Zobrazeno 1 - 10
of 125
pro vyhledávání: '"Katarina Pelin"'
Autor:
Johanna Lehtonen, Anna-Maija Sulonen, Henrikki Almusa, Vilma-Lotta Lehtokari, Mridul Johari, Aino Palva, Anna H. Hakonen, Kirmo Wartiovaara, Anna-Elina Lehesjoki, Bjarne Udd, Carina Wallgren-Pettersson, Katarina Pelin, Marco Savarese, Janna Saarela
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Rare or novel missense variants in large genes such as TTN and NEB are frequent in the general population, which hampers the interpretation of putative disease-causing biallelic variants in patients with sporadic neuromuscular disorders. Oft
Externí odkaz:
https://doaj.org/article/43e5137fe16b43bb8cfbbc8eaa443ea1
Autor:
Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
Externí odkaz:
https://doaj.org/article/e75223815948439e9477ffcd46c3405b
Autor:
Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)
Abstract Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients have autosomal recessive disease due to a comp
Externí odkaz:
https://doaj.org/article/091348b090194a35b6fa183d1b10a74b
Autor:
Lydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski
Publikováno v:
PLoS ONE, Vol 17, Iss 5, p e0267793 (2022)
The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection me
Externí odkaz:
https://doaj.org/article/bdeb40436e6343f8a22bc2390219ceff
Publikováno v:
Genes, Vol 13, Iss 5, p 905 (2022)
Intragenic segmental duplication regions are potential hotspots for recurrent copy number variation and possible pathogenic aberrations. Two large sarcomeric genes, nebulin and titin, both contain such segmental duplication regions. Using our custom
Externí odkaz:
https://doaj.org/article/49fddfd1d2b142d8a6e573044516d52b
Publikováno v:
Genes; Volume 13; Issue 5; Pages: 905
Intragenic segmental duplication regions are potential hotspots for recurrent copy number variation and possible pathogenic aberrations. Two large sarcomeric genes, nebulin and titin, both contain such segmental duplication regions. Using our custom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d51f3e0ae96795899cc8754ad5d4e8a2
http://hdl.handle.net/10138/345182
http://hdl.handle.net/10138/345182
Autor:
Katarina Pelin, K. Kiiski, Manu Jokela, Maria Gardberg, Peter Hackman, Salla Välipakka, L. Sagath, Vilma Lotta Lehtokari, Anna Vihola, Bjarne Udd, Carina Wallgren-Pettersson
We report the first mosaic mutation, a deletion of exons 11-107, identified in the nebulin gene in a Finnish patient presenting with a predominantly distal congenital myopathy and asymmetric muscle weakness. The female patient is ambulant and current
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9abca50d44ce3335c33dc600d1e26677
http://hdl.handle.net/10138/345178
http://hdl.handle.net/10138/345178
Autor:
Ian Holt, Mubashir Hanif, Katarina Pelin, Carina Wallgren-Pettersson, Caroline Sewry, Glenn E. Morris, J. Laitila, Le Thanh Lam
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports
Scientific Reports
Nebulin is a very large protein required for assembly of the contractile machinery in muscle. Mutations in the nebulin gene NEB are a common cause of nemaline myopathy. Nebulin mRNA is alternatively-spliced so that each mRNA contains either exon 143