Search Results - "Huoponen, Kirsi"

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland by PUOMILA, Anu, HÄMÄLÄINEN, Petra, KIVIOJA, Sanna, SAVONTAUS, Marja-Liisa, KOIVUMÄKI, Satu, HUOPONEN, Kirsi, NIKOSKELAINEN, Eeva

“…We have performed an entire-population-based survey of the epidemiology and penetrance of Leber hereditary optic neuropathy (LHON) in Finland - a country that…”
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Classification of European mtDNAs From an Analysis of Three European Populations by Torroni, A, Huoponen, K, Francalacci, P, Petrozzi, M, Morelli, L, Scozzari, R, Obinu, D, Savontaus, M. L, Wallace, D. C

“…Mitochondrial DNA (mtDNA) sequence variation was examined in Finns, Swedes and Tuscans by PCR amplification and restriction analysis. About 99% of the mtDNAs…”
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Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups by Starikovskaya, Elena B., Sukernik, Rem I., Derbeneva, Olga A., Volodko, Natalia V., Ruiz‐Pesini, Eduardo, Torroni, Antonio, Brown, Michael D., Lott, Marie T., Hosseini, Seyed H., Huoponen, Kirsi, Wallace, Douglas C.

“…Summary In search of the ancestors of Native American mitochondrial DNA (mtDNA) haplogroups, we analyzed the mtDNA of 531 individuals from nine indigenous…”
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Identification of SLC7A7 , encoding y + LAT-1, as the lysinuric protein intolerance gene by Estévez, Raúl, Aula, Pertti, Pineda, Marta, Savontaus, Marja-Liisa, Zorzano, Antonio, Mykkänen, Juha, Reinikainen, Arja, Simell, Olli, Torrents, David, Feliubadaló, Lidia, Sanjurjo, Pablo, Huoponen, Kirsi, Palacín, Manuel, Cid, Rafael de, Nunes, Virginia

“…Lysinuric protein intolerance (LPI; OMIM 222700) is a rare, recessive disorder with a worldwide distribution, but with a high prevalence in the Finnish…”
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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions by Vuorela, Pia, Ala-Mello, Sirpa, Saloranta, Carola, Penttinen, Maila, Pöyhönen, Minna, Huoponen, Kirsi, Borozdin, Wiktor, Bausch, Birke, Botzenhart, Elke M, Wilhelm, Christian, Kääriäinen, Helena, Kohlhase, Jürgen

“…Autosomal dominant CHARGE syndrome (OMIM no. 214800) is characterized by choanal atresia or cleft lip or palate, ocular colobomas, cardiovascular…”
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Nephropathy Advancing to End-Stage Renal Disease: A Novel Complication of Lysinuric Protein Intolerance by Tanner, Laura M., MD, Näntö-Salonen, Kirsti, MD, PhD, Niinikoski, Harri, MD, PhD, Jahnukainen, Timo, MD, PhD, Keskinen, Päivi, MD, PhD, Saha, Heikki, MD, PhD, Kananen, Kristiina, MD, PhD, Helanterä, Antero, MD, Metso, Martti, MD, Linnanvuo, Marjatta, MD, Huoponen, Kirsi, PhD, Simell, Olli, MD, PhD

“…Objective To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein intolerance (LPI) and to describe…”
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mtDNA Haplogroups and Frequency Patterns in Europe by Torroni, Antonio, Richards, Martin, Macaulay, Vincent, Forster, Peter, Villems, Richard, Nørby, Søren, Savontaus, Marja-Liisa, Huoponen, Kirsi, Scozzari, Rosaria, Bandelt, Hans-Jürgen

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A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features by Vuorela, Pia E., Penttinen, Maila T., Hietala, Marja H., Laine, Jukka O., Huoponen, Kirsi A., Kääriäinen, Helena A.

“…The autosomal dominant CHARGE syndrome (MIM ♯214800) is caused by mutations in the CHD7 gene. It is usually sporadic but a few cases with gonadal mosaicism and…”
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Dispersal of females and differentiation between populations of Epirrita autumnata (Lepidoptera: Geometridae) inferred from variation in mitochondrial DNA by Niina SNÄLL, Kirsi HUOPONEN, Irma SALONIEMI, Marja-Liisa SAVONTAUS, Kai RUOHOMÄKI

“…Analysis of the mitochondrial DNA (mtDNA) control region (CR) was used to examine the dispersal of females of a geometrid moth, Epirrita autumnata, in…”
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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background by Hudson, Gavin, Carelli, Valerio, Spruijt, Liesbeth, Gerards, Mike, Mowbray, Catherine, Achilli, Alessandro, Pyle, Angela, Elson, Joanna, Howell, Neil, La Morgia, Chiara, Valentino, Maria Lucia, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Sadun, Alfredo A., Salomao, Solange R., Belfort, Rubens, Griffiths, Philip, Man, Patrick Yu Wai, de Coo, Rene F.M., Horvath, Rita, Zeviani, Massimo, Smeets, Hubert J.T., Torroni, Antonio, Chinnery, Patrick F.

“…Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance…”
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Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder by Hudson, Gavin, Keers, Sharon, Man, Patrick Yu Wai, Griffiths, Philip, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Zeviani, Massimo, Carrara, Franco, Horvath, Rita, Karcagi, Veronika, Spruijt, Liesbeth, de Coo, I.F.M., Smeets, Hubert J.M., Chinnery, Patrick F.

“…Mitochondrial DNA (mtDNA) mutations are a major cause of human disease. A large number of different molecular defects ultimately compromise oxidative…”
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Phylogenetic relationships of the tribe Operophterini (Lepidoptera, Geometridae): a case study of the evolution of female flightlessness by SNÄLL, NIINA, TAMMARU, TOOMAS, WAHLBERG, NIKLAS, VIIDALEPP, JAAN, RUOHOMÄKI, KAI, SAVONTAUS, MARJA-LIISA, HUOPONEN, KIRSI

“…A molecular phylogenetic analysis was conducted in order to reconstruct the evolution of female flightlessness in the geometrid tribe Operophterini…”
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Regional differences among the Finns: A Y-chromosomal perspective by Lappalainen, Tuuli, Koivumäki, Satu, Salmela, Elina, Huoponen, Kirsi, Sistonen, Pertti, Savontaus, Marja-Liisa, Lahermo, Päivi

“…Twenty-two Y-chromosomal markers, consisting of fourteen biallelic markers (YAP/DYS287, M170, M253, P37, M223, 12f2, M9, P43, Tat, 92R7, P36, SRY-1532, M17,…”
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Leber hereditary optic neuropathy : clinical and molecular genetic findings by HUOPONEN, Kirsi

“…Leber hereditary optic neuropathy (LHON) is a maternally inherited disease characterized by acute or subacute painless central visual loss usually in young…”
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A Signal, from Human mtDNA, of Postglacial Recolonization in Europe by Torroni, Antonio, Bandelt, Hans-Jürgen, Macaulay, Vincent, Richards, Martin, Cruciani, Fulvio, Rengo, Chiara, Martinez-Cabrera, Vicente, Villems, Richard, Kivisild, Toomas, Metspalu, Ene, Parik, Jüri, Tolk, Helle-Viivi, Tambets, Kristiina, Forster, Peter, Karger, Bernd, Francalacci, Paolo, Rudan, Pavao, Janicijevic, Branka, Rickards, Olga, Savontaus, Marja-Liisa, Huoponen, Kirsi, Laitinen, Virpi, Koivumäki, Satu, Sykes, Bryan, Hickey, Eileen, Novelletto, Andrea, Moral, Pedro, Sellitto, Daniele, Coppa, Alfredo, Al-Zaheri, Nadia, Santachiara-Benerecetti, A. Silvana, Semino, Ornella, Scozzari, Rosaria

“…Mitochondrial HVS-I sequences from 10,365 subjects belonging to 56 populations/geographical regions of western Eurasia and northern Africa were first surveyed…”
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Dominant optic atrophy: correlation between clinical and molecular genetic studies by Puomila, Anu, Huoponen, Kirsi, Mäntyjärvi, Maija, Hämäläinen, Petra, Paananen, Reetta, Sankila, Eeva‐Marja, Savontaus, Marja‐Liisa, Somer, Mirja, Nikoskelainen, Eeva

“… Purpose:  To assess the clinical picture and molecular genetics of 14 Finnish families with dominant optic atrophy (DOA). Methods:  The clinical status of…”
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Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7 by Puomila, Kirsi, Simell, Olli, Huoponen, Kirsi, Mykkänen, Juha

“…The human SLC7A7 gene encodes y +L amino acid transporter-1 (y +LAT-1). Mutations in the SLC7A7 coding region cause a rare recessive disorder, lysinuric…”
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mtDNA Variation in the South African Kung and Khwe—and Their Genetic Relationships to Other African Populations by Chen, Yu-Sheng, Olckers, Antonel, Schurr, Theodore G., Kogelnik, Andreas M., Huoponen, Kirsi, Wallace, Douglas C.

“…The mtDNA variation of 74 Khoisan-speaking individuals (Kung and Khwe) from Schmidtsdrift, in the Northern Cape Province of South Africa, was examined by…”
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Long-term oral lysine supplementation in lysinuric protein intolerance by Tanner, Laura M, Näntö-Salonen, Kirsti, Niinikoski, Harri, Huoponen, Kirsi, Simell, Olli

“…Abstract In lysinuric protein intolerance (LPI), defective transport of cationic amino acids at the basolateral membrane of the polar epithelial cells in the…”
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Heterodimerization of y +LAT-1 and 4F2hc visualized by acceptor photobleaching FRET microscopy by Kleemola, Maaria, Toivonen, Minna, Mykkänen, Juha, Simell, Olli, Huoponen, Kirsi, Heiskanen, Kaisa M.

“…y +LAT-1 and 4F2hc are the subunits of a transporter complex for cationic amino acids, located mainly in the basolateral plasma membrane of epithelial cells in…”
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