Results 31 to 40 of about 843 (162)
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 +7 more
openaire +2 more sources
Disease Models & Mechanisms, 2018 Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (DMPK) transcripts containing expanded CUG repeats.
Mouli Chakraborty +6 more
doaj +1 more source
Phosphoregulators:protein kinases and protein phosphatases of mouse [PDF]
, 2003 With the completion of the human and mouse genome sequences, the task now turns to identifying their encoded transcripts and assigning gene function. In this study, we have undertaken a computational approach to identify and classify all of the protein ...
+7 more
core +2 more sources
Lactate levels affect motor performance in MD 1 [PDF]
, 2014 Myotonic Dystrophy type 1 (DM1) is a dominantly inherited disease comprehending multiple features. Fatigue and exhaustion during exercise often represent significant factors able to negatively influence their compliance to rehabilitation programs ...
Bruno Rossi +4 more
core +3 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 +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 +17 more
core +1 more source
Neuropathology does not Correlate with Regional Differences in the Extent of Expansion of CTG Repeats in the Brain with Myotonic Dystrophy Type 1 [PDF]
, 2010 Myotonic dystrophy (DM1) is known to be an adult-onset muscular dystrophy caused by the expansion of CTG repeats within the 3' untranslated region of the dystrophin myotonin protein kinase (DMPK) gene.
Itaru Funakawa +7 more
core +3 more sources
Analysis of CAG/CTG triplet repeats in the human genome: implication in transcription factor gene regulation [PDF]
, 1995 Instability and polymorphism at several CAG/CTG trinucleotide repeat loci have been associated with human genetic disorders. In an attempt to identify novel sites that may be possible loci for expansion of CAG/CTG repeats, we searched all human sequences
Bhandari, Rashna, Brahmachari, Samir K.
core +1 more source