Bernd Rautenstrauss

Summary

Affiliation: University of Erlangen-Nuremberg
Country: Germany

Publications

  1. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:548. 2007
  2. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type 1B
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:547. 2007
  3. ncbi request reprint Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:545. 2007
  4. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:545-6. 2007
  5. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:546. 2007
  6. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:546. 2007
  7. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:547. 2007
  8. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:547. 2007
  9. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:547. 2007
  10. ncbi request reprint Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:556. 2007

Collaborators

Detail Information

Publications34

  1. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:548. 2007
  2. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type 1B
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:547. 2007
  3. ncbi request reprint Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:545. 2007
  4. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:545-6. 2007
  5. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:546. 2007
  6. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:546. 2007
  7. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:547. 2007
  8. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:547. 2007
  9. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:547. 2007
  10. ncbi request reprint Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:556. 2007
  11. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:556. 2007
  12. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:558. 2007
  13. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Dejerine-Sottas syndrome
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:558. 2007
  14. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:557. 2007
  15. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:557. 2007
  16. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:557. 2007
  17. ncbi request reprint Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1
    Bernd Rautenstrauss
    University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:557. 2007
  18. ncbi request reprint Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B
    Bernd Rautenstrauss
    Universitatsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany
    Hum Genet 122:546. 2007
  19. pmc Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
    Alejandro Leal
    Institute of Human Genetics, Friedrich Alexander University, Schwabachanlage 10, 91054, Erlangen, Germany
    Neurogenetics 10:275-87. 2009
    ..These results suggest a potential role of this protein in the molecular etiology of CMT2B2 and suggest a potential, more general role of MED25 in gene dosage sensitive peripheral neuropathy pathogenesis...
  20. doi request reprint Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma
    Francesca Pasutto
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Invest Ophthalmol Vis Sci 51:249-54. 2010
    ..The present study was conducted to determine whether heterozygous functionally characterized CYP1B1 mutations are associated with the disease in a large cohort of German patients with POAG...
  21. pmc Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma
    Lorena Fernández-Martínez
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Eur J Hum Genet 19:445-51. 2011
    ....
  22. ncbi request reprint Identification of Alu elements mediating a partial PMP22 deletion
    Verena Matejas
    Institute of Human Genetics, Friedrich Alexander University, Erlangen, Germany
    Neurogenetics 7:119-26. 2006
    ..These data confirm that low-copy repeats (LCRs) mediate non-allelic homologous recombinations (NAHR)...
  23. ncbi request reprint Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis
    Kathrin Huehne
    University Hospital Erlangen, Institute of Human Genetics, Erlangen, Germany
    Neuromuscul Disord 18:159-66. 2008
    ..7335164-7336545del), a homozygous insertion c.722_723insC in exon 7 and two compound heterozygous mutations (p.Q558X+p.L717R). The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation...
  24. doi request reprint Profiling of WDR36 missense variants in German patients with glaucoma
    Francesca Pasutto
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, Erlangen, Germany
    Invest Ophthalmol Vis Sci 49:270-4. 2008
    ..In this study, the prevalence of WDR36 variants was investigated in patients with glaucoma who were of German descent with diverse age of onset and intraocular pressure levels...
  25. doi request reprint Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme
    Gabriela Chavarria-Soley
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Hum Mutat 29:1147-53. 2008
    ..We propose that CYP1B1 mutations can act by either reducing enzymatic activity (p.G61E and p.N203S), reducing the abundance of the enzyme (p.Y81N and p.E229 K), or both (p.L343del)...
  26. ncbi request reprint Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3
    Corinna Berghoff
    Department of Neurology, University of Erlangen Nuremberg, Erlangen, Germany
    Neuromuscul Disord 14:301-6. 2004
    ..Electrophysiological studies revealed a primary axonal degenerative process. The clinical characteristics of this family differed in several aspects from previously reported families with ARCMT2...
  27. ncbi request reprint Heterologous expression of wildtype and mutant myocilin in High Five insect cells shows comparable effects to cultivated trabecular meshwork cells
    Sevinc Oezbey
    University Hospital Erlangen, Institute of Human Genetics, Schwabachanlage 10, 91054, Erlangen, Germany
    Biomol Eng 24:313-7. 2007
    ..A direct attachment of ribosomes to these growing vesicles preceding the cell death was observed by electron microscopy. Our observations indicate that this system is suitable to trace the intracellular effects of MYOC mutants...
  28. pmc Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins
    Arif B Ekici
    Institute of Human Genetics, Friedrich Alexander University, Erlangen, Germany
    BMC Cell Biol 3:29. 2002
    ..To trace the effects in live cells, green fluorescent protein (GFP) has been added to the carboxyterminus of the wild type and mutated P0 protein...
  29. ncbi request reprint Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family
    Alejandro Leal
    Institute of Health Research INISA and School of Biology, University of Costa Rica, San Jose, Costa Rica
    Neurogenetics 4:191-7. 2003
    ..On electron microscopy axonal degeneration and decompaction of inner myelin layers were found. This Costa Rican family shows phenotypic variability depending on the homozygous or heterozygous state of the Tyr145Ser mutation carriers...
  30. ncbi request reprint A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
    Christian T Thiel
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Eur J Hum Genet 11:170-8. 2003
    ..Thus, this method shows superior sensitivity to microsatellite analysis and has the additional advantage of being a fast and uniform assay for quantitative analysis of both CMT1A and HNPP...
  31. doi request reprint Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India
    A Nalini
    Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore 560 029, India
    Eur J Med Genet 51:426-35. 2008
    ..Here, we report a family originating in India with two patients showing typical clinical signs suggestive of GAN...
  32. pmc Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
    ..Comparative sequence alignments indicate that members of this protein family contain multiple SH3 and TPR domains that are likely involved in the formation of protein complexes...
  33. ncbi request reprint Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD)
    Gabriela Chavarria-Soley
    Institute of Human Genetics, Schwabachanlage 10, 91054 Erlangen, Germany
    J Glaucoma 15:499-504. 2006
    ..Sequence analysis for the PAX6, PITX2, FOXC1, and CYP1B1 genes has been implemented for this purpose...
  34. ncbi request reprint Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients
    Karin Michels-Rautenstrauss
    Institute of Human Genetics, Schwabachanlage 10, Friedrich Alexander University FAU of Erlangen Nurnberg, D 91054 Erlangen, Germany
    Hum Mutat 20:479-80. 2002
    ..Myocilin mutations were identified similar with previous reports with other ethnic populations at the rate of 11/341 (3.2%) probands...