Cargando…

Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis

Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance. We describe a patient with myotonic dystrophy who developed biopsy-proven non-a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bhardwaj, Rishi R., Duchini, Andrea
Formato:	Texto
Lenguaje:	English
Publicado:	S. Karger AG 2010
Materias:	Published: March 2010
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2988905/ https://www.ncbi.nlm.nih.gov/pubmed/21103235 http://dx.doi.org/10.1159/000292093

Ejemplares similares

Etiopathogenesis of Nonalcoholic Steatohepatitis: Role of Obesity, Insulin Resistance and Mechanisms of Hepatotoxicity
por: Guturu, Praveen, et al.
Publicado: (2012)

Adult Mesenchymal Hamartoma of the Liver: Case Report and Literature Review
por: Klaassen, Zachary, et al.
Publicado: (2010)

Variant on Manifestation of Duodenal Metastasis 26 Years after Initial Diagnosis of Primary Cutaneous Melanoma
por: Kitajima, Kumiko, et al.
Publicado: (2010)

Primary Pancreatic Lymphoma: The Role of Surgical Treatment
por: Sugishita, Hiroki, et al.
Publicado: (2010)

Gastrointestinal Stromal Tumor of the Stomach with Narrow Stalk-Like Based, Uneven Protruding Appearance Presenting with Severe Acute Anemia despite Small Size
por: Tahara, Tomomitsu, et al.
Publicado: (2010)

Adenocarcinoma of Ascending Colon Associated with Sarcoid Reaction in Regional Lymph Nodes
por: Fujii, Takaaki, et al.
Publicado: (2010)

Intraabdominal Intravascular Papillary Endothelial Hyperplasia (Masson's Tumor): A Rare and Novel Cause of Gastrointestinal Bleeding
por: Meadows, Michael C., et al.
Publicado: (2010)

Progressive Stroke-Like Symptoms in a Patient with Sporadic Creutzfeldt-Jakob Disease
por: Lyytinen, Jukka, et al.
Publicado: (2010)

Evolution of Callosal and Cortical Lesions on MRI in Marchiafava-Bignami Disease
por: Yoshizaki, T., et al.
Publicado: (2010)

Neuroendocrine Carcinoma of the Bladder
por: Kawahara, Takashi, et al.
Publicado: (2010)

Is It Time to Inform This Patient that Further Antineoplastic Drug Therapy Will Not Be of Clinical Value?
por: Markman, Maurie
Publicado: (2010)

Outcome of Surgical Treatment for Metastatic Vertebra Bone Tumor in Advanced Lung Cancer
por: Fukuhara, Akiko, et al.
Publicado: (2010)

Primary Lymphoma of the Kidney in an Adult Male – The First Reported Case from Iran
por: Moslemi, Mohammad Kazem, et al.
Publicado: (2010)

Schmincke's Tumor, Carcinoma of the Base of the Tongue c T1-2, cN2c M0 – A Case Report
por: Merz, H., et al.
Publicado: (2010)

Alopecia Areata Associated with Localized Vitiligo
por: Kuchabal, Shankarling D., et al.
Publicado: (2010)

Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood
por: Buckley, Lauren, et al.
Publicado: (2016)

Role of Myotonic Dystrophy Protein Kinase (DMPK) in Glucose Homeostasis and Muscle Insulin Action
por: Llagostera, Esther, et al.
Publicado: (2007)

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
por: Yanovsky-Dagan, Shira, et al.
Publicado: (2021)

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
por: Rasmussen, Astrid, et al.
Publicado: (2022)

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice
por: Jauvin, Dominic, et al.
Publicado: (2017)

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1
por: Miller, Jacob N., et al.
Publicado: (2020)

Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
por: Mohan, Vasavi, et al.
Publicado: (2012)

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells
por: Pešović, Jovan, et al.
Publicado: (2018)

Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells
por: Porquet, Florent, et al.
Publicado: (2023)

Fructose and Non-Alcoholic Steatohepatitis
por: Roeb, Elke, et al.
Publicado: (2021)

Statins in Non-alcoholic Steatohepatitis
por: Torres-Peña, Jose D., et al.
Publicado: (2021)

Combined alcoholic and non-alcoholic steatohepatitis
por: Ntandja Wandji, Line Carolle, et al.
Publicado: (2020)

Familial Hypobetalipoproteinemia-Induced Nonalcoholic Steatohepatitis
por: Lam, Mindy C.W., et al.
Publicado: (2012)

Muscleblind1, but Not Dmpk or Six5, Contributes to a Complex Phenotype of Muscular and Motivational Deficits in Mouse Models of Myotonic Dystrophy
por: Matynia, Anna, et al.
Publicado: (2010)

Rapid Recovery from Acute Liver Failure Secondary to Pancreatoduodenectomy-Related Non-Alcoholic Steatohepatitis
por: Nirei, Kazushige, et al.
Publicado: (2013)

Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia
por: Ambrose, Kathlin K, et al.
Publicado: (2017)

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
por: Hildonen, Mathis, et al.
Publicado: (2020)

AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1
por: Stepniak-Konieczna, Ewa, et al.
Publicado: (2020)

Abdominal subcutaneous adipose tissue insulin resistance and lipolysis in patients with non-alcoholic steatohepatitis
por: Armstrong, M J, et al.
Publicado: (2014)

Controlled attenuation parameter-insulin resistance (CIR) score to predict non-alcoholic steatohepatitis
por: Macias, Juan, et al.
Publicado: (2022)

Role of Alcohol Metabolism in Non-Alcoholic Steatohepatitis
por: Baker, Susan S., et al.
Publicado: (2010)

Liver Fibrogenesis in Non-Alcoholic Steatohepatitis
por: Bian, Zhaolian, et al.
Publicado: (2012)

Therapeutic approaches for non-alcoholic steatohepatitis
por: Van Gaal, Luc F., et al.
Publicado: (2021)

Analysis of mutational dynamics at the DMPK (CTG)(n) locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1
por: Corrales, Eyleen, et al.
Publicado: (2019)

A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene
por: Nakayama, Mayuka, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_5e6rc653c42ohgbg3eqil5kbsd