K Huoponen

Summary

Affiliation: University of Turku
Country: Finland

Publications

  1. ncbi request reprint Leber hereditary optic neuropathy: clinical and molecular genetic findings
    K Huoponen
    University of Turku, Department of Medical Genetics, Finland
    Neurogenetics 3:119-25. 2001
  2. ncbi request reprint [From East or West? The genetic roots of Finns]
    Kirsi Huoponen
    Turun yliopiston biolääketieteen laitos, Lääketieteellinen genetiikka, Turku
    Duodecim 122:63-8. 2006
  3. ncbi request reprint Genetic counseling in Leber hereditary optic neuropathy (LHON)
    Kirsi Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Acta Ophthalmol Scand 80:38-43. 2002
  4. pmc A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
    K Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Am J Hum Genet 48:1147-53. 1991
  5. ncbi request reprint The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
    K Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Hum Genet 92:379-84. 1993
  6. ncbi request reprint Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy
    K Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Genomics 8:583-5. 1990
  7. ncbi request reprint Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing
    V Juvonen
    University of Turku, Department of Medical Genetics, Finland
    Hum Genet 93:16-20. 1994
  8. ncbi request reprint Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy
    K Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Hum Mutat 3:29-36. 1994
  9. ncbi request reprint Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
    E K Nikoskelainen
    Department of Ophthalmology, University of Turku, Finland
    Ophthalmology 103:504-14. 1996
  10. ncbi request reprint Pre-excitation syndrome in Leber's hereditary optic neuropathy
    E K Nikoskelainen
    Department of Ophthalmology, University of Turku, Finland
    Lancet 344:857-8. 1994

Collaborators

Detail Information

Publications37

  1. ncbi request reprint Leber hereditary optic neuropathy: clinical and molecular genetic findings
    K Huoponen
    University of Turku, Department of Medical Genetics, Finland
    Neurogenetics 3:119-25. 2001
    ..There are additional genetic and/or environmental precipitating factors, but thus far they are unknown...
  2. ncbi request reprint [From East or West? The genetic roots of Finns]
    Kirsi Huoponen
    Turun yliopiston biolääketieteen laitos, Lääketieteellinen genetiikka, Turku
    Duodecim 122:63-8. 2006
  3. ncbi request reprint Genetic counseling in Leber hereditary optic neuropathy (LHON)
    Kirsi Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Acta Ophthalmol Scand 80:38-43. 2002
    ..To demonstrate the importance of mitochondrial DNA (mtDNA) analysis in the diagnosis of Leber hereditary optic neuropathy (LHON) and illustrate the difficulties in genetic counseling of the disease...
  4. pmc A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
    K Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Am J Hum Genet 48:1147-53. 1991
    ..None of the families with the nt 3460 mutation in ND1 had the previously reported nt 11778 mutation in the ND4 gene. The G-to-A change at nt 3460 is the second mutation so far detected in LHON...
  5. ncbi request reprint The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
    K Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Hum Genet 92:379-84. 1993
    ..Similarly, complex IV mutation COI/7444 was screened in Finnish LHON families, and it was found in one family carrying the ND1/3460 mutation...
  6. ncbi request reprint Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy
    K Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Genomics 8:583-5. 1990
    ..The sequence of ND4 gene as found to be highly homogeneous...
  7. ncbi request reprint Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing
    V Juvonen
    University of Turku, Department of Medical Genetics, Finland
    Hum Genet 93:16-20. 1994
    ..The method was highly sensitive, heteroplasmy as low as 1.5% being easily detected. Rapid, reproducible, and accurate results prove solid-phase minisequencing to be the method of choice for quantitative analysis of LHON mutations...
  8. ncbi request reprint Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy
    K Huoponen
    Department of Medical Genetics, University of Turku, Finland
    Hum Mutat 3:29-36. 1994
    ..The assay allowed the detection of heteroplasmy ranging from 5 to 95%. This was also shown in a family with several heteroplasmic members...
  9. ncbi request reprint Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
    E K Nikoskelainen
    Department of Ophthalmology, University of Turku, Finland
    Ophthalmology 103:504-14. 1996
    ..The current study suggests that the ophthalmologic findings and outcome in LHON are independent of secondary mutations...
  10. ncbi request reprint Pre-excitation syndrome in Leber's hereditary optic neuropathy
    E K Nikoskelainen
    Department of Ophthalmology, University of Turku, Finland
    Lancet 344:857-8. 1994
    ..In paternal relatives, the frequency was 1.6%. Mitochondrial DNA causal for LHON may contribute to pre-excitation syndrome...
  11. pmc Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy
    E K Nikoskelainen
    Department of Ophthalmology, University of Turku, Finland
    J Neurol Neurosurg Psychiatry 59:160-4. 1995
    ..It is suggested that various movement disorders, multiple sclerosis-like illness, and deformities of the vertebral column may associate pathogenetically with LHON...
  12. ncbi request reprint Tandem repeats and length variation in the mitochondrial DNA control region of Epirrita autumnata (Lepidoptera: Geometridae)
    N Snäll
    Department of Biology, University of Turku, Finland
    Genome 45:855-61. 2002
    ..Like other lepidopteran CRs, the E. autumnata CR contains two long homopolymer runs that may be involved in mtDNA replication and (or) transcription...
  13. ncbi request reprint Nutrient intake in lysinuric protein intolerance
    L M Tanner
    Department of Pediatrics, University of Turku, Kiinamyllynkatu 4 8, 20520, Turku, Finland
    J Inherit Metab Dis 30:716-21. 2007
    ..Their diet is highly deficient in calcium, vitamin D, iron and zinc. Individualized nutritional supplementation accompanied by regular monitoring of dietary intake is therefore an essential part of the treatment of LPI...
  14. ncbi request reprint Mitochondrial DNA variation in an aboriginal Australian population: evidence for genetic isolation and regional differentiation
    K Huoponen
    Laboratory of Genetics, Department of Biology, University of Turku, Turku, Finland
    Hum Immunol 62:954-69. 2001
    ..Overall, the mt-DNA data corroborate the genetic uniqueness of Aboriginal Australian populations...
  15. ncbi request reprint Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)
    J Mykkänen
    Department of Medical Genetics, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, FIN 20520 Turku, Finland
    Hum Mol Genet 9:431-8. 2000
    ..This finding, together with the strong degree of conservation among all members of this family of amino acid transporters, indicates that residues L334 and G54 play a crucial role in the function of the y(+)LAT-1 transporter...
  16. ncbi request reprint Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance
    Laura M Tanner
    Department of Pediatrics, University of Turku, Turku, Finland
    J Pediatr 150:631-4, 634.e1. 2007
    ..To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein intolerance (LPI) and to describe the course and outcome of end-stage renal disease in 4 patients...
  17. ncbi request reprint Heterodimerization of y(+)LAT-1 and 4F2hc visualized by acceptor photobleaching FRET microscopy
    Maaria Kleemola
    Department of Medical Genetics, University of Turku, Turku, Finland Turku Centre for Biotechnology, University of Turku, BioCity, Turku, Finland
    Biochim Biophys Acta 1768:2345-54. 2007
    ..Therefore, our data prove the interaction of y(+)LAT-1 and 4F2hc prior to the plasma membrane and thus provide evidence for 4F2hc functioning as a chaperone in assisting the transport of y(+)LAT-1 to the plasma membrane...
  18. ncbi request reprint Long-term oral lysine supplementation in lysinuric protein intolerance
    Laura M Tanner
    Department of Pediatrics, University of Turku, 20520 Turku, Finland
    Metabolism 56:185-9. 2007
    ..In conclusion, low-dose oral lysine supplementation is potentially beneficial to patients with LPI and can be started safely at an early age...
  19. ncbi request reprint Hazards associated with pregnancies and deliveries in lysinuric protein intolerance
    Laura Tanner
    Department of Pediatrics, University of Turku, 20520 Turku, Finland
    Metabolism 55:224-31. 2006
    ..We propose centralization of deliveries to obstetric units with capability to deal with bleeding complications and rare inborn errors of metabolism...
  20. ncbi request reprint Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7
    Kirsi Puomila
    Department of Medical Genetics, Institute of Biomedicine, University of Turku, Turku, Finland
    Mol Genet Metab 90:298-306. 2007
    ..This newly found downstream promoter in front of exon 2 seems to be active in tissues with strong defects in the function of the transporter in patients with LPI...
  21. ncbi request reprint [Congenital insensitivity to pain, anhidrosis and premature loss of baby teeth as a symptoms of rare neuropathy]
    Minna Ahmed
    Turun yliopisto, bioläaketieteen laitos, Lääketieteellinen genetiikka, Turku
    Duodecim 121:1429-32. 2005
  22. ncbi request reprint Dominant optic atrophy: correlation between clinical and molecular genetic studies
    Anu Puomila
    Department of Medical Genetics, University of Turku, Turku, Finland
    Acta Ophthalmol Scand 83:337-46. 2005
    ..To assess the clinical picture and molecular genetics of 14 Finnish families with dominant optic atrophy (DOA)...
  23. ncbi request reprint Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1)
    Juha Mykkänen
    Department of Medical Genetics, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, FIN 20520, Turku, Finland
    Biochem Biophys Res Commun 301:855-61. 2003
    ..Northern blot analysis showed low and equal SLC7A7 mRNA levels in the control and LPI patient fibroblastoid and lymphoblast cells...
  24. ncbi request reprint Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families
    Anu Puomila
    Department of Medical Genetics, University of Turku, Kiinamyllynkatu 10, FIN 20520 Turku, Finland
    J Neurol Sci 205:41-5. 2002
    ..In this respect, LHON mutations seem to behave like neutral polymorphisms...
  25. doi request reprint Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance
    Laura M Tanner
    Department of Pediatrics, University of Turku, 20520 Turku, Finland
    Metabolism 57:549-54. 2008
    ..Furthermore, decreased ratio of free and total serum carnitine was common even in LPI patients with normal total serum carnitine concentration...
  26. ncbi request reprint Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells
    Minna Toivonen
    Department of Medical Genetics, University of Turku, Kiinamyllynkatu 10, FIN 20520 Turku, Finland
    Biochem Biophys Res Commun 291:1173-9. 2002
    ....
  27. ncbi request reprint Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland
    Anu Puomila
    Department of Medical Genetics, University of Turku, Turku, Finland
    Eur J Hum Genet 15:1079-89. 2007
    ..The prevalence of LHON in Finland is 1:50 000, and one in 9000 Finns is a carrier of one of the three LHON primary mutations...
  28. ncbi request reprint mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy
    T Lamminen
    Department of Medical Genetics, University of Turku, Finland
    Eur J Hum Genet 5:271-9. 1997
    ..However, the frequency of ND4/11778-positive families in haplogroup J was high, which may indicate that background mutations in this haplogroup together with the ND4/11778 primary mutation promote the penetrance of LHON...
  29. ncbi request reprint Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
    Pia Vuorela
    Department of Medical Genetics, University of Turku, Turku, Finland
    Genet Med 9:690-4. 2007
    ..Here, we describe the outcome of a molecular genetic analysis in 18 Finnish and 56 German patients referred for molecular confirmation of the clinical diagnosis of suspected CHARGE syndrome...
  30. ncbi request reprint Genomic analysis of the 55 kDa subunit of DNA polymerase epsilon in human intracranial neoplasms
    Qi Zhou
    Department of Pathology, University of Turku, FIN 20520 Turku, Finland
    Cancer Genomics Proteomics 7:143-6. 2010
    ..Defects of some DNA polymerases have shown cancer associations, but there are only limited data on DNA polymerase (Pol) epsilon...
  31. ncbi request reprint A rare mitochondrial DNA haplotype observed in Koreans
    Niina Snäll
    Department of Biology, University of Turku, Finland
    Hum Biol 74:253-62. 2002
    ..The observed rare haplotype was also found among Japanese, which suggests that it is one of the ancestral lineages originally peopling Japan...
  32. pmc Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
    Gavin Hudson
    Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
    Am J Hum Genet 77:1086-91. 2005
    ..This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder...
  33. ncbi request reprint First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis
    Loreta Cimbalistiene
    Department of Human and Medical Genetics, Vilnius University, Vilnius, Santariskiu 2, Lithuania
    J Appl Genet 48:277-80. 2007
    ..Citrullinaemia was suspected. Subsequently the diagnosis of LPI was made on the basis of biochemical and clinical features. Molecular genetic testing revealed a mutation in the SLC7A7 gene, confirming the diagnosis...
  34. ncbi request reprint Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
    Tuula Rinne
    1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 14:904-10. 2006
    ..In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation...
  35. ncbi request reprint Regional differences among the Finns: a Y-chromosomal perspective
    Tuuli Lappalainen
    Finnish Genome Center, University of Helsinki, Finland
    Gene 376:207-15. 2006
    ..Early assumptions of the homogeneity of the isolated Finnish population have now proven to be false, which may also have implications for future association studies...
  36. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    ..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...
  37. ncbi request reprint Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups
    Elena B Starikovskaya
    Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, Novosibirsk 630090, Russia Federation
    Ann Hum Genet 69:67-89. 2005
    ....