Search Results - "Moilanen, Jukka S"

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype by Sawyer, Sarah L, Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A, Innes, A Micheil, Boycott, Kym M, Moreau, Lisa A, Moilanen, Jukka S, Greenberg, Roger A

“…Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately connected to breast cancer susceptibility and to the rare developmental…”
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Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis by Jaula, Hanna, Mattila, Lauri, Lappi-Blanco, Elisa, Salonen, Johanna, Vähänikkilä, Hannu, Ahvenjärvi, Lauri, Moilanen, Jukka S, Kuismin, Outi, Harju, Terttu, Kaarteenaho, Riitta

“…In familial pulmonary fibrosis (FPF) at least two biological relatives are affected. Patients with FPF have diverse clinical features. We aimed to characterize…”
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Analysis of functional variants in mitochondrial DNA of Finnish athletes by Kiiskilä, Jukka, Moilanen, Jukka S, Kytövuori, Laura, Niemi, Anna-Kaisa, Majamaa, Kari

“…We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore…”
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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland by Kurki, Mitja I., Saarentaus, Elmo, Pietiläinen, Olli, Gormley, Padhraig, Lal, Dennis, Kerminen, Sini, Torniainen-Holm, Minna, Hämäläinen, Eija, Rahikkala, Elisa, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen–Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Männikkö, Minna, Peltonen, Markku, Havulinna, Aki S., Salomaa, Veikko, Pirinen, Matti, Suvisaari, Jaana, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Daly, Mark J., Palotie, Aarno

“…The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less…”
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Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children by Uusimaa, Johanna, Moilanen, Jukka S., Vainionpää, Leena, Tapanainen, Päivi, Lindholm, Päivi, Nuutinen, Matti, Löppönen, Tuija, Mäki-Torkko, Elina, Rantala, Heikki, Majamaa, Kari

“…Objective We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern…”
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Human Chromosome Y and Haplogroups; introducing YDHS Database by Tiirikka, Timo, Moilanen, Jukka S

“…Background As the high throughput sequencing efforts generate more biological information, scientists from different disciplines are interpreting the…”
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A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects by Niemi, Anna-Kaisa, Moilanen, Jukka S, Tanaka, Masashi, Hervonen, Antti, Hurme, Mikko, Lehtimäki, Terho, Arai, Yasumichi, Hirose, Nobuyoshi, Majamaa, Kari

“…Mitochondrial DNA (mtDNA) coding region polymorphisms, as well as the 150T polymorphism in the noncoding region, have been associated with longevity. We have…”
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Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus by Soini, Heidi K, Moilanen, Jukka S, Finnila, Saara, Majamaa, Kari

“…The genetic background of type 2 diabetes is complex involving contribution by both nuclear and mitochondrial genes. There is an excess of maternal inheritance…”
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WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims by Kytövuori, Laura, Seppänen, Allan, Martikainen, Mika H, Moilanen, Jukka S, Kamppari, Seija, Särkioja, Terttu, Remes, Anne M, Räsänen, Pirkko, Rönnemaa, Tapani, Majamaa, Kari

“…Mutations in the wolframin gene, WFS1, cause Wolfram syndrome, a rare recessive neurodegenerative disorder. The clinical features include early-onset bilateral…”
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Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA by Majamaa, Kari, Kärppä, Mikko, Moilanen, Jukka S

“…BackgroundThe m.3243A>G variant in mitochondrial DNA (mtDNA) is the most common cause of the MELAS (Mitochondrial encephalopathy, lactic acidosis and…”
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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability by Urpa, Lea, Kurki, Mitja I, Rahikkala, Elisa, Hämäläinen, Eija, Salomaa, Veikko, Suvisaari, Jaana, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen-Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Uusimaa, Johanna, Moilanen, Jukka S, Körkkö, Jarmo, Singh, Tarjinder, Kuismin, Outi, Pietiläinen, Olli, Palotie, Aarno, Daly, Mark J

“…Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as…”
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Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities by Oikarainen, Jaakko H, Knuutinen, Oula A, Kangas, Salla M, Rahikkala, Elisa J, Pokka, Tytti M-L, Moilanen, Jukka S, Hinttala, Reetta M, Vieira, Päivi M, Uusimaa, Johanna M, Suo-Palosaari, Maria H

“…To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in…”
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Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland by Knuutinen, Oula A, Oikarainen, Jaakko H, Suo‐Palosaari, Maria H, Kangas, Salla M, Rahikkala, Elisa J, Pokka, Tytti M‐L, Moilanen, Jukka S, Hinttala, Reetta M L, Vieira, Päivi M, Uusimaa, Johanna M

“…Aim To examine the epidemiological, clinical, and genetic characteristics of paediatric patients with genetic white matter disorders (GWMDs) in Northern…”
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Epidemiology of early-onset Parkinson's disease in Finland by Ylikotila, Pauli, Tiirikka, Timo, Moilanen, Jukka S, Kääriäinen, Helena, Marttila, Reijo, Majamaa, Kari

“…Abstract Objective The contribution of genetic causes to Parkinson's disease (PD) is strongest in early-onset cases. We ascertained a nationwide cohort of…”
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Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome by Woellner, Cristina, MSc, Gertz, E. Michael, PhD, Schäffer, Alejandro A., PhD, Lagos, Macarena, MD, Perro, Mario, MSc, Glocker, Erik-Oliver, MD, Pietrogrande, Maria C., MD, Cossu, Fausto, MD, Franco, José L., MD, PhD, Matamoros, Nuria, MD, Pietrucha, Barbara, MD, PhD, Heropolitańska-Pliszka, Edyta, MD, Yeganeh, Mehdi, MD, Moin, Mostafa, MD, Español, Teresa, MD, PhD, Ehl, Stephan, MD, Gennery, Andrew R., MD, Abinun, Mario, MD, PhD, Bręborowicz, Anna, MD, Niehues, Tim, MD, Kilic, Sara Sebnem, MD, Junker, Anne, MD, Turvey, Stuart E., MD, PhD, Plebani, Alessandro, MD, Sánchez, Berta, PhD, Garty, Ben-Zion, MD, Pignata, Claudio, MD, Cancrini, Caterina, MD, Litzman, Jiri, MD, Sanal, Özden, MD, Baumann, Ulrich, MD, Bacchetta, Rosa, MD, Hsu, Amy P., BA, Davis, Joie N., CRNP, Hammarström, Lennart, MD, Davies, E. Graham, MD, Eren, Efrem, MD, Arkwright, Peter D., MD, PhD, Moilanen, Jukka S., MD, PhD, Viemann, Dorothee, MD, Khan, Sujoy, MRCP, Maródi, László, MD, Cant, Andrew J., MD, Freeman, Alexandra F., MD, Puck, Jennifer M., MD, Holland, Steven M., MD, Grimbacher, Bodo, MD

“…Background The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of…”
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Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1 by Ylikallio, Emil, Johari, Mridul, Konovalova, Svetlana, Moilanen, Jukka S, Kiuru-Enari, Sari, Auranen, Mari, Pajunen, Leila, Tyynismaa, Henna

“…Charcot-Marie-Tooth disease (CMT) is a group of hereditary peripheral neuropathies. The dominantly inherited axonal CMT2 displays striking genetic…”
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Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction by Vieira, Päivi, Cameron, Jessie, Rahikkala, Elisa, Keski-Filppula, Riikka, Zhang, Lin-Hua, Santra, Saikat, Matthews, Allison, Myllynen, Päivi, Nuutinen, Matti, Moilanen, Jukka S., Rodenburg, Richard J., Rolfs, Arndt, Uusimaa, Johanna, van Karnebeek, Clara D.M.

“…Clinical and laboratory data were collected from three Finnish patients including a sibling pair and another unrelated child with unexplained childhood…”
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The co‐occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific by Raule, Nicola, Sevini, Federica, Li, Shengting, Barbieri, Annalaura, Tallaro, Federica, Lomartire, Laura, Vianello, Dario, Montesanto, Alberto, Moilanen, Jukka S., Bezrukov, Vladyslav, Blanché, Hélène, Hervonen, Antti, Christensen, Kaare, Deiana, Luca, Gonos, Efstathios S., Kirkwood, Tom B. L., Kristensen, Peter, Leon, Alberta, Pelicci, Pier Giuseppe, Poulain, Michel, Rea, Irene M., Remacle, Josè, Robine, Jean Marie, Schreiber, Stefan, Sikora, Ewa, Eline Slagboom, Peternella, Spazzafumo, Liana, Antonietta Stazi, Maria, Toussaint, Olivier, Vaupel, James W., Rose, Giuseppina, Majamaa, Kari, Perola, Markus, Johnson, Thomas E., Bolund, Lars, Yang, Huanming, Passarino, Giuseppe, Franceschi, Claudio

“…Summary To re‐examine the correlation between mtDNA variability and longevity, we examined mtDNAs from samples obtained from over 2200 ultranonagenarians (and…”
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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT by Coughlin, Curtis R., Swanson, Michael A., Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg, Ana M., Rahikkala, Elisa, Moilanen, Jukka S., Mahieu, Vincent, Matthijs, Gert, Bravo-Alonso, Irene, Pérez-Cerdá, Celia, Ugarte, Magdalena, Vianey-Saban, Christine, Scharer, Gunter H., Van Hove, Johan L.K.

“…The study’s purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH). Genetic results, parental phase, ethnic origin,…”
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Novel variants in Nordic patients referred for genetic testing of telomere-related disorders by Norberg, Anna, Rosén, Anna, Raaschou-Jensen, Klas, Kjeldsen, Lars, Moilanen, Jukka S, Paulsson-Karlsson, Ylva, Baliakas, Panagiotis, Lohi, Olli, Ahmed, Aymen, Kittang, Astrid O, Larsson, Pär, Roos, Göran, Degerman, Sofie, Hultdin, Magnus

“…Telomere-related disorders are a clinically and genetically heterogeneous group of disorders characterized by premature telomere shortening and proliferative…”
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