Lisbeth Tranebjaerg

Summary

Affiliation: University of Troms
Country: Norway

Publications

  1. ncbi request reprint Jervell and Lange-Nielsen syndrome: a Norwegian perspective
    L Tranebjaerg
    Department of Medical Genetics, University Hospital, Tromsø, Norway
    Am J Med Genet 89:137-46. 1999
  2. ncbi request reprint A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
    L Tranebjaerg
    Department of Medical Genetics, University Hospital of Tromsø, Norway
    Eur J Hum Genet 8:464-7. 2000
  3. ncbi request reprint Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene
    L Tranebjaerg
    Department of Medical Genetics, University Hospital of Tromsø, Tromsø, Norway
    Ophthalmic Genet 22:207-23. 2001
  4. ncbi request reprint Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13
    Lisbeth Tranebjaerg
    Department of Audiology, Bispebjerg Hospital, Bispebjerg Bakke 23, DK 2400, Copenhagen NV, Denmark
    Hum Genet 113:293-5. 2003
  5. doi request reprint Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
    Bo Dreyer
    Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, NO 9037 Tromsø, Norway
    Hum Mutat 29:451. 2008
  6. ncbi request reprint A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment
    Nanna D Rendtorff
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genomics, University of Copenhagen, Copenhagen, Denmark
    Eur J Hum Genet 14:1097-105. 2006
  7. ncbi request reprint Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome
    J Travis Hinson
    Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 356:809-19. 2007
  8. ncbi request reprint Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome
    James T Brookes
    Department of Surgery, Division of Pediatric Surgery, University of Calgary, Calgary, Alberta, Canada
    Int J Pediatr Otorhinolaryngol 72:121-6. 2008
  9. ncbi request reprint Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family
    Ann Marie Henriksen
    Willhelm Johansen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen, Denmark
    Genet Test 8:404-6. 2004
  10. ncbi request reprint The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex
    Karin Roesch
    Department of Chemistry and Biochemistry, UCLA, Los Angeles, CA 90095 15691, USA
    Hum Mol Genet 13:2101-11. 2004

Collaborators

  • Andrew Collins
  • Lars Hansen
  • Oivind Nilssen
  • Thomas Rosenberg
  • Maria Bitner-Glindzicz
  • H Eiberg
  • Klaus W Kjaer
  • Merete Bugge
  • J M Hertz
  • Tarja Joensuu
  • B C Hamel
  • G Richard
  • SAUMIL MERCHANT
  • William Tapper
  • James Lespinasse
  • Zeynep Tumer
  • Richard J Smith
  • Ibrahim Mahjneh
  • Mehdi Sadeghi
  • Nanna D Rendtorff
  • Anna Kaisa Anttonen
  • Karin Roesch
  • Bo Dreyer
  • James T Brookes
  • Kirsten M Sanggaard
  • Hanne Jensen
  • Kirsten Marie Sanggaard
  • Jennifer S Bennetts
  • J Travis Hinson
  • Outi Kopra
  • Nanna Dahl Rendtorff
  • Anna Elina Lehesjoki
  • Karen H Friderici
  • Mette Warburg
  • Keith E Bryan
  • Mei Zhu
  • Ann Marie Henriksen
  • Carla M Koehler
  • Juha Paloneva
  • Michael J McKenna
  • Jun Goto
  • André M Sadeghi
  • Hiroyuki Meguro
  • Katrin Hoffman
  • Gudrun Nurnberg
  • Adam B Kanis
  • Peter Nurnberg
  • Lih Yeen Tan
  • Claes Moller
  • Emilia K Bijlsma
  • Eija Siintola
  • Yaeko Ichikawa
  • Nobue K Iwata
  • Charlotte Sørum
  • Abram Vore
  • Vigdis Brox
  • Carol Wicking
  • Fiona Simpson
  • Christine E Seidman
  • Jørgen Dyrmose
  • Pankaj Sharma
  • Roland D Eavey
  • Ivan Keogh
  • Barbara McDonough
  • Noralv Breivik
  • J G Seidman
  • Bruce H Cohen
  • Alfonso Esparza
  • Yamileth Nicolau
  • Edgar Selvaag
  • Jost Schönberger
  • Torsten Johnsen
  • Kristian Otto Nielsen
  • Kasper Lage
  • Ricardo Godinho
  • Geir Siem
  • Steen Gimsing
  • Charles L Hoppel
  • Valeria R Fantin
  • Felipe Santos
  • Bjørn Russell
  • Elizabeth M Gillanders
  • Takasi Kobayashi
  • Jeffrey M Trent
  • Karen Brøndum-Nielsen
  • Hans Pedersen
  • Tanya M Teslovich
  • Dietrich A Stephan
  • Marypat Jones
  • Michael Feldkamp

Detail Information

Publications23

  1. ncbi request reprint Jervell and Lange-Nielsen syndrome: a Norwegian perspective
    L Tranebjaerg
    Department of Medical Genetics, University Hospital, Tromsø, Norway
    Am J Med Genet 89:137-46. 1999
    ..Am. J. Med. Genet. (Semin. Med. Genet.) 89:137-146, 1999...
  2. ncbi request reprint A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
    L Tranebjaerg
    Department of Medical Genetics, University Hospital of Tromsø, Norway
    Eur J Hum Genet 8:464-7. 2000
    ....
  3. ncbi request reprint Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene
    L Tranebjaerg
    Department of Medical Genetics, University Hospital of Tromsø, Tromsø, Norway
    Ophthalmic Genet 22:207-23. 2001
    ....
  4. ncbi request reprint Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13
    Lisbeth Tranebjaerg
    Department of Audiology, Bispebjerg Hospital, Bispebjerg Bakke 23, DK 2400, Copenhagen NV, Denmark
    Hum Genet 113:293-5. 2003
    ..Here, we report homozygosity mapping of a novel locus to a 19.5-cM region on chromosome 20q11-q13 in a large inbred Norwegian family with infantile non-progressive ataxia...
  5. doi request reprint Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II
    Bo Dreyer
    Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, NO 9037 Tromsø, Norway
    Hum Mutat 29:451. 2008
    ..2%) families the USH phenotype could be explained by mutations in the USH3A gene. The results presented here provide a comprehensive picture of the genetic aetiology of Usher syndrome type IIA in Scandinavia as it is known to date...
  6. ncbi request reprint A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment
    Nanna D Rendtorff
    Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genomics, University of Copenhagen, Copenhagen, Denmark
    Eur J Hum Genet 14:1097-105. 2006
    ..Finally, the present results do not indicate that mutations in ACTG1 are a frequent cause of autosomal-dominant postlingual sensorineural hearing impairment in Norway nor Denmark...
  7. ncbi request reprint Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome
    J Travis Hinson
    Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 356:809-19. 2007
    ..The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36...
  8. ncbi request reprint Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome
    James T Brookes
    Department of Surgery, Division of Pediatric Surgery, University of Calgary, Calgary, Alberta, Canada
    Int J Pediatr Otorhinolaryngol 72:121-6. 2008
    ..Further investigation is required to determine the efficacy of cochlear implantation in this patient population. DDON syndrome should be considered in patients with X-linked agammaglobulinemia and hearing loss...
  9. ncbi request reprint Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family
    Ann Marie Henriksen
    Willhelm Johansen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen, Denmark
    Genet Test 8:404-6. 2004
    ..We conclude that this mutation is causing BOR in the family, most likely as a result of haploinsufficiency or an abnormal protein product caused by aberrant splicing of EYA1 mRNA...
  10. ncbi request reprint The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex
    Karin Roesch
    Department of Chemistry and Biochemistry, UCLA, Los Angeles, CA 90095 15691, USA
    Hum Mol Genet 13:2101-11. 2004
    ..Thus, insufficient NADH shuttling, linked with changes in Ca2+ concentration, in sensitive cells of the central nervous system might contribute to the pathologic process associated with MTS...
  11. doi request reprint Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome
    Anna Kaisa Anttonen
    Folkhälsan Institute of Genetics and Neuroscience Center, Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 16:961-9. 2008
    ..These data imply that aggregation of mutant proteins may contribute to MSS pathogenesis. The genetic background of a subgroup of patients with MSS remains uncovered...
  12. ncbi request reprint Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
    Karin Roesch
    Department of Chemistry and Biochemistry and the Molecular Biology Institute, University of California, Los Angeles, CA 90095 1569, USA
    Hum Mol Genet 11:477-86. 2002
    ..In a similar manner to Tim8p, TIMM8a seemingly mediates the import of hTim23. Deafness/dystonia syndrome thus may be caused by decreased levels of Tim23 in the mitochondrial inner membrane in affected tissues...
  13. ncbi request reprint Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses
    Kirsten Marie Sanggaard
    Wilhelm Johannsen Centre for Functional Genome Research, Section of Genetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Eur J Hum Genet 15:1121-31. 2007
    ..Unidentified mutations impairing mRNA expression or further genetic heterogeneity may explain the lack of mutation finding in one family despite LOD score indications of EYA1 involvement...
  14. ncbi request reprint Non-disjunction of chromosome 13
    Merete Bugge
    Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
    Hum Mol Genet 16:2004-10. 2007
    ..This study supports the evidence for subtle chromosome-specific influences on the mechanisms that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies...
  15. ncbi request reprint The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13
    Jennifer S Bennetts
    Institute for Molecular Bioscience, The University of Queensland, Australia
    Dev Dyn 236:843-52. 2007
    ..Our failure to detect causative mutations suggests that alterations in the coding region of TP53INP2 are not responsible for ataxia in this family, although we cannot rule out changes in non-coding elements of this gene...
  16. ncbi request reprint Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?
    Mette Warburg
    Department of Pediatric Ophthalmology and Handicap, Copenhagen University Hospital, Glostrup, Denmark
    Am J Med Genet A 140:2709-13. 2006
    ....
  17. ncbi request reprint Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function
    Keith E Bryan
    Department of Biochemistry, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    J Biol Chem 281:20129-39. 2006
    ..Our results suggest that a major factor in the deafness caused by these mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize...
  18. ncbi request reprint The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
    Anna Kaisa Anttonen
    Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, PO Box 63, FI 00014 Helsinki, Finland
    Nat Genet 37:1309-11. 2005
    ..These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjögren syndrome...
  19. ncbi request reprint Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified
    Lars Hansen
    The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen N, Denmark
    Eur J Hum Genet 13:1275-84. 2005
    ..In contrast, diabetes insipidus was present in two subjects only. Various degrees and types of hearing impairment were diagnosed in six individuals and cataract was observed in five subjects...
  20. ncbi request reprint Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation
    Mehdi Sadeghi
    The Sahlgrenska Academy, Institute of Selected Clinical Sciences, Dept of Audiology, Box 452, SE 405 30 Gothenburg, Sweden
    Int J Audiol 44:307-16. 2005
    ..Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or IIA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome...
  21. ncbi request reprint Deoxyribonucleic acid contamination in archival human temporal bones: a potentially significant problem
    Michael J McKenna
    Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts, USA
    Otol Neurotol 23:789-92. 2002
    ..Contamination of archival human temporal bones with extraneous deoxyribonucleic acid may represent a potentially significant problem in the analysis of nucleic acids isolated from archival specimens...
  22. pmc Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype
    Juha Paloneva
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Am J Hum Genet 71:656-62. 2002
    ....
  23. doi request reprint A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
    Kirsten M Sanggaard
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Am J Med Genet A 146:1017-25. 2008
    ..No other system was involved indicating nonsyndromic loss. In conclusion, a novel nonsense MYO6 mutation causes post-lingual, slowly progressive autosomal dominant nonsyndromic moderate to severe hearing loss in a Danish family...