Results 11 to 20 of about 799 (137)

Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy [PDF]

Journal of the American Academy of Dermatology, 2004
We describe the third case (to our knowledge) of multiple basal cell carcinoma associated with myotonic dystrophy and carry out a genetic study of the tumor comparing it with healthy skin.
Bañuls, José, Botella, Rafael, Carnero, Lucía, Díaz, Carmina, Palau, Francesc, Payá, Artemio, Ramón, Regina, Vergara, Gloria   +7 more
core   +4 more sources

Full-length myotonin protein kinase (72 kDa) displays serine kinase activity. [PDF]

Proc Natl Acad Sci U S A, 1995
We describe the full-length (72 kDa) myotonin protein kinase (Mt-PK) and demonstrate its kinase activity. The 72-kDa protein corresponds to the translation product from the first in-frame AUG codon. This protein was found in the cytoplasmic fraction, whereas the previously reported 55-kDa protein was observed in nuclear extracts.
Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT.   +5 more
europepmc   +4 more sources

Modulation of skeletal muscle sodium channels by human myotonin protein kinase. [PDF]

J Clin Invest, 1995
In myotonic muscular dystrophy, abnormal muscle Na currents underlie myotonic discharges. Since the myotonic muscular dystrophy gene encodes a product, human myotonin protein kinase, with structural similarity to protein kinases, we tested the idea that human myotonin protein kinase modulates skeletal muscle Na channels.
Mounsey JP, Xu P, John JE, Horne LT, Gilbert J, Roses AD, Moorman JR.   +6 more
europepmc   +4 more sources

Distribution and evolution of CTG repeats at the myotonin protein kinase gene in human populations. [PDF]

Genome Research, 1996
We have analyzed the CTG repeat length and the neighboring Alu insertion/deletion (+/-) polymorphism in DNA samples from 16 ethnically and geographically diverse human populations to understand the evolutionary dynamics of the myotonic dystrophy-associated CTG repeat.
Deka, Ranjan, Majumder, Partha P., Shriver, Mark D., Stivers, David N., Zhong, Yixi, Yu, Ling Mei, Barrantes Mesén, Ramiro, Yin, Shih-Jiun, Miki, Tetsuro, Hundrieser, Joachim, Bunker, Clareann H., McGarvey, Stephen T., Sakallah, Sameer, Ferrell, Robert E., Chakraborty, Ranajit   +14 more
openaire   +4 more sources

A novel Sac I RFLP in the 3′ untranslated region of the myotonin protein kinase gene [PDF]

Journal of Human Genetics, 1999
We found a novel Sac I polymorphism downstream of CTG repeats in the 3' untranslated region of the myotonin protein kinase (MT-PK) gene. A C to G transition at nucleotide 13,590 in the gene was revealed by Southern blotting and confirmed by sequencing analyses.
A, Nakamura, N, Minami, T, Kamitani, K, Kamakura, K, Arahata, S, Takeda   +5 more
openaire   +2 more sources

Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. [PDF]

Proc Natl Acad Sci U S A, 1997
Myotonic dystrophy (DM) is associated with expansion of CTG repeats in the 3′-untranslated region of the myotonin protein kinase (DMPK) gene. The molecular mechanism whereby expansion of the (CUG) n repeats in the 3′-untranslated region of DMPK gene induces DM is unknown. We previously
Roberts R, Timchenko NA, Miller JW, Reddy S, Caskey CT, Swanson MS, Timchenko LT.   +6 more
europepmc   +4 more sources

Application of disease-associated differentially expressed genes – Mining for functional candidate genes for mastitis resistance in cattle [PDF]

, 2003
In this study the mRNA differential display method was applied to identify mastitis-associated expressed DNA sequences based on different expression patterns in mammary gland samples of non-infected and infected udder quarters of a cow.
Brunner, Ronald M, Czernek-Schäfer, Diana, Goldammer, Tom, Kata, Srinivas R, Pareek, Chandra, Pareek, Ravi, Schwerin, Manfred, Walawski, Krzysztof, Womack, James E   +8 more
core   +9 more sources

Three-dimensional imaging in myotonic dystrophy type 1 [PDF]

, 2020
Altres ajuts: The research of G. Nogales-Gadea, A. Ramos-Fransi, and A. Lucia is funded by Instituto de Salud Carlos III and cofinanced by Fondos FEDER. G.
Almendrote, Miriam, Ballester-Lopez, Alfonsina, Chojnacki, Jakub, Coll-Cantí, Jaume, Guanyabens, Nicolau, Hanick, Shaliza Ann, Koehorst, Emma, Linares-Pardo, Ian, Lopez-Osias, Marta, Lucente, Giuseppe, Lucia, Alejandro, Martínez-Piñeiro, Alicia, Nogales, Gisela, Núñez-Manchón, Judit, Pintos-Morell, Guillem, Ramos-Fransi, Alba, Suárez-Mesa, Adrián, Universitat Autònoma de Barcelona   +17 more
core   +1 more source

Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India [PDF]

Human Mutation, 2000
We have studied the CTG repeat sizes in the DMPK gene and six biallelic markers which are in complete linkage disequlibrium with Caucasian DM patients, to identify any common founder haplotype in 30 clinically diagnosed unrelated DM patients from eastern India.
P, Basu, P K, Gangopadhaya, S C, Mukherjee, S K, Das, K K, Sinha, N P, Bhattacharyya   +5 more
openaire   +2 more sources

DNA damage induces nuclear actin filament assembly by Formin-2 and Spire-1/2 that promotes efficient DNA repair [PDF]

, 2015
© The Author(s), 2015. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in eLife 4 (2015): e07735, doi:10.7554/eLife.07735.Actin filaments assemble inside the nucleus in ...
Belin, Brittany J., Lee, Terri, Mullins, R. Dyche   +2 more
core   +3 more sources