Zobrazeno 1 - 10
of 107
pro vyhledávání: '"Ralf Krahe"'
Publikováno v:
Journal of Osteoporosis, Vol 2023 (2023)
In previous study, we showed that nucleolar protein 66 (NO66) is a chromatin modifier and negatively regulates Osterix activity as well as mesenchymal progenitor differentiation. Genetic ablation of the NO66 (RIOX1) gene in cells of the Prx1-expressi
Externí odkaz:
https://doaj.org/article/37fd898b717f4d80b836f9001cba744b
Autor:
Adam Kurkiewicz, Anneli Cooper, Emily McIlwaine, Sarah A Cumming, Berit Adam, Ralf Krahe, Jack Puymirat, Benedikt Schoser, Lubov Timchenko, Tetsuo Ashizawa, Charles A Thornton, Simon Rogers, John D McClure, Darren G Monckton
Publikováno v:
PLoS ONE, Vol 15, Iss 4, p e0231000 (2020)
Myotonic dystrophy type 1 (DM1) is a rare genetic disorder, characterised by muscular dystrophy, myotonia, and other symptoms. DM1 is caused by the expansion of a CTG repeat in the 3'-untranslated region of DMPK. Longer CTG expansions are associated
Externí odkaz:
https://doaj.org/article/98c9e046fa80486cac510a3bd487250e
Autor:
David C. Qian, David L. Molfese, Jennifer L. Jin, Alexander J. Titus, Yixuan He, Yafang Li, Maxime Vaissié, Humsini Viswanath, Philip R. Baldwin, Ralf Krahe, Ramiro Salas, Christopher I. Amos
Publikováno v:
BMC Genomics, Vol 18, Iss 1, Pp 1-10 (2017)
Abstract Background Nearly 6 million deaths and over a half trillion dollars in healthcare costs worldwide are attributed to tobacco smoking each year. Extensive research efforts have been pursued to elucidate the molecular underpinnings of smoking a
Externí odkaz:
https://doaj.org/article/bbda8a22707a4fad9f35e2a12d1f3837
Autor:
Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma García-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo López Castel, Ralf Krahe, Andreas Bergmann
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 8, Pp 993-1003 (2017)
The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by different unstable, noncoding microsatellite repeat expansions – (CTG)DM1 in DMPK and (CCTG)DM2 in CNBP. Alt
Externí odkaz:
https://doaj.org/article/cbb6e2af4d3b491fa03105c67cd2e540
Autor:
Eyleen Corrales, Melissa Vásquez, Baili Zhang, Carolina Santamaría-Ulloa, Patricia Cuenca, Ralf Krahe, Darren G Monckton, Fernando Morales
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0216407 (2019)
Genotype-to-phenotype correlation studies in myotonic dystrophy type 1 (DM1) have been confounded by the age-dependent, tissue-specific and expansion-biased features of somatic mosaicism of the expanded CTG repeat. Previously, we showed that by contr
Externí odkaz:
https://doaj.org/article/2ad7d19cb5c446329cb2e93f06d76a02
Autor:
Shenying Fang, Ralf Krahe, Guillermina Lozano, Younghun Han, Wei Chen, Sean M Post, Baili Zhang, Charmaine D Wilson, Linda L Bachinski, Louise C Strong, Christopher I Amos
Publikováno v:
PLoS ONE, Vol 5, Iss 5, p e10813 (2010)
Previous studies have shown that MDM2 SNP309 and p53 codon 72 have modifier effects on germline P53 mutations, but those studies relied on case-only studies with small sample sizes. The impact of MDM4 polymorphism on tumor onset in germline mutation
Externí odkaz:
https://doaj.org/article/7e66f8ac6623470e9ba2601658b97df3
Publikováno v:
PLoS ONE, Vol 5, Iss 2, p e9301 (2010)
Myotonic dystrophy types 1 and 2 (DM1 and DM2) are forms of muscular dystrophy that share similar clinical and molecular manifestations, such as myotonia, muscle weakness, cardiac anomalies, cataracts, and the presence of defined RNA-containing foci
Externí odkaz:
https://doaj.org/article/e47b323665f74d2f94545e51dec368ef
Autor:
Steven T Lott, Nanyue Chen, Dawn S Chandler, Qifeng Yang, Luo Wang, Marivonne Rodriguez, Hongyan Xie, Seetharaman Balasenthil, Thomas A Buchholz, Aysegul A Sahin, Katrina Chaung, Baili Zhang, Shodimu-Emmanu Olufemi, Jinyun Chen, Henry Adams, Vimla Band, Adel K El-Naggar, Marsha L Frazier, Khandan Keyomarsi, Kelly K Hunt, Subrata Sen, Bruce Haffty, Stephen M Hewitt, Ralf Krahe, Ann McNeill Killary
Publikováno v:
PLoS Medicine, Vol 6, Iss 5, p e1000068 (2009)
BackgroundBreast cancer in young women tends to have a natural history of aggressive disease for which rates of recurrence are higher than in breast cancers detected later in life. Little is known about the genetic pathways that underlie early-onset
Externí odkaz:
https://doaj.org/article/80c15ad0ab1e4021a74355c082025b8e
Autor:
Kristy L Richards, Baili Zhang, Keith A Baggerly, Stefano Colella, James C Lang, David E Schuller, Ralf Krahe
Publikováno v:
PLoS ONE, Vol 4, Iss 3, p e4941 (2009)
Loss of genome-wide methylation is a common feature of cancer, and the degree of hypomethylation has been correlated with genomic instability. Global methylation of repetitive elements possibly arose as a defense mechanism against parasitic DNA eleme
Externí odkaz:
https://doaj.org/article/fcfe6dda54aa4fa492300df8a62a3772
Autor:
Fernando Morales, Eyleen Corrales, Melissa Vásquez, Baili Zhang, Huberth Fernández, Fernando Alvarado, Sergio Cortés, Carolina Santamaría-Ulloa, Marigold Myotonic Dystrophy Biomarkers Discovery Initiative-MMDBDI, Ralf Krahe, Darren G Monckton
Publikováno v:
Human Molecular Genetics. 32:621-631
Myotonic dystrophy type 1 is a complex disease caused by a genetically unstable CTG repeat expansion in the 3′-untranslated region of the DMPK gene. Age-dependent, tissue-specific somatic instability has confounded genotype–phenotype associations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66faf5ce29b261845a90a8f6bbe256e
https://doi.org/10.1093/hmg/ddac231
https://doi.org/10.1093/hmg/ddac231