Search Results - "SIRONEN, Anu"

Sperm defects in primary ciliary dyskinesia and related causes of male infertility by Sironen, Anu, Shoemark, Amelia, Patel, Mitali, Loebinger, Michael R., Mitchison, Hannah M.

“…The core axoneme structure of both the motile cilium and sperm tail has the same ultrastructural 9 + 2 microtubular arrangement. Thus, it can be expected that…”
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Transcriptome profiling of the murine testis during the first wave of spermatogenesis by Laiho, Asta, Kotaja, Noora, Gyenesei, Attila, Sironen, Anu

“…Correct gene expression patterns form the basis for male germ cell differentiation and male fertility. Although previous studies have elucidated the importance…”
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SPEF2 functions in microtubule-mediated transport in elongating spermatids to ensure proper male germ cell differentiation by Lehti, Mari S, Zhang, Fu-Ping, Kotaja, Noora, Sironen, Anu

“…Sperm differentiation requires specific protein transport for correct sperm tail formation and head shaping. A transient microtubular structure, the manchette,…”
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Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia by Jayasena, Channa N., Sironen, Anu

“…Primary ciliary dyskinesia (PCD), a disease caused by the malfunction of motile cilia, manifests mainly with chronic recurrent respiratory infections. In men,…”
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HYDIN variants cause primary ciliary dyskinesia in the Finnish population by Burgoyne, Thomas, Fassad, Mahmoud R, Schultz, Rüdiger, Elenius, Varpu, Lim, Jacqueline S Y, Freke, Grace, Rai, Ranjit, Mohammed, Mai A, Mitchison, Hannah M, Sironen, Anu I

“…Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by chronic respiratory tract infections and in some cases laterality defects and…”
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CFAP300 mutation causing primary ciliary dyskinesia in Finland by Schultz, Rüdiger, Elenius, Varpu, Fassad, Mahmoud R, Freke, Grace, Rogers, Andrew, Shoemark, Amelia, Koistinen, Tiina, Mohamed, Mai A, Lim, Jacqueline S Y, Mitchison, Hannah M, Sironen, Anu I

“…Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by chronic respiratory tract infections and in some cases laterality defects and…”
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SPEF2 functions in microtubule-mediated transport in elongating spermatids to ensure proper male germ cell differentiation by Lehti, Mari S., Zhang, Fu-Ping, Kotaja, Noora, Sironen, Anu

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A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle by Iso-Touru, Terhi, Wurmser, Christine, Venhoranta, Heli, Hiltpold, Maya, Savolainen, Tujia, Sironen, Anu, Fischer, Konrad, Flisikowski, Krzysztof, Fries, Ruedi, Vicente-Carrillo, Alejandro, Alvarez-Rodriguez, Manuel, Nagy, Szabolcs, Mutikainen, Mervi, Peippo, Jaana, Taponen, Juhani, Sahana, Goutam, Guldbrandtsen, Bernt, Simonen, Henri, Rodriguez-Martinez, Heriberto, Andersson, Magnus, Pausch, Hubert

“…Cattle populations are highly amenable to the genetic mapping of male reproductive traits because longitudinal data on ejaculate quality and dense…”
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Expression of SPEF2 During Mouse Spermatogenesis and Identification of IFT20 as an Interacting Protein by SIRONEN, Anu, HANSEN, Jeanette, THOMSEN, Bo, ANDERSSON, Magnus, VILKKI, Johanna, TOPPARI, Jorma, KOTAJA, Noora

“…SPEF2 is expressed in all ciliated cells and is essential for correct sperm tail development and male fertility. We have previously identified a mutation…”
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Identification of copy number variations and candidate genes for reproduction traits in Finnish pig populations by Iso-Touru, Terhi, Uimari, Pekka, Elo, Kari, Sevon-Aimonen, Marja-Liisa, Sironen, Anu

“…Animal breeding programs can be improved by genetic markers associated with production and reproduction traits.Reproduction traits are important for economic…”
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A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs by Dillard, Kati J, Hytönen, Marjo K, Fischer, Daniel, Tanhuanpää, Kimmo, Lehti, Mari S, Vainio-Siukola, Katri, Sironen, Anu, Anttila, Marjukka

“…Ciliopathies presenting as inherited hepatorenal fibrocystic disorders are rare in humans and in dogs. We describe here a novel lethal ciliopathy in Norwich…”
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An exonic insertion within Tex14 gene causes spermatogenic arrest in pigs by Sironen, Anu, Uimari, Pekka, Venhoranta, Heli, Andersson, Magnus, Vilkki, Johanna

“…Male infertility is an increasing problem in all domestic species including man. Localization and identification of genes involved in defects causing male…”
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The effect of CAPN1 and CAST gene variations on meat quality traits in Finnish Aberdeen Angus and Nordic Red Cattle populations by Iso-Touru, Terhi, Pesonen, Maiju, Fischer, Daniel, Huuskonen, Arto, Sironen, Anu

“…High meat quality and specifically meat tenderness are desired traits by the consumers, however the environmental impact of meat production is becoming a…”
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intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig by Sironen, A, Thomsen, B, Andersson, M, Ahola, V, Vilkki, J

“…The immotile short-tail sperm defect is an autosomal recessive disease within the Finnish Yorkshire pig population. This disease specifically affects the…”
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Whole-genome SNP association analysis of reproduction traits in the Finnish Landrace pig breed by Uimari, Pekka, Sironen, Anu, Sevón-Aimonen, Marja-Liisa

“…Good genetic progress for pig reproduction traits has been achieved using a quantitative genetics-based multi-trait BLUP evaluation system. At present,…”
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Knobbed acrosome defect is associated with a region containing the genes STK17b and HECW2 on porcine chromosome 15 by Sironen, Anu, Uimari, Pekka, Nagy, Szabolcs, Paku, Sándor, Andersson, Magnus, Vilkki, Johanna

“…Male infertility is an increasing problem in all domestic species including man. Localization and identification of genes involved in defects causing male…”
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Formation and function of sperm tail structures in association with sperm motility defects by Lehti, Mari S, Sironen, Anu

“…Male infertility is an increasing problem partly due to inherited genetic variations. Mutations in genes involved in formation of the sperm tail cause motility…”
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Expression of SPEF2 During Mouse Spermatogenesis and Identification of IFT20 as an Interacting Protein1 by Sironen, Anu, Hansen, Jeanette, Thomsen, Bo, Andersson, Magnus, Vilkki, Johanna, Toppari, Jorma, Kotaja, Noora

“…SPEF2 is expressed in all ciliated cells and is essential for correct sperm tail development and male fertility. We have previously identified a mutation…”
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Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia1 by Sironen, Anu, Kotaja, Noora, Mulhern, Howard, Wyatt, Todd A, Sisson, Joseph H, Pavlik, Jacqueline A, Miiluniemi, Mari, Fleming, Mark D, Lee, Lance

“…Primary ciliary dyskinesia (PCD) results from defects in motile cilia function. Mice homozygous for the mutation big giant head (bgh) have several…”
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Mapping of an immotile short tail sperm defect in the Finnish Yorkshire on porcine Chromosome 16 by Sironen, Anu I, Andersson, Magnus, Uimari, Pekka, Vilkki, Johanna

“…An immotile short tail sperm defect has recently been identified as a hereditary disorder present within the Finnish Yorkshire pig population. The syndrome is…”
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