Extensive sampling and thorough taxonomic assessment of Afrotropical Rhyssinae (Hymenoptera, Ichneumonidae) reveals two new species and demonstrates the limitations of previous sampling efforts

Autor: Tapani Hopkins, Heikki Roininen, Simon van Noort, Gavin R. Broad, Kari Kaunisto, Ilari E. Sääksjärvi

Publikováno v: ZooKeys, Vol 878, Iss , Pp 33-71 (2019)

Tropical forest invertebrates, such as the parasitoid wasp family Ichneumonidae, are poorly known. This work reports some of the first results of an extensive survey implemented in Kibale National Park, Uganda. A total of 456 individuals was caught o

Externí odkaz: https://doaj.org/article/c97e5af801e4433592ea5a172e647cb5

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Autor: Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)

Growth retardation is most commonly caused by genetic defects in the growth hormone pathway. Here, in families with growth retardation and gingival fibromatosis, the authors identify mutations in the potassium channel gene KCNQ1 that cause electrophy

Externí odkaz: https://doaj.org/article/b5b12ca766544223adfa800c677fab94

Unveiling of a cryptic Dicranomyia (Idiopyga) from northern Finland using integrative approach (Diptera, Limoniidae)

Autor: Jukka Salmela, Kari Kaunisto, Varpu Vahtera

Publikováno v: Biodiversity Data Journal, Vol 2, Pp 1-27 (2014)

The subgenus Idiopyga Savchenko, 1987 is a northern hemisphere group of short-palped crane flies (Diptera, Limoniidae). In the current article we describe a new species, Dicranomyia (I.) boreobaltica Salmela sp.n., and redescribe the male and female

Externí odkaz: https://doaj.org/article/0501ae79d47f4aa0975f921b2e184e7c

Cytosolic phosphoenolpyruvate carboxykinase deficiency : Expanding the clinical phenotype and novel laboratory findings

Autor: Tuula Arkkola, Matti Nuutinen, Maria K Haanpää, Marja-Leena Väisänen, Päivi J. Miettinen, Katariina Latva, Päivi Myllynen, Riikka Keski-Filppula, Kari Kaunisto, Virpi Sidoroff, Pekka Valmari, Johanna Uusimaa, Elisa Rahikkala, Irina I Nagy, Marja Ojaniemi, Päivi Vieira

Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study 21 children

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20a81f8a7091a7775f554f28b632014
http://hdl.handle.net/10138/353343

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Autor: Filippo Casoni, Paolo Giacobini, Päivi Lahermo, Eeva-Marja Sankila, Johanna Känsäkoski, Marita Lipsanen-Nyman, Emily J Lodge, Riikka Keski-Filppula, Kari Kaunisto, Xiaonan Liu, Jørgen K. Kanters, Kristiina Pulli, Tal Buki, Mitja Lääperi, Johanna Tommiska, Riitta Veijola, Mari A. Kaunisto, Joel A. Hirsch, Lei Yuan, Sirpa Kivirikko, Tapani Ebeling, Patrice Mollard, Franziska Phan-Hug, Lasse Skibsbye, Sanna Vuoristo, Kirsi Vaaralahti, Taneli Raivio, Cynthia L. Andoniadou, Manuel Tena-Sempere, Thomas Jespersen, Nelly Pitteloud, Chuyi Tang, Rainer Fagerholm, Leena Valanne, Markku Varjosalo

Publikováno v: Nature Communications
Tommiska, J, Känsäkoski, J, Skibsbye, L, Vaaralahti, K, Liu, X, Lodge, E J, Tang, C, Yuan, L, Fagerholm, R, Kanters, J K, Lahermo, P, Kaunisto, M, Keski-Filppula, R, Vuoristo, S, Pulli, K, Ebeling, T, Valanne, L, Sankila, E-M, Kivirikko, S, Lääperi, M, Casoni, F, Giacobini, P, Phan-Hug, F, Buki, T, Tena-Sempere, M, Pitteloud, N, Veijola, R, Lipsanen-Nyman, M, Kaunisto, K, Mollard, P, Andoniadou, C L, Hirsch, J A, Varjosalo, M, Jespersen, T & Raivio, T 2017, ' Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis ', Nature Communications, vol. 8, no. 1, 1289 . https://doi.org/10.1038/s41467-017-01429-z
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature communications, vol. 8, no. 1, pp. 1289

Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f65b757cd3eec6b9407f896b92ee41
http://urn.fi/urn:nbn:fi-fe2019081223873