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Dystrophia myotonica-protein kinase

DM2, DM1, DMPK, Wnt2, myotonic dystrophy protein kinase
The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, AGE, CAN, erbB-2, Insulin
Papers on DM2
In vivo assessment of muscle membrane properties in myotonic dystrophy.
Bostock et al., Bern, Switzerland. In Muscle Nerve, Feb 2016
INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance.
Miranda et al., Alacant, Spain. In Aten Primaria, Feb 2016
OBJECTIVES: Define the impact and causes of non-adherent type-2 diabetes mellitus (DM2) patients, possible solutions and the role of the different health care professionals involved in the treatment.
A Biparatopic HER2-Targeting Antibody-Drug Conjugate Induces Tumor Regression in Primary Models Refractory to or Ineligible for HER2-Targeted Therapy.
Coats et al., Gaithersburg, United States. In Cancer Cell, Feb 2016
When conjugated with a tubulysin-based microtubule inhibitor, the biparatopic ADC demonstrates superior anti-tumor activity over ado-trastuzumab emtansine (T-DM1) in tumor models representing various patient subpopulations, including T-DM1 eligible, T-DM1 ineligible, and T-DM1 relapsed/refractory.
Antibody-drug conjugates-an emerging class of cancer treatment.
Banerji et al., London, United Kingdom. In Br J Cancer, Feb 2016
In recent years, two ADCs have been licensed, T-DM1 and brentuximab vedotin, and are already establishing their place in cancer treatment.
Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy.
Takahashi et al., Ōsaka, Japan. In Ann Clin Transl Neurol, Jan 2016
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is caused by the expansion of a CTG repeat in the 3' untranslated region of DMPK.
Lipoprotein hydrophobic core lipids are partially extruded to surface in smaller HDL: "Herniated" HDL, a common feature in diabetes.
Correig et al., Tarragona, Spain. In Sci Rep, Dec 2015
Here we hypothesize that the size-modulated lipid distribution within HDL particles is compromised in metabolic disorders that have abnormal HDL particle sizes, such as type 2 diabetes mellitus (DM2).
A review of HER2-targeted therapy in breast and ovarian cancer: lessons from antiquity - CLEOPATRA and PENELOPE.
Tewari et al., Orange, United States. In Future Oncol, Dec 2015
For example, the therapeutic arena in breast cancer has benefited greatly from available endocrine therapies as well as novel drugs designed to target the HER2 receptor, including trastuzumab, lapatinib, T-DM1 and pertuzumab.
Yoga for Adults with Type 2 Diabetes: A Systematic Review of Controlled Trials.
Selfe et al., Morgantown, United States. In J Diabetes Res, Dec 2015
A growing body of evidence suggests yogic practices may benefit adults with type 2 diabetes (DM2).
Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.
Farrar et al., Sydney, Australia. In World J Clin Pediatr, Dec 2015
Myotonic dystrophy type 1 (DM1) is multisystem disease arising from mutant CTG expansion in the non-translating region of the dystrophia myotonica protein kinase gene.
Current challenges in HER2-positive breast cancer.
Marchetti et al., Udine, Italy. In Crit Rev Oncol Hematol, Dec 2015
Moreover, with the availability of new highly effective HER2-directed therapies, including pertuzumab and trastuzumab-emtansine (T-DM1), the treatment algorithm for HER2-positive breast cancer continues to evolve.
Feasibility and cardiac safety of trastuzumab emtansine after anthracycline-based chemotherapy as (neo)adjuvant therapy for human epidermal growth factor receptor 2-positive early-stage breast cancer.
Gianni et al., Boston, United States. In J Clin Oncol, May 2015
PURPOSE: Trastuzumab emtansine (T-DM1), an antibody-drug conjugate comprising the cytotoxic agent DM1, a stable linker, and trastuzumab, has demonstrated substantial activity in human epidermal growth factor receptor 2 (HER2) -positive metastatic breast cancer, raising interest in evaluating the feasibility and cardiac safety of T-DM1 in early-stage breast cancer (EBC).
Species-wide genetic incompatibility analysis identifies immune genes as hot spots of deleterious epistasis.
Weigel et al., Tübingen, Germany. In Cell, 2015
A particularly dangerous locus is a highly variable cluster of NLR genes, DM2, which causes multiple independent incompatibilities with genes that encode a range of biochemical functions, including NLRs.
Role of ACE and AGT gene polymorphisms in genetic susceptibility to diabetes mellitus type 2 in a Brazilian sample.
Genro et al., Lajeado, Brazil. In Genet Mol Res, 2014
The aim of the current study was to investigate the association between the InDel polymorphism in the angiotensin I-converting enzyme gene (ACE) and the rs699 polymorphism in the angiotensinogen gene (AGT) and diabetes mellitus type 2 (DM2) in a sample population from Southern Brazil.
Trastuzumab emtansine in human epidermal growth factor receptor 2-positive metastatic breast cancer: an integrated safety analysis.
Krop et al., Paris, France. In J Clin Oncol, 2014
PURPOSE: The antibody-drug conjugate trastuzumab emtansine (T-DM1) combines the cytotoxic activity of DM1 with the human epidermal growth factor receptor 2 (HER2) -targeted, antitumor properties of trastuzumab.
Systemic therapy for patients with advanced human epidermal growth factor receptor 2-positive breast cancer: American Society of Clinical Oncology clinical practice guideline.
American Society of Clinical Oncology et al., Austin, United States. In J Clin Oncol, 2014
The CLEOPATRA trial found survival and PFS benefits for docetaxel, trastuzumab, and pertuzumab in first-line treatment, and the EMILIA trial found survival and PFS benefits for trastuzumab emtansine (T-DM1) in second-line treatment.
The WNT2 gene polymorphism associated with speech delay inherent to autism.
Chiu et al., Taipei, Taiwan. In Res Dev Disabil, 2012
The WNT2 gene may play a suggestive role in language development in autistic disorder.
RNA sequencing of pancreatic circulating tumour cells implicates WNT signalling in metastasis.
Haber et al., Boston, United States. In Nature, 2012
Expression of WNT2 in pancreatic cancer cells suppresses anoikis, enhances anchorage-independent sphere formation, and increases metastatic propensity in vivo.
Altered replication in human cells promotes DMPK (CTG)(n) · (CAG)(n) repeat instability.
Leffak et al., Dayton, United States. In Mol Cell Biol, 2012
In the DMPK/SIX5 locus, the presence of two potential replication origins presents an opportunity to screen for trans-acting second-site genes and therapeutic agents affecting chromatin structure, DNA replication, and trinucleotide repeats stability
Clinical, electrophysiologic and pathologic findings in 10 patients with myotonic dystrophy 2.
Frand et al., H̱olon, Israel. In Isr Med Assoc J, 2011
Myotonic dystrophy 2(autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3.) described in Israeli Jewish European ancestry.
The different function of single phosphorylation sites of Drosophila melanogaster lamin Dm and lamin C.
Rzepecki et al., Wrocław, Poland. In Plos One, 2011
of single phosphorylation sites of Drosophila melanogaster lamin Dm and lamin C
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