Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity

Autor: Nora Pernaa, Salla Keskitalo, Iftekhar Chowdhury, Antti Nissinen, Virpi Glumoff, Riikka Keski-Filppula, Juhani Junttila, Kari K. Eklund, Wenny Santaniemi, Sanna Siitonen, Mikko RJ. Seppänen, Paula Vähäsalo, Markku Varjosalo, Pirjo Åström, Timo Hautala

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

Krüppel-like factor 2 (KLF2) is a transcription factor with significant roles in development, maturation, differentiation, and proliferation of several cell types. In immune cells, KLF2 regulates maturation and trafficking of lymphocytes and monocyt

Externí odkaz: https://doaj.org/article/f1a59facbd974beea4bc915f2a86fd8f

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Autor: Mitja I. Kurki, Elmo Saarentaus, Olli Pietiläinen, Padhraig Gormley, Dennis Lal, Sini Kerminen, Minna Torniainen-Holm, Eija Hämäläinen, Elisa Rahikkala, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen–Ebrahim, Heli Helander, Päivi Vieira, Minna Männikkö, Markku Peltonen, Aki S. Havulinna, Veikko Salomaa, Matti Pirinen, Jaana Suvisaari, Jukka S. Moilanen, Jarmo Körkkö, Outi Kuismin, Mark J. Daly, Aarno Palotie

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)

Various types of genetic variation contribute to the etiology of intellectual disability (ID). Here, the authors study a cohort of ID patients enriched for mild ID from Finland, to investigate contributions of rare and common variants associated with

Externí odkaz: https://doaj.org/article/ab9e0271d0224acca582195c7d5d71d8

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Autor: Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer

Publikováno v: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143

Genotype; Intellectual disability; Phenotype Genotipo; Discapacidad intelectual; Fenotipo Genotip; Discapacitat intel·lectual; Fenotip We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e786f2ecd8803b730a91f04d46d55226

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic

Autor: Minna, Kraatari-Tiri, Maria K, Haanpää, Tytti, Willberg, Pia, Pohjola, Riikka, Keski-Filppula, Outi, Kuismin, Jukka S, Moilanen, Sanna, Häkli, Elisa, Rahikkala

Publikováno v: Journal of clinical medicine. 11(7)

Sensorineural hearing loss (SNHL) is one of the most common sensory deficits worldwide, and genetic factors contribute to at least 50-60% of the congenital hearing loss cases. The transmembrane channel-like protein 1 (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::698bbbcbb8e6ea2bdeab450608042e38
https://pubmed.ncbi.nlm.nih.gov/35407445

Recessive MYH3 variants cause 'Contractures, pterygia, and variable skeletal fusions syndrome 1B' mimicking Escobar variant multiple pterygium syndrome

Autor: Kristiina Avela, Johanna Lehtonen, Henrikki Almusa, Jukka S. Moilanen, Eveliina Jakkula, Kristiina Aittomäki, Sirpa Kivirikko, Anna H. Hakonen, Janna Saarela, Reetta Kivisaari, Riikka Keski-Filppula

Publikováno v: American journal of medical genetics. Part AREFERENCES. 182(11)

The multiple pterygium syndromes (MPS) are rare disorders with disease severity ranging from lethal to milder forms. The nonlethal Escobar variant MPS (EVMPS) is characterized by multiple pterygia and arthrogryposis, as well as various additional fea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae4f8b65ba48170135edeb361dce3a5
https://pubmed.ncbi.nlm.nih.gov/32902138