Research Topics
Genomes and Genes | Tim M StromSummaryCountry: Germany Publications
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Publications
PHEX, FGF23, DMP1 and beyondTim M Strom
Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Munich Neuherberg, Germany
Curr Opin Nephrol Hypertens 17:357-62. 2008..In addition, we describe how an improved knowledge of the mechanisms leading to changes in renal phosphate handling may lead to the development of novel therapeutic approaches...- Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNicole J D Weegerink
Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
J Assoc Res Otolaryngol 12:753-66. 2011..Evaluation of performance of patients with a cochlear implant indicated that this is a good treatment option for patients with TMPRSS3 mutations as satisfactory speech reception was reached after implantation... - DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasisBettina Lorenz-Depiereux
Institute of Human Genetics, GSF National Research Center for Environment and Health, 85764 Munich Neuherberg, Germany
Nat Genet 38:1248-50. 2006.... - An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemiaAnna Benet-Pages
Institute of Human Genetics, GSF National Research Center for Environment and Health, Ingolstadter Landstr 1, 85764 Munich Neuherberg, Germany
Hum Mol Genet 14:385-90. 2005..These results suggest that the FGF23 function is decreased by absent or extremely reduced secretion of intact FGF23. We conclude that FGF23 mutations in hypophosphatemic rickets and FTC have opposite effects on phosphate homeostasis... - Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic ricketsBettina Lorenz-Depiereux
Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
Am J Hum Genet 86:267-72. 2010..Surprisingly, ENPP1 loss-of-function mutations have previously been described in generalized arterial calcification of infancy, suggesting an as yet elusive mechanism that balances arterial calcification with bone mineralization... - Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardationJanine Wagenstaller
Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich Neuherberg, Germany
Am J Hum Genet 81:768-79. 2007..In addition to the 67 children, we investigated 4 mentally retarded children with apparent balanced translocations and detected four deletions at breakpoint regions ranging in size from 1.1 to 14 Mb... - Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discoverySebastian H Eck
Institute of Human Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Ingolstädter Landstr, 85764 Neuherberg, Germany
Genome Biol 10:R82. 2009..In an attempt to evaluate the variance of a second breed, we have produced a whole genome sequence at low coverage of a single Fleckvieh bull... - Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterizationMaja Hempel
Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
Am J Med Genet A 149:2106-12. 2009..2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay... - FGF23 is processed by proprotein convertases but not by PHEXAnna Benet-Pages
Institute of Human Genetics, GSF National Research Center, 85764 München Neuherberg, Germany
Bone 35:455-62. 2004..These experiments provided evidence against cleavage of intact FGF23(25-251) as well as of N-terminal (FGF23(25-179)) and C-terminal (FGF23(180-251)) fragments by the endopeptidase PHEX... - Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3Bettina Lorenz-Depiereux
Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich Neuherberg, Germany
Am J Hum Genet 78:193-201. 2006..Identification of the gene mutated in a further form of hypophosphatemia adds to the understanding of phosphate homeostasis and may help to elucidate the interaction of the proteins involved in this pathway... - CpG-methylation regulates a class of Epstein-Barr virus promotersMartin Bergbauer
Department of Gene Vectors, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Munich, Germany
PLoS Pathog 6:e1001114. 2010..Our findings indicate that Zta has evolved to transactivate cytosine-methylated, hence repressed, silent promoters as a rule to overcome epigenetic silencing... - Cohen syndrome diagnosis using whole genome arraysNúria Rivera-Brugués
Institute of Human Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany
J Med Genet 48:136-40. 2011..Point mutations, deletions and duplications have been described in this gene. Oligonucleotide arrays have reached a resolution which allows the detection of intragenic deletions and duplications, especially in large genes such as COH1... - Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureRami Abou Jamra
Institute of Human Genetics, University of Erlangen, D 91054 Erlangen, Germany
Am J Hum Genet 88:788-95. 2011.... - New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in miceBettina Lorenz-Depiereux
Institute of Human Genetics, GSF National Research Center, München Neuherberg, Germany
Mamm Genome 15:151-61. 2004..Also, identification of the genetic modifiers of hearing and craniofacial dysmorphology in Phex(Hyp-Duk)/Y mice could provide insight into the phenotypic variation of XLH in humans... - The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedMonika Grabowski
Institute of Human Genetics, GSF National Research Center, D 85764 München Neuherberg, Germany
Eur J Hum Genet 11:138-44. 2003..We investigated one affected female that inherited the mutated allele from her mother. Surprisingly, we found the paternal wild type allele expressed whereas the mutated maternal allele was not detectable in peripheral blood cDNA... - Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylationKentaro Kato
Department of Medical Biochemistry and Genetics, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
J Biol Chem 281:18370-7. 2006..The study suggests a novel posttranslational regulatory model of FGF23 involving competing O-glycosylation and protease processing to produce intact FGF23...