Zobrazeno 1 - 10
of 80
pro vyhledávání: '"L, Bachinski"'
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
Autor:
Bjarne Udd, Mark Screen, Olayinka Raheem, Linda L. Bachinski, Tiina Suominen, Ralf Krahe, Anna Vihola, Mario Sirito
Publikováno v:
Neuropathology and Applied Neurobiology. 39:390-405
A. Vihola, M. Sirito, L. L. Bachinski, O. Raheem, M. Screen, T. Suominen, R. Krahe and B. Udd (2013) Neuropathology and Applied Neurobiology39, 390–405 Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2 Aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9666e8f05e6407ccf300f0da7d7e299
https://doi.org/10.1111/j.1365-2990.2012.01289.x
https://doi.org/10.1111/j.1365-2990.2012.01289.x
Autor:
Ralf Krahe, Stephen R. Dlouhy, Matteo Vatta, Linda L. Bachinski, Sujata Chakraborty, Shaochun Bai
Publikováno v:
Current Protocols in Human Genetics
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. Myotonic dystrophy type 1 is caused by CTG repeat expansion in the 3' UTR region of the DMPK gene. Patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f48c04ec563e0040ba91d134b8396d
https://doi.org/10.1002/cphg.22
https://doi.org/10.1002/cphg.22
Autor:
Ralf Krahe, Anna Vihola, Shodimu Emmanuel Olufemi, Mario Sirito, Yi-Ping Li, Jeanette Holmlund-Hampf, Hannu Haapasalo, Bjarne Udd, Linda L. Bachinski, Olayinka Raheem
Publikováno v:
The American Journal of Pathology. 177:3025-3036
The mutation that underlies myotonic dystrophy type 2 (DM2) is a (CCTG)n expansion in intron 1 of zinc finger protein 9 (ZNF9). It has been suggested that ZNF9 is of no consequence for disease pathogenesis. We determined the expression levels of ZNF9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3dcc9625779201744b2a36fa20c795
https://doi.org/10.2353/ajpath.2010.100179
https://doi.org/10.2353/ajpath.2010.100179
Publikováno v:
Muscle & Nerve. 42:856-863
Because of their central role in muscle development and maintenance, MEF2 family members represent excellent candidate effectors of the muscle pathology in myotonic dystrophy (DM). We investigated the expression and alternative splicing of all four M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea85cb2221c6f109b69082cd12f8d6d4
https://doi.org/10.1002/mus.21789
https://doi.org/10.1002/mus.21789
Autor:
Olayinka Raheem, Anna Vihola, Anders Paetau, Jeanette Holmlund-Hampf, Shodimu-Emmanuel Olufemi, Giovanni Meola, Ralf Krahe, Lars Edström, Shohrae Hajibashi, Hannu Haapasalo, Bjarne Udd, Tiina Suominen, Keith A. Baggerly, Linda L. Bachinski, Rosanna Cardani, Hannu Kalimo, Mario Sirito
Publikováno v:
Acta Neuropathologica. 119:465-479
Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of-function has been suggested to cause the complex phenotype in myotonic dystrophies type 1 and 2 (DM1 and DM2). However, the molecular basis of muscle weakn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3e9188c53005d71eb5d4f37486d4fc
https://doi.org/10.1007/s00401-010-0637-6
https://doi.org/10.1007/s00401-010-0637-6
Autor:
Tiina Suominen, Michael J. Siciliano, Tomasz J. Czernuszewicz, Linda L. Bachinski, Ralf Krahe, Mark D. Shriver, Louis S. Ramagli, B. Udd
Publikováno v:
Neurology. 72:490-497
Background: The myotonic dystrophies (DM1, DM2) are the most common adult muscle diseases and are characterized by multisystem involvement. DM1 has been described in diverse populations, whereas DM2 seems to occur primarily in European Caucasians. Bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230b88a228e0214e2f507b9d610c336f
https://doi.org/10.1212/01.wnl.0000333665.01888.33
https://doi.org/10.1212/01.wnl.0000333665.01888.33
Publikováno v:
Arthritis & Rheumatism. 58:3627-3631
Because of its high prevalence, fibromyalgia (FM) is a major general health issue. Myotonic dystrophy type 2 (DM2) is a recently described autosomal-dominant multisystem disorder. Besides variable proximal muscle weakness, myotonia, and precocious ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7068cd90ca6b72d2f0812648c22df95
https://doi.org/10.1002/art.24037
https://doi.org/10.1002/art.24037
Autor:
David E. Schuller, Stefano Colella, Spiridon Tsavachidis, James C. Lang, Linda L. Bachinski, Keith A. Baggerly, Ralf Krahe, Kristy L. Richards
Publikováno v:
Head and Neck
Head and Neck, Wiley, 2008, 30 (10), pp.1273-1283. ⟨10.1002/hed.20871⟩
Head and Neck 10 (30), 1273-1283. (2008)
Head and Neck, Wiley, 2008, 30 (10), pp.1273-1283. ⟨10.1002/hed.20871⟩
Head and Neck 10 (30), 1273-1283. (2008)
For most solid tumors, tumorigenesis occurs as a multistep process including both genetic and epi-genetic alterations, which together provide cancer cells with a selective growth advantage. Transformation of normal cells into malignant cells is chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc47a42639b8f35aa2f4fbae9cc04593
https://doi.org/10.1002/hed.20871
https://doi.org/10.1002/hed.20871
Autor:
Terry Tapscott, John J. Seger, Oscar Gonzales, Michael H. Gollob, Tanya N. Gollob, Robert Roberts, Linda L. Bachinski
Publikováno v:
Circulation. 104:3030-3033
Background — We recently reported a mutation in the PRKAG2 gene to be responsible for a familial syndrome of ventricular preexcitation, atrial fibrillation, conduction defects, and cardiac hypertrophy. We now report a novel mutation in PRKAG2 causi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbede7e6e3e2d93674b9f5d7266796ac
https://doi.org/10.1161/hc5001.102111
https://doi.org/10.1161/hc5001.102111