Results 41 to 50 of about 799 (137)

Immunocytochemical localization of myotonin protein kinase on muscle from patients with congenital myotonic dystrophy.

Histology and histopathology, 1996
Using a polyclonal anti myotonin-protein kinase (M-PK) antibody against synthetic M-PK peptides corresponding to part of the amino acid sequence, and the immunohistochemical analysis of indirect immunoperoxidase, we have investigated localization of M-PK on muscle from patients with congenital myotonic dystrophy.
Tachi, N., Kozuka, N., Ohya, K., Chiba, S., Kikuchi, K.   +4 more
openaire   +2 more sources

Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. [PDF]

Am J Pathol, 1997
It is quite important to know the exact localization and function of myotonin protein kinase (MtPK), identified as the gene product of myotonic dystrophy, the most prevalent disease with multisystem disorders among muscular dystrophies. To investigate the localization of MtPK, we raised a polyclonal antibody against a synthetic peptide chosen within ...
Shimokawa M, Ishiura S, Kameda N, Yamamoto M, Sasagawa N, Saitoh N, Sorimachi H, Ueda H, Ohno S, Suzuki K, Kobayashi T.   +10 more
europepmc   +2 more sources

Characterization of the Endothelial Cell Cytoskeleton following HLA Class I Ligation [PDF]

, 2012
Vascular endothelial cells (ECs) are a target of antibody-mediated allograft rejection. In vitro, when the HLA class I molecules on the surface of ECs are ligated by anti-HLA class I antibodies, cell proliferation and survival pathways are activated and ...
A Bottley, AC Steven, B Zhang, C Csortos, C Huang, C Huang, C Suzuki, D Soulat, DH Kim, DM Shasby, EJ Lepin, Elaine F. Reed, F Houle, F Houle, F Vinals, FM McCarthy, H Bian, H Nojima, H Zhi-Liang, I Rabinovitz, I Vlodavsky, I Vlodavsky, J Kurner, JG Howe, JP Couty, JS Lee, Julian P. Whitelegge, KA Barbee, L Zhou, LM Machesky, M Cervera, M Kaksonen, M Willett, M Yeh, Mary E. Ziegler, ME Chicurel, ML Coleman, N Nath, N Prasain, Neil A. Hotchin, O Durieu-Trautmann, O Medalia, P Adamson, PA D'Amore, PA Srere, PM Brunner, PT Jindra, PT Jindra, Puneet Souda, R Linding, RA Weinberg, RB Colvin, RO Hynes, S Bandhakavi, S Coupel, S Etienne, S Etienne-Manneville, SM Dudek, T Kinnunen, TD Pollard, WF Patton, WJ Kim, WW Hancock, X Meng, X Zhang, Yi-Ping Jin, YP Jin, YP Jin, YP Jin   +68 more
core   +5 more sources

Congenital myotonic dystrophy: case report [PDF]

, 2014
Miotonička distrofi ja ili Steinertova bolest druga je po učestalosti mišićna distrofi ja u djetinjstvu, odmah nakon progresivnih mišić- nih distrofi ja (Duchenne i Becker).
Antun Sasso, Goran Krakar, Ida Nađ, Irena Barbarić, Linda Pavić, Sanja Delin   +5 more
core   +2 more sources

Muscle MRI in myotonic dystrophy type 1 with foot drop [PDF]

, 2010
The purpose of this study was to investigate the relationship of muscle MRI findings and gait disturbance in myotonic dystrophy type 1 (DM1) patients. Thirteen patients with DM1 were evaluated by manual muscle strength test and muscle MRI of the lower ...
57466, 57467, 57468, 57469, 57470, HAMANO, Tadanori, HIRAYAMA, Mikio, KAWAMURA, Yasutaka, KURIYAMA, Masaru, MUTOH, Tatsuro   +9 more
core  

A role for RNA localization in the human neuromuscular disease myotonic dystrophy [PDF]

, 2009
textRNA localization, a regulated step of gene expression, is fundamentally important in development and differentiation. In multidisciplinary experiments, we discovered that RNA (mis)localization underlies the human disease myotonic dystrophy (DM).
Croft, Samantha Brooke
core   +1 more source

From phenotype to genotype: issues in navigating the available information resources [PDF]

, 2003
pre-printObjectives-As part of an investigation of connecting health professionals and the lay public to both disease and genomic information, we assessed the availability and nature of the data from the Human Genome Project relating to human genetic ...
McCray, A.T., Bodenreider, O., Mitchell, Joyce A.   +1 more
core  

Correlation of clinical profile of myotonic dystrophy with CTG repeats in the myotonin protein kinase gene.

The Indian journal of medical research, 1998
The molecular genetic analyses (PCR and Southern hybridization) of Indian patients with myotonic dystrophy (DM) were carried out to determine the degree of repeat expansion and an attempt was made to correlate the repeat number with disease severity. A scoring system based on the salient clinical features was devised to objectively assess the disease ...
GourieDevi, M, Chaudhuri, JR, Vasanth, A, Saleem, Q, Mutsuddi, M, Gopinath, M, Sarkar, PS, Brahmachari, SK   +7 more
openaire   +1 more source

HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1 [PDF]

Myotonic dystrophy type 1 (DM1) is a genetic disorder characterized by muscle wasting, myotonia, cataracts, cardiac arrhythmia, hyperinsulinism and intellectual deficits, and is caused by expansion of a CTG repeat in the 3’UTR of the Dystrophia Myotonica-
Brinker, Achim, Caldwell, Jeremy S., Chow, Siu-Kei, Engels, Ingo H., Garcia, Michael E., O’Leary, Debra A., Schmedt, Christian, Sharif, Orzala, Sigal, Yury J., Vargas, Leonardo   +9 more
core   +2 more sources

Cellular processes regulating cytoskeletal signaling, insulin resistance and calcium signaling are commonly misregulated in Type 1 and Type 2 myotonic dystrophy patients [PDF]

, 2014
Myotonic dystrophy (DM) is a mutisystemic neurological disorder with an autosomal dominant inheritance involving skeletal and cardiac muscles. There are two different types of DM identified; type1 myotonic dystrophy (DM1) and type2 myotonic dystrophy ...
Prasad, Nripesh
core   +1 more source