Zobrazeno 1 - 10
of 79
pro vyhledávání: '"J. David Brook"'
Autor:
Jose M. G. Izarzugaza, Sabrina G. Ellesøe, Canan Doganli, Natasja Spring Ehlers, Marlene D. Dalgaard, Enrique Audain, Gregor Dombrowsky, Karina Banasik, Alejandro Sifrim, Anna Wilsdon, Bernard Thienpont, Jeroen Breckpot, Marc Gewillig, Competence Network for Congenital Heart Defects, Germany, J. David Brook, Marc-Phillip Hitz, Lars A. Larsen, Søren Brunak
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-13 (2020)
Abstract Background Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease etiology. The aim
Externí odkaz:
https://doaj.org/article/92a05a17ba10474dab142a5c231868b9
Autor:
Marzena Wojciechowska, Krzysztof Sobczak, Piotr Kozlowski, Saam Sedehizadeh, Agnieszka Wojtkowiak-Szlachcic, Karol Czubak, Robert Markus, Anna Lusakowska, Anna Kaminska, J. David Brook
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
Abstract Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in affected genes. The abnormal expansion of CTG repeats in the 3′-UTR of the DMPK gene elicits DM1
Externí odkaz:
https://doaj.org/article/5f98b45be94545c6a92269f3ba50f1e7
Autor:
Karol Czubak, Katarzyna Taylor, Agnieszka Piasecka, Krzysztof Sobczak, Katarzyna Kozlowska, Anna Philips, Saam Sedehizadeh, J. David Brook, Marzena Wojciechowska, Piotr Kozlowski
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Splicing aberrations induced as a consequence of the sequestration of muscleblind-like splicing factors on the dystrophia myotonica protein kinase transcript, which contains expanded CUG repeats, present a major pathomechanism of myotonic dystrophy t
Externí odkaz:
https://doaj.org/article/f9a23745cc8a47ba826633b93a12d216
Publikováno v:
F1000Research, Vol 6 (2017)
Congenital heart disease is the most common congenital abnormality, and advances in medical care mean that this population of individuals is surviving for longer than ever before. It represents a significant healthcare challenge, as many patients req
Externí odkaz:
https://doaj.org/article/e95a59d92672459db9ea54c7dbcd0d35
Autor:
Tushar K. Ghosh, Javier T. Granados-Riveron, Sarah Buxton, Kerry Setchfield, Siobhan Loughna, J. David Brook
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 1, Iss 1, Pp 134-145 (2014)
Congenital heart disease (CHD) affects the intricate structure and function of the heart and is one of the leading causes of death in newborns. The genetic basis of CHD is beginning to emerge. Our laboratory has been engaged in identifying mutations
Externí odkaz:
https://doaj.org/article/7fe6ee008d754859824c1314ac3928f3
Autor:
Laura E. Machuca-Tzili, Sarah Buxton, Aaran Thorpe, Cathy M. Timson, Peter Wigmore, Pradeep K. Luther, J. David Brook
Publikováno v:
Disease Models & Mechanisms, Vol 4, Iss 3, Pp 381-392 (2011)
SUMMARY Myotonic dystrophy (DM; also known as dystrophia myotonica) is an autosomal dominant disorder that affects the heart, eyes, brain and endocrine system, but the predominant symptoms are neuromuscular, with progressive muscle weakness and wasti
Externí odkaz:
https://doaj.org/article/ac68c63ef7ab467e97eb7f95d79265c6
Publikováno v:
PLoS ONE, Vol 8, Iss 11 (2013)
Externí odkaz:
https://doaj.org/article/9f34134c22ff427da5538c6c3e6d28a4
Publikováno v:
Biochemistry Research International, Vol 2012 (2012)
Congenital heart disease (CHD) is the most common birth defect in humans. It is a leading infant mortality factor worldwide, caused by defective cardiac development. Mutations in transcription factors, signalling and structural molecules have been sh
Externí odkaz:
https://doaj.org/article/c278e6a466e544289b12ab80d575775c
Publikováno v:
Journal of Neurology. 269:2784-2787
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a0d2a11671c3ae90df509bd57929d54
https://doi.org/10.1007/s00415-021-10917-8
https://doi.org/10.1007/s00415-021-10917-8
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
Scientific Reports
TBX5 is a T-box family transcription factor that regulates heart and forelimb development in vertebrates and functional deficiencies in this protein result in Holt-Oram syndrome. Recently, we have shown that acetylation of TBX5 potentiates its activi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afdd8c041211372b735325fa517c0cad
http://link.springer.com/article/10.1038/s41598-019-54312-w
http://link.springer.com/article/10.1038/s41598-019-54312-w