 393-9
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Neurology (2015), 84(9), 951-958
Critical transitions in chronic disease: transferring concepts from ecology to systems medicine; ; ; ;
in Current Opinion in Biotechnology (2015), 34
2014
Analysis of mitochondrial membrane potential in idiopathic Parkinson's disease: A case-control study; ; ; ; ; ;
Scientific Conference (2014, June 12)
Curation of complex molecular pathways of Parkinson's disease as a collaborative scientific community effort; ; ; ; ; ;
Scientific Conference (2014, June 12)
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in American Journal of Human Genetics (2014), 4
Neurodegeneration by Activation of the Microglial Complement–Phagosome Pathway; ; ; ; ; ; ; ; ; ; ;
in Journal of Neuroscience (2014), 34(25), 8546-8556
Systems medicine approaches for the definition of complex phenotypes in chronic diseases and ageing. From concept to implementation and policies.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Current pharmaceutical design (2014), 20(38), 5928-44
Integrating Pathways of Parkinson's Disease in a Molecular Interaction Map; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Molecular Neurobiology (2014)
Comparison of ODE-based models for reactive oxygen species regulation system; ; ;
in Proceedings of ICCSA 2014 (2014, June)
ROS-activated signaling network: dynamic modelling and design principles study; ; ; ; ; ; ; ; ;
Poster (2014, June)
ROS homeostasis in a dynamic model: How to save PD neuron?; ; ; ; ; ; ; ; ; ; ; ;
Poster (2014, December)
Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson’s disease; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in BMC Genomics (2014), 15(1154),
De novo mutations in HCN1 cause early infantile epileptic encephalopathy; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2014)
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2014), 46(12), 1327-32
2013
Functional Genomics, Proteomics, Metabolomics and Bioinformatics for Systems Biology; ; ; ; ; ; ; ; ; ; ; ;
in Prokop, Ales; Csukás, Bela (Eds.) Systems Biology: Integrative Biology and Simulation Tools (2013)
Network analysis for systems biology; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Prokop, Aleš; Csukás (Eds.) Springer book in Systems Biology, Vol.1: Systems Biology:, Integrative Biology and Simulation Tools (2013)
On different aspects of network analysis in systems biology; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Systems Biology (2013), 1
Computational infrastructures for data and knowledge management in systems biology; ; ; ; ; ; ; ; ; ;
in Prokop, Ales; Csukás, Bela (Eds.) Systems Biology: Integrative Biology and Simulation Tools (2013)
The role of regulatory T cells in neurodegenerative diseases.;
in Wiley Interdisciplinary Reviews. Systems Biology and Medicine (2013), 5(2), 153-80
Design principles study of ROS management and ROS-induced mitophagy with a kinetic model; ; ; ; ; ; ;
Poster (2013, September 27)
ROS-induced regulation of mitophagy and its failure in Parkinson’s disease; ; ; ; ; ; ; ;
Poster (2013, May)
Immune-responsive gene 1 protein links metabolism to immunity by catalyzing itaconic acid production; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Proceedings of the National Academy of Sciences of the United States of America (2013)
The Parkinson's Disease Map: A Framework for Integration, Curation and Exploration of Disease-related Pathways; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
Poster (2013, March 09)
Controlling complexity: the clinical relevance of mouse complex genetics.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in European journal of human genetics : EJHG (2013), 21(11), 1191-6
2012
From Systems Biology to Systems Biomedicine; ;
in Current Opinion in Biotechnology (2012), 23(4), 604-8
PLAU inferred from a correlation network is critical for suppressor function of regulatory T cells.; ; ; ; ; ; ; ;
in Molecular Systems Biology (2012), 8
Revolutionizing medicine in the 21(st) century through systems approaches; ;
in Biotechnology Journal (2012), 7(8), 937-1054
Emergence of the silicon human and network targeting drugs; ; ; ; ; ; ; ; ; ; ;
in European Journal of Pharmaceutical Sciences (2012), 46(4), 190-197
Understanding complexity in neurodegenerative diseases: in silico reconstruction of emergence.; ; ;
in Frontiers in Physiology (2012), 3
A kinetic model and design principles study of cellular ROS defence and its failure in Parkinson’s disease; ; ;
Poster (2012, August)
Constructing a comprehensive map of Parkinson’s disease to elucidate underlying mechanisms of its multifaceted molecular pathology; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
Poster (2012, August)
2011
4D Biology for health and disease; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in New Biotechnology (2011), 28(4), 291-293
Parkinson’s disease mouse models in translational research; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2011), 22(7-8), 401-19
Systems medicine and integrated care to combat chronic noncommunicable diseases; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Genome Medicine (2011), 3(7), 43-47
Candidate mutations for early-onset lung cancer by family genome sequencing; ; ; ; ; ; ; ; ; ;
Poster (2011, July)
2010
A non-functioning vitamin D receptor predisposes to leukaemoid reactions in mice; ; ; ; ; ; ;
in Hematological Oncology (2010), 28(4), 185-191
EuroPhenome: a repository for high-throughput mouse phenotyping data; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nucleic Acids Research (2010), 38(1), 577-585
The bumpy road to personalized healthcare.;
in European Biotechnology Science & Industry News (2010), 9(7-8),
FOXP3: required but not sufficient. the role of GARP (LRRC32) as a safeguard of the regulatory phenotype.; ;
in Current Molecular Medicine (2010), 10(6), 533-539
SYSGENET: a meeting report from a new European network for systems genetics; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2010), 21(7-8), 331-6
Finding and sharing: new approaches to registries of databases and services for the biomedical sciences; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Database: the Journal of Biological Databases and Curation (2010), Jul 6
2009
Reverse engineering and verification of gene networks: principles, assumptions, and limitations of present methods and future perspectives.; ;
in Journal of Biotechnology (2009), 144(3), 190-203
Humanized mice for modeling human infectious disease: challenges, progress, and outlook.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Cell Host & Microbe (2009), 6(1), 5-9
GARP: a key receptor controlling FOXP3 in human regulatory T cells; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Journal of Cellular & Molecular Medicine (2009), 13(9B), 3343-57
2008
Commentaries on "Informatics and medicine: from molecules to populations".; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Methods of Information in Medicine (2008), 47(4), 296-317
2007
From mouse genetics to systems biology.in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2007), 18(6-7), 383-8
Dynamic cumulative activity of transcription factors as a mechanism of quantitative gene regulation.; ; ;
in Genome Biology (2007), 8(9), 181
Molecular basis for skeletal variation: insights from developmental genetic studies in mice.; ; ;
in Birth Defects Research. Part B, Developmental and Reproductive Toxicology (2007), 80(6), 425-50
2006
Phenotyping of host-pathogen interactions in mice. In Standards of Mouse Model Phenotyping; ;
in Harbe de Angelis, M; Chambon, P; Brown, S (Eds.) Phenotyping of host-pathogen interactions in mice. In Standards of Mouse Model Phenotyping (2006)
2005
EMPReSS: standardized phenotype screens for functional annotation of the mouse genome.; ; ; ;
in Nature Genetics (2005), (37), 1155
1alpha,25-Dihydroxyvitamin D3 is a potent suppressor of interferon gamma-mediated macrophage activation.; ; ; ; ; ; ; ;
in Blood (2005), 106(13), 4351-8
2004
The European dimension for the mouse genome mutagenesis program.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2004), 36(9), 925-7
Reduced intragraft mRNA expression of matrix metalloproteinases Mmp3, Mmp12, Mmp13 and Adam8, and diminished transplant arteriosclerosis in Ccr5-deficient mice.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in European Journal of Immunology (2004), 34(9), 2568-78
Maintaining your immune system--one method for enhanced longevity.; ; ;
in Science of Aging Knowledge Environment [=SAGE KE] (2004), 2004(1), 2
2003
Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome.; ; ; ;
in Development (2003), 130(3), 473-82
Targeted disruption of the peptide transporter Pept2 gene in mice defines its physiological role in the kidney.; ; ; ; ; ;
in Molecular & Cellular Biology (2003), 23(9), 3247-52
Impaired insulin secretory capacity in mice lacking a functional vitamin D receptor.; ; ; ; ;
in FASEB Journal (2003), 17(3), 509-11
2002
Deletion of deoxyribonucleic acid binding domain of the vitamin D receptor abrogates genomic and nongenomic functions of vitamin D.; ; ; ; ; ; ; ;
in Molecular endocrinology (Baltimore, Md.) (2002), 16(7), 1524-37
Genetic and molecular control of folate-homocysteine metabolism in mutant mice.; ; ; ; ; ; ; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2002), 13(5), 259-67
Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus.; ; ; ; ; ;
in Journal of Pathology (The) (2002), 197(3), 293-7
V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice.; ; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2002), 13(8), 452-5
Thymopoiesis requires Pax9 function in thymic epithelial cells.; ; ; ; ;
in European Journal of Immunology (2002), 32(4), 1175-81
Hydrogen peroxide-mediated killing of Caenorhabditis elegans by Streptococcus pyogenes.; ; ; ;
in Infection and Immunity (2002), 70(9), 5202-7
Conditional inactivation of Sox9: a mouse model for campomelic dysplasia.; ; ;
in Genesis (New York, N.Y. : 2000) (2002), 32(2), 121-3
Respiratory mechanics in mice: strain and sex specific differences.; ; ; ; ; ;
in Acta Physiologica Scandinavica (2002), 174(4), 367-75
In situ gene expression analysis during BMP2-induced ectopic bone formation in mice shows simultaneous endochondral and intramembranous ossification.; ; ; ; ; ;
in Growth factors (Chur, Switzerland) (2002), 20(4), 197-210
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2002), 30(3), 257-8
2001
Enu mouse mutagenesis: generation of mouse mutants with aberrant plasma IgE levels.; ; ; ; ; ; ;
in International Archives of Allergy & Immunology (2001), 124(1-3), 25-8
ENU mutagenesis: analyzing gene function in mice.in Annual Review of Genomics & Human Genetics (2001), 2
Systematic approaches to mouse mutagenesis.;
in Current Opinion in Genetics & Development (2001), 11(3), 268-73
Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.; ; ; ; ; ; ; ; ;
in Genetics (2001), 157(3), 1313-20
Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.; ; ; ; ; ; ; ;
in Investigative Ophthalmology & Visual Science (2001), 42(12), 2909-15
Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract.; ; ; ; ; ; ; ;
in Experimental Eye Research (2001), 73(6), 867-76
Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse.; ; ; ; ; ; ;
in Investigative Ophthalmology & Visual Science (2001), 42(7), 1574-80
The Notch ligand Jagged1 is required for inner ear sensory development.; ; ; ; ; ;
in Proceedings of the National Academy of Sciences of the United States of America (2001), 98(7), 3873-8
The battle of two genomes: genetics of bacterial host/pathogen interactions in mice.; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2001), 12(4), 261-71
Sequence interpretation. Functional annotation of mouse genome sequences.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Science (2001), 291(5507), 1251-5
Comparative analysis of the genomic organization of Pax9 and its conserved physical association with Nkx2-9 in the human, mouse, and pufferfish genomes.; ; ; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2001), 12(3), 232-7
2000
From developmental biology to developmental toxicology.;
in Annals of the New York Academy of Sciences (2000), 919
A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression.; ; ; ; ; ; ; ;
in Human Molecular Genetics (2000), 9(2), 227-36
Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2000), 11(7), 528-30
Genome-wide, large-scale production of mutant mice by ENU mutagenesis.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Nature Genetics (2000), 25(4), 444-7
The clinical-chemical screen in the Munich ENU Mouse Mutagenesis Project: screening for clinically relevant phenotypes.; ; ; ; ; ; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2000), 11(7), 543-6
Large-scale N-ethyl-N-nitrosourea mutagenesis of mice--from phenotypes to genes.; ; ; ; ; ; ;
in Experimental Physiology (2000), 85(6), 635-44
The biochemical metabolite screen in the Munich ENU Mouse Mutagenesis Project: determination of amino acids and acylcarnitines by tandem mass spectrometry.; ; ; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2000), 11(7), 547-51
The large-scale Munich ENU-mouse-mutagenesis screen.; ; ; ; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (2000), 11(7), 507-10
1999
Zic1 regulates the patterning of vertebral arches in cooperation with Gli3.; ; ; ; ; ;
in Mechanisms of Development (1999), 89(1-2), 141-50
Spatio-temporal distribution of chondromodulin-I mRNA in the chicken embryo: expression during cartilage development and formation of the heart and eye.; ; ; ;
in Developmental Dynamics : An Official Publication of the American Association of Anatomists (1999), 216(3), 233-43
Notochord-dependent expression of MFH1 and PAX1 cooperates to maintain the proliferation of sclerotome cells during the vertebral column development.; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
in Developmental Biology (1999), 210(1), 15-29
Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse.; ; ; ; ; ; ; ; ; ;
in Genomics (1999), 62(1), 67-73
Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival.; ; ; ; ; ;
in Journal of Neurocytology (1999), 28(10-11), 969-85
Cadherin-11 is highly expressed in rhabdomyosarcomas and during differentiation of myoblasts in vitro.; ; ; ; ; ; ;
in Journal of Pathology (The) (1999), 187(2), 164-72
Reliable recovery of inbred mouse lines using cryopreserved spermatozoa.; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1999), 10(8), 773-6
Overexpression of activin A in the skin of transgenic mice reveals new activities of activin in epidermal morphogenesis, dermal fibrosis and wound repair.; ; ; ; ; ; ; ; ;
in EMBO Journal (1999), 18(19), 5205-15
Pax1 and Pax9 synergistically regulate vertebral column development.; ; ; ; ;
in Development (1999), 126(23), 5399-408
1998
We need more mutants: Plans for a large scale ENU mouse mutagenesis screen; ; ;
in OECD Proceedings (1998), (98), 103-111
A locus for radiation-induced gastroschisis on mouse Chromosome 7.; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1998), 9(12), 995-7
Inhibitory action of BMPs on Pax1 expression and on shoulder girdle formation during limb development.; ; ; ;
in Developmental Dynamics : An Official Publication of the American Association of Anatomists (1998), 213(2), 199-206
Large scale ENU screens in the mouse: genetics meets genomics.;
in Mutation research (1998), 400(1-2), 25-32
Pax genes and organogenesis: Pax9 meets tooth development.; ;
in European Journal of Oral Sciences (1998), 106 Suppl 1
Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.; ; ;
in Genes & Development (1998), 12(17), 2735-47
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor.; ; ; ; ; ; ; ; ;
in Human Genetics (1998), 103(2), 115-23
Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency.; ; ; ;
in Proceedings of the National Academy of Sciences of the United States of America (1998), 95(15), 8692-7
1997
Pax genes and organogenesis.; ;
in BioEssays : news and reviews in molecular, cellular and developmental biology (1997), 19(9), 755-65
Segment-specific expression of the gap junction gene connexin 31 during hindbrain development; ;
in Development Genes & Evolution (1997), (207), 359-361
Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation.; ; ;
in Cell (1997), 90(2), 247-55
The Genetics of Vertebral Column Development; ; ; ;
in Thiel; Klug (Eds.) Methods in Developmental Toxicology (1997)
Isolation of the Pax9 cDNA from adult human esophagus.; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1997), 8(1), 62-4
1996
A role for mel-18, a Polycomb group-related vertebrate gene, during theanteroposterior specification of the axial skeleton.; ; ; ; ;
in Development (1996), 122(5), 1513-22
Von Knick- und Ringelschwänzen - Mäuse als Modellorganismusin Forschung-Mitteilungen der DFG (1996), (2), 13-14
Drug Toxicity in Embryonic Development; Chapter 4: Axial Skeletonin Kavlock, R; Daston, G (Eds.) Handbook of Experimental Pharmacology (1996)
Pax genes and skeletal development.; ; ; ; ;
in Annals of the New York Academy of Sciences (1996), 785
Pax genes and sclerotome induction; ;
in Seminars in Cell & Developmental Biology (1996), (7), 129-136
Analysis of limb patterning in BMP-7-deficient mice.; ; ;
in Developmental Genetics (1996), 19(1), 43-50
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.; ; ; ; ; ; ; ;
in Journal of Medical Genetics (1996), 33(8), 655-60
Rbt (Rabo torcido), a new mouse skeletal mutation involved in anteroposterior patterning of the axial skeleton, maps close to the Ts (tail-short) locus and distal to the Sox9 locus on chromosome 11.; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1996), 7(12), 881-5
Expression of avian Pax1 and Pax9 is intrinsically regulated in the pharyngeal endoderm, but depends on environmental influences in the paraxial mesoderm.; ; ; ; ; ;
in Developmental Biology (1996), 178(2), 403-17
Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation.; ; ; ; ;
in Development (1996), 122(1), 23-30
Development of the vertebral column: Morphogenesis and genes; ; ; ; ; ; ;
in Vorgel, R; Fanghaenel, J; Giebel, J (Eds.) Aspects of Teratologie (1996)
1995
Von Mäusen und Menschen In: “Genetische Determinierung: Schicksal aus den Genen?”in GSF-Mensch und Umwelt (1995), (10), 17-23
Pax-1, a regulator of sclerotome development is induced by notochord and floor plate signals in avian embryos.; ; ; ; ; ;
in Anatomy & Embryology (1995), 191(4), 297-310
Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice.; ; ; ; ; ;
in Nature Genetics (1995), 11(1), 60-3
Chromosomal localization of the murine cadherin-11.;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1995), 6(4), 304
Cloning and expression analysis of a novel mesodermally expressed cadherin.;
in Developmental Biology (1995), 169(1), 337-46
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.; ; ; ; ; ; ; ;
in Nature Genetics (1995), 11(1), 93-5
Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1.; ;
in Developmental Biology (1995), 170(2), 701-16
Assignment of the paired box gene Pax1 to rat chromosome 3.; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1995), 6(9), 666-7
1994
The undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue?in Clinical Dysmorphology (1994), 3(3), 185-91
[Transgenic mice--biological fundamentals, practices and applications].in DTW. Deutsche tierarztliche Wochenschrift (1994), 101(3), 94-5
Mouse genetics and the development of vertebral column development; ; ; ; ;
in Proceedings Greenwood Genetics Center (1994), (13), 58-60
Initial steps of myogenesis in somites are independent of influence from axial structures.; ; ; ; ; ; ;
in Development (1994), 120(11), 3073-82
Expression and function of Pax 1 during development of the pectoral girdle.; ; ;
in Development (1994), 120(10), 2773-85
1993
The ventralizing effect of the notochord on somite differentiation in chick embryos.; ; ; ;
in Anatomy & Embryology (1993), 188(3), 239-45
Analysis of the Pax-3 gene in the mouse mutant splotch.; ; ; ; ; ; ; ;
in Genomics (1993), 17(2), 355-63
The genetic map around the tail kinks (tk) locus on mouse chromosome 9.; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1993), 4(10), 560-4
A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae.; ; ; ; ; ; ; ;
in Development (1993), 119(3), 649-60
Fine genetic mapping of the proximal part of mouse chromosome 2 excludes Pax-8 as a candidate gene for Danforth's short tail (Sd).; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1993), 4(6), 324-7
Mapping of the Mod-1 locus on mouse chromosome 9.; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1993), 4(6), 333-7
A new Pax gene, Pax-9, maps to mouse chromosome 12.; ; ; ; ; ; ;
in Mammalian Genome : Official Journal of the International Mammalian Genome Society (1993), 4(7), 354-8
1992
The molecular and genetic analysis of mouse development.;
in European Journal of Biochemistry (1992), 204(1), 5-11
Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH).; ; ; ; ;
in Genomics (1992), 14(3), 740-4
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.; ; ; ; ; ;
in Nature (1992), 355(6361), 635-6
1991
Separate elements cause lineage restriction and specify boundaries of Hox-1.1 expression.; ;
in Development (1991), 112(1), 279-87
Pax: a murine multigene family of paired box-containing genes.; ; ; ; ; ; ; ;
in Genomics (1991), 11(2), 424-34
Structure, expression and chromosomal location of the Oct-4 gene.; ; ; ;
in Mechanisms of Development (1991), 35(3), 171-9
1990
Variations of cervical vertebrae after expression of a Hox-1.1 transgene in mice.; ;
in Cell (1990), 61(2), 301-8
Analysis of the spatial and temporal control of Hox 1.1 in transgenic mice; ;
in Development (1990), (108), 435-442
Position-specific activity of the Hox1.1 promoter in transgenic mice.; ;
in Development (1990), 108(3), 435-42
Oct-4: a germline-specific transcription factor mapping to the mouse t-complex; ; ; ;
in EMBO journal (1990), (9), 2185-2195
Tumorigenesis and eye abnormalities in transgenic mice expressing MSV-SV40 large T-antigen.; ; ; ; ; ;
in Oncogene (1990), 5(2), 225-32
1989
Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice.; ; ;
in Cell (1989), 58(2), 337-47
Structure, expression and chromosomal localization of Zfp-1, a murine zinc finger protein gene.; ; ; ;
in Nucleic Acids Research (1989), 17(24), 10427-38
Octamer binding proteins confer transcriptional activity in early mouse embryogenesis.; ; ; ;
in EMBO Journal (1989), 8(9), 2551-7
Transcriptional activity of the octamer motif in embryonic stem cells and preimplantation embryos; ; ; ;
in Hormones and Cell Regulation (1989), 198(14), 91-95
A family of octamer-specific proteins present during mouse embryogenesis: evidence for germline-specific expression of an Oct factor.; ; ; ;
in EMBO Journal (1989), 8(9), 2543-50
1988
undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1.; ;
in Cell (1988), 55(3), 531-5
Murine Genes with homology to Drosophila segmentation genes.; ; ; ; ;
in Development (1988), 0(104), 181-186
A mouse gene homologous to the Drosophila gene caudal is expressed in epithelial cells from the embryonic intestine.; ; ; ; ; ;
in Genes & Development (1988), 2(12A), 1647-54
1987
Degree of methylation of transgenes is dependent on gamete of origin.; ; ;
in Nature (1987), 328(6127), 251-4
1985
Oxidative and conjugative metabolism of diethylstilbestrol by rabbit preimplantation embryos.; ; ; ;
in Developmental Biology (1985), 109(2), 370-4
Insertion of a bacterial gene into the mouse germ line using an infectious retrovirus vector.; ; ; ; ; ;
in Proceedings of the National Academy of Sciences of the United States of America (1985), 82(24), 8587-91
1984
1981
Effect Of Dietary Asparagine And Protein-Equivalents In Crystalline Amino-Acid Diets On Asparagine Metabolism In Chicks;
in Journal of Nutrition (1981), 111(10), 1749-1756
