Zobrazeno 1 - 10 of 43 pro vyhledávání: '"Kirsi Huoponen"'
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Akademický článek
Dispersal of females and differentiation between populations of Epirrita autumnata (Lepidoptera: Geometridae) inferred from variation in mitochondrial DNA
Autor: Niina SNÄLL, Kirsi HUOPONEN, Irma SALONIEMI, Marja-Liisa SAVONTAUS, Kai RUOHOMÄKI
Publikováno v: European Journal of Entomology, Vol 101, Iss 4, Pp 495-502 (2004)
Analysis of the mitochondrial DNA (mtDNA) control region (CR) was used to examine the dispersal of females of a geometrid moth, Epirrita autumnata, in Fennoscandia. A 542-bp-portion of the CR of 200 individuals from four northern and four southern lo
Externí odkaz: https://doaj.org/article/00972dfb8f074c07abc4be5afae5e577
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2
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features
Autor: Marja Hietala, Jukka O. Laine, Kirsi Huoponen, Maila Penttinen, Pia E. Vuorela, Helena Kääriäinen
Publikováno v: Clinical Dysmorphology. 17:249-253
The autosomal dominant CHARGE syndrome (MIM musical sharp214800) is caused by mutations in the CHD7 gene. It is usually sporadic but a few cases with gonadal mosaicism and familial inheritance have been reported. We describe a familial CHARGE syndrom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad5730afeaa07f3cceb974be562fa0b
https://doi.org/10.1097/mcd.0b013e328306a704
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3
Carnitine deficiency and l-carnitine supplementation in lysinuric protein intolerance
Autor: Kirsti Näntö-Salonen, Jaana Venetoklis, Mohamed S. Rashed, Maija Aalto, Harri Niinikoski, Olli Simell, Soile Kotilainen, Laura Tanner, Kirsi Huoponen
Publikováno v: Metabolism. 57:549-554
The aim of the study was to investigate the prevalence and mechanisms of development of carnitine deficiency in patients with lysinuric protein intolerance (LPI). In our cohort of 37 Finnish patients with LPI, 8 (8-52 years of age) have been diagnose
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d71c6405c116867c2080ef1f4c4f19
https://doi.org/10.1016/j.metabol.2007.11.019
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4
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
Autor: Jürgen Kohlhase, Minna Pöyhönen, Helena Kääriäinen, Sirpa Ala-Mello, Christian Wilhelm, Carola Saloranta, Elke M. Botzenhart, Birke Bausch, Kirsi Huoponen, Wiktor Borozdin, Pia E. Vuorela, Maila Penttinen
Publikováno v: Genetics in Medicine. 9:690-694
Purpose: Autosomal dominant CHARGE syndrome (OMIM no. 214800) is characterized by choanal atresia or cleft lip or palate, ocular colobomas, cardiovascular malformations, retardation of growth, ear anomalies, and deafness, and is caused by mutations i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df907e8c24c9dfc7fe2e662cbca57dc5
https://doi.org/10.1097/gim.0b013e318156e68e
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6
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis
Autor: Kirsi Huoponen, Willy Lehnert, Loreta Cimbalistiene, Vaidutis Kučinskas
Publikováno v: Journal of Applied Genetics. 48:277-280
We report on an 18-year-old Lithuanian girl with hepatosplenomegaly noticed at birth, which progressed thereafter. The patient had to wait about 17 years for an accurate diagnosis and appropriate therapy. Lactase deficiency, congenital cataract of th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27a62720f33f30ba2278c54fcac2e1c
https://doi.org/10.1007/bf03195224
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7
Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background
Autor: Patrick Yu Wai Man, Joanna L. Elson, Valerio Carelli, Chiara La Morgia, Gavin Hudson, Maria Lucia Valentino, Patrick F. Chinnery, Liesbeth Spruijt, Kirsi Huoponen, Alessandro Achilli, Neil Howell, Catherine Mowbray, Massimo Zeviani, Angela Pyle, Philip G. Griffiths, Rita Horvath, Eeva Nikoskelainen, Mike Gerards, Marja-Liisa Savontaus, René de Coo, Antonio Torroni, Solange Rios Salomão, Hubert J T Smeets, Rubens Belfort, Alfredo A. Sadun
Publikováno v: American Journal of Human Genetics, 81, 2, pp. 228-33
American Journal of Human Genetics, 81(2), 228-233. Cell Press
American Journal of Human Genetics, 81, 228-33
Contains fulltext : 52562.pdf (Publisher’s version ) (Closed access) Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e91464f563b95f3561c2f7ca6a0ebd
https://doi.org/10.1086/519394
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8
Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland
Autor: Petra Hämäläinen, Kirsi Huoponen, Eeva Nikoskelainen, Sanna Kivioja, Anu Puomila, Satu Koivumäki, Marja-Liisa Savontaus
Publikováno v: European Journal of Human Genetics. 15:1079-1089
We have performed an entire-population-based survey of the epidemiology and penetrance of Leber hereditary optic neuropathy (LHON) in Finland - a country that is among the best-studied genetic isolates in the world. During our long-term clinical foll
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62318f9b06c17c37768c8fb3650bd6fd
https://doi.org/10.1038/sj.ejhg.5201828
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9
Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7
Autor: Olli Simell, Juha Mykkänen, Kirsi Huoponen, Kirsi Puomila
Publikováno v: Molecular Genetics and Metabolism. 90(3):298-306
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 protein intolerance (LPI). LPI is enriched in the Finnish population, where all patients carry
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00da989f9fec14c0ce0f2016ed905c8f
https://doi.org/10.1016/j.ymgme.2006.11.007
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10
Hazards associated with pregnancies and deliveries in lysinuric protein intolerance
Autor: Kirsi Huoponen, Risto Erkkola, Kirsti Näntö-Salonen, Laura Tanner, Olli Simell, Harri Niinikoski
Publikováno v: Metabolism. 55:224-231
Lysinuric protein intolerance (LPI) is an autosomal recessive transport disorder of the dibasic amino acids. The defect leads to deficiency of lysine, arginine, and ornithine and, secondarily, to a functional disorder of the urea cycle. Transient pos
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::103dbdbdee69f27bc0535827a4491da9
https://doi.org/10.1016/j.metabol.2005.08.016
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