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Species | K HuoponenSummaryAffiliation: University of Turku Country: Finland Publications
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Publications
Leber hereditary optic neuropathy: clinical and molecular genetic findingsK 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...- [From East or West? The genetic roots of Finns]Kirsi Huoponen
Turun yliopiston biolääketieteen laitos, Lääketieteellinen genetiikka, Turku
Duodecim 122:63-8. 2006 - 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... 
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathyK 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...- The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathyK 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... - Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathyK 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... - Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencingV 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... - Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathyK 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... - Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutationsE 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... - Pre-excitation syndrome in Leber's hereditary optic neuropathyE 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... - Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathyE 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... - 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... - Nutrient intake in lysinuric protein intoleranceL 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... - Mitochondrial DNA variation in an aboriginal Australian population: evidence for genetic isolation and regional differentiationK 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... - 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... - Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intoleranceLaura 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... - Heterodimerization of y(+)LAT-1 and 4F2hc visualized by acceptor photobleaching FRET microscopyMaaria 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... - Long-term oral lysine supplementation in lysinuric protein intoleranceLaura 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... - Hazards associated with pregnancies and deliveries in lysinuric protein intoleranceLaura 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... - Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7Kirsi 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... - [Congenital insensitivity to pain, anhidrosis and premature loss of baby teeth as a symptoms of rare neuropathy]Minna Ahmed
Turun yliopisto, , , Turku
Duodecim 121:1429-32. 2005 - Dominant optic atrophy: correlation between clinical and molecular genetic studiesAnu 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)... - 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... - Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON familiesAnu 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... 
Carnitine deficiency and L-carnitine supplementation in lysinuric protein intoleranceLaura 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...- Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cellsMinna Toivonen
Department of Medical Genetics, University of Turku, Kiinamyllynkatu 10, FIN 20520 Turku, Finland
Biochem Biophys Res Commun 291:1173-9. 2002.... - Epidemiology and penetrance of Leber hereditary optic neuropathy in FinlandAnu 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... - mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathyT 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... - Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletionsPia 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... - Genomic analysis of the 55 kDa subunit of DNA polymerase epsilon in human intracranial neoplasmsQi 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... - A rare mitochondrial DNA haplotype observed in KoreansNiina 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... - Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderGavin 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... - First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysisLoreta 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... - Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 geneTuula 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... - Regional differences among the Finns: a Y-chromosomal perspectiveTuuli 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... - Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin 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... - Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroupsElena 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....