Výsledky vyhledávání - "Raija Miettinen"

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns

Autor: Raija Miettinen, Paula Peltola, Jussi Pihlajamäki, Markku Laakso, Richard Sandford, Anne Lumiaho

Publikováno v: Journal of Molecular Medicine. 83:638-646

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, leading to renal insufficiency and renal transplantation. Mutation screening in the major gene for ADPKD, the polycystic kidney disease type 1 (PKD1) ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18a40797a2aa9c3246fc63cb56daa048
https://doi.org/10.1007/s00109-005-0644-6

Zobrazit plný text záznamu

A novel mutation, Arg71Thr, in the ?-sarcoglycan gene is associated with dilated cardiomyopathy

Autor: Raija Miettinen, Markku S. Nieminen, Johanna Kuusisto, Eeva Reissell, Markku Laakso, Tiina Heliö, Keijo Peuhkurinen, Petri Tuomainen, Lauri Toivonen, Päivi Kärkkäinen, Maija Kaartinen, Satu Kärkkäinen

Publikováno v: Journal of Molecular Medicine. 81:795-800

Approximately 20-35% of cases of idiopathic dilated cardiomyopathy are familial. DCM-associated mutations have been reported in 13 genes including the desmin, delta-sarcoglycan, and metavinculin genes. This study screened for variants in these genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86c15c7048673e63057f437490de73b
https://doi.org/10.1007/s00109-003-0480-5

Zobrazit plný text záznamu

Insulin resistance is related to left ventricular hypertrophy in patients with polycystic kidney disease type 1

Autor: Juha Hartikainen, Lea Niemitukia, Erkki Lampainen, Anne Lumiaho, Risto Ikäheimo, Markku Laakso, Raija Miettinen, Jussi Pihlajamäki

Publikováno v: American Journal of Kidney Diseases. 41:1219-1224

Left ventricular hypertrophy (LVH) is common in patients with autosomal dominant polycystic kidney disease (ADPKD). Although insulin resistance contributes to cardiac hypertrophy, the relationship between insulin resistance and LVH in patients with A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e80bd932dbe700f78c0cfc2baf26c7
https://doi.org/10.1016/s0272-6386(03)00354-8

Zobrazit plný text záznamu

Promoter Polymorphisms −359T/C and −303A/G of the Catalytic Subunit p110β Gene of Human Phosphatidylinositol 3-Kinase Are Not Associated With Insulin Secretion or Insulin Sensitivity in Finnish Subjects

Autor: Markku Laakso, Päivi Kärkkäinen, Seppo Ylä-Herttuala, Jussi Pihlajamäki, Ilkka Vauhkonen, Raija Miettinen, Maija Kossila, Päivi Kekäläinen

Publikováno v: Diabetes Care. 26:179-182

OBJECTIVE—Phosphatidylinositol (PI) 3-kinase activity is required for insulin-stimulated translocation of GLUT4 transporters and glucose uptake and utilization. Therefore, genes encoding the subunits of PI 3-kinase are promising candidate genes for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf7f290578fd00ee57d757f37bec1a44
https://doi.org/10.2337/diacare.26.1.179

Zobrazit plný text záznamu

Progression of Kidney Disease Varies Between Families with Defects in the Polycystic Kidney Disease Type 1 Gene in Eastern Finland

Autor: Risto Ikäheimo, Ritva Vanninen, Raija Miettinen, Lea Niemitukia, Jussi Pihlajamäki, Erkki Lampainen, Markku Laakso, Anne Lumiaho

Publikováno v: Scandinavian Journal of Urology and Nephrology. 37:352-358

To characterize, for the first time, the phenotype and clinical course of autosomal dominant polycystic kidney disease (ADPKD) in Finnish patients.All patients underwent an abdominal sonographic examination and most of those with ADPKD underwent magn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0f8e30bc01ee98d09e947f6d0a4591
https://doi.org/10.1080/00365590310001629

Zobrazit plný text záznamu

Mitral valve prolapse and mitral regurgitation are common in patients with polycystic kidney disease type 1

Autor: Lea Niemitukia, Anne Lumiaho, Raija Miettinen, Erkki Lampainen, Markku Laakso, A. Rantala, Risto Ikäheimo, Tomi Laitinen, Juha Hartikainen

Publikováno v: American Journal of Kidney Diseases. 38:1208-1216

Patients with autosomal dominant polycystic kidney disease (ADPKD) have an increased occurrence of cardiac valve abnormalities. However, the prevalence of cardiac abnormalities in patients with a uniform genotype of ADPKD has not been previously repo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72341a04ad872e51a2c33124e21feba8
https://doi.org/10.1053/ajkd.2001.29216

Zobrazit plný text záznamu

The Pro12Ala substitution in the peroxisome proliferator activated receptor gamma 2 is associated with an insulin-sensitive phenotype in families with familial combined hyperlipidemia and in nondiabetic elderly subjects with dyslipidemia

Autor: Raija Miettinen, Johan Auwerx, Samir S. Deeb, Jussi Pihlajamäki, Leena Mykkänen, Markku Laakso, Johanna Kuusisto, Raisa Valve, Leena Karjalainen

Publikováno v: Atherosclerosis. 151:567-574

Dyslipidemias and insulin resistance often present simultaneously, as in familial combined hyperlipidemia (FCHL), and therefore may have a common genetic background. In our previous study the Pro12A1a substitution of peroxisome proliferator receptor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::38d31b0f89d21f8e612737a4f63182e4
https://doi.org/10.1016/s0021-9150(99)00433-5

Zobrazit plný text záznamu

The Cardiac Troponin I Gene Is Not Associated with Hypertrophic Cardiomyopathy in Patients From Eastern Finland

Autor: Raija Miettinen, Pertti Jääskeläinen, Markku Laakso, Johanna Kuusisto, Ilkka Vauhkonen, Karoliina Silvennoinen

Publikováno v: Journal of Molecular and Cellular Cardiology. 31:2031-2036

Defects in seven genes encoding sarcomere proteins have been shown to cause hypertrophic cardiomyopathy. To date, only one study reporting defects in the cardiac troponin I gene associated with hypertrophic cardiomyopathy has been published, and the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::538c0f43aa34e52ce3cfbab3c608436b
https://doi.org/10.1006/jmcc.1999.1032

Zobrazit plný text záznamu

Two Polymorphisms in the Peroxisome Proliferator-Activated Receptor-γ Gene Are Associated with Severe Overweight among Obese Women*

Autor: Raija Miettinen, K Sivenius, Jussi Pihlajamäki, Raisa Valve, Aila Rissanen, Johan Auwerx, M Uusitupa, Markku Laakso, Samir S. Deeb

Publikováno v: Scopus-Elsevier

Peroxisome proliferator-activated receptor-γ (PPARγ) is a nuclear receptor that regulates adipocyte differentiation. Variations in the PPARγ gene may affect the function of the PPARγ and, therefore, body adipocity. We investigated the frequencies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05f8dac68482a7ce9512d5592355c147
https://doi.org/10.1210/jcem.84.10.6061

Zobrazit plný text záznamu

New Amino Acid Substitutions in the IRS-2 Gene in Finnish and Chinese Subjects With Late-Onset Type 2 Diabetes

Autor: Leena Mykkänen, Päivi Kekäläinen, Raija Miettinen, Johanna Kuusisto, Markku Laakso, Hua Wang, Johanna Rissanen, Pauli Karhapää, Päivi Kärkkäinen

Publikováno v: Diabetes. 50:1949-1951

We investigated the significance of the variants of the IRS-2 gene in patients with type 2 diabetes. The entire coding part of the IRS-2 gene was screened by single-strand conformation polymorphism analysis in 40 Chinese and 40 Finnish patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eda2818434e48f3c795fb574ddd2105
https://doi.org/10.2337/diabetes.50.8.1949

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání