Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Kai Muru"'
Autor:
Elis Tiivoja, Karit Reinson, Kai Muru, Kristi Rähn, Kristina Muhu, Laura Mauring, Tiina Kahre, Sander Pajusalu, Katrin Õunap
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 604-613 (2022)
Abstract Inherited metabolic disorders (IMD) are a group of hereditary diseases wherein the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease. Estonia's small population and nationwide digitalised healthcare syste
Externí odkaz:
https://doaj.org/article/7ffb2fbfdf0d44f8a5934aa6a5fb29a8
Autor:
Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert‐Johnson, Sarah Mantia‐Macklin, Pilvi Ilves, Kai Muru, Monica H. Wojcik, Tiina Kahre, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information. Methods Data we
Externí odkaz:
https://doaj.org/article/5aff02c19dec4b41b527299b5660ab84
Autor:
Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov, Mari-Anne Vals, Rinse de Boer, Natalia H. Revelo, Richard Arts, Melissa Baerenfaenger, Fokje Zijlstra, Karin Huijben, Kimiyo Raymond, Kai Muru, Olga Fjodorova, Sander Pajusalu, Katrin Õunap, Martin ter Beest, Dirk Lefeber, Geert van den Bogaart
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Mutations in genes critical for proper intra-Golgi transport can cause human syndromes due to defects in glycosylation of proteins. Here, the authors identify a human variant of Syntaxin-5 that causes fatal multisystem disease and mislocalization of
Externí odkaz:
https://doaj.org/article/a484fd5da84a4c6e8dc6c4421c08bd42
Autor:
Siiri Sarv, Tiina Kahre, Eve Vaidla, Sander Pajusalu, Kai Muru, Haide Põder, Katrin Gross-Paju, Sandra Ütt, Riina Žordania, Inga Talvik, Eve Õiglane-Shlik, Kristina Muhu, Katrin Õunap
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ qual
Externí odkaz:
https://doaj.org/article/34c5d0e86045450fa6bcd2f503b01e7f
Autor:
Konstantin Ridnõi, Kai Muru, Maria Keernik, Sander Pajusalu, Eva‐Liina Ustav, Pille Tammur, Triin Mölter‐Väär, Tiina Kahre, Ustina Šamarina, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Background Introduction of cell‐free fetal DNA (cff‐DNA) testing in maternal blood opened possibilities to improve the performance of combined first‐trimester screening (cFTS) in terms of better detection of trisomies and lowering inva
Externí odkaz:
https://doaj.org/article/a1bd234398de46adb422b1616e776216
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 1-5 (2018)
Vitamin B12 deficiency seems to be more common worldwide than previously thought. However, only a few reports based on data from newborn screening (NBS) programs have drawn attention to that subject. In Estonia, over the past three years, we have dia
Externí odkaz:
https://doaj.org/article/aa8412c245cc43ec9237c0bf2b06e7cb
Autor:
Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K. J. Olsen, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Multiple acyl‐CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH. Recently, riboflavin transporter genes and
Externí odkaz:
https://doaj.org/article/037c94e70446405288bdd9eee3164556
Autor:
Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets, Katrin Õunap
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Blood phenylalanine (Phe) values from the dried blood spots of all Estonian phenylketonuria (PKU) patients have been deposited into a unified electronic laboratory database for eight years, providing an opportunity to assess the adherence of the pati
Externí odkaz:
https://doaj.org/article/aaa26324ac1148c3980ce02a12e447fd
Autor:
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto
Publikováno v:
Human molecular genetics, 31(24), 4131-4142. Oxford University Press
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167
Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167
Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history
Autor:
Kaisa Teele Oja, Mihkel Ilisson, Karit Reinson, Kai Muru, Tiia Reimand, Hedi Peterson, Dmytro Fishman, Tõnu Esko, Toomas Haller, Jaanika Kronberg, Monica H. Wojcik, Adam Kennedy, Gregory Michelotti, Anne O’Donnell-Luria, Eve Õiglane-Šlik, Sander Pajusalu, Katrin Õunap
Publikováno v:
medRxiv
IntroductionEpilepsy is a common central nervous system disorder characterized by abnormal brain electrical activity. We aimed to compare the metabolic profiles of plasma from patients with epilepsy across different etiologies, seizure frequency, sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8217fce3ef36565998e8d5a9579e5dad
https://europepmc.org/articles/PMC10081398/
https://europepmc.org/articles/PMC10081398/