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Akademický článek

High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

Autor: Russell J. Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas E. Johnson, Robert B. Weiss

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)

Abstract Background Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are of

Externí odkaz: https://doaj.org/article/884a44c305934ddda134cf24be79485e

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Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing

Autor: Russell J Butterfield, Diane M Dunn, Brett Duval, Sarah Moldt, Robert B Weiss

Publikováno v: bioRxiv

Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array on the chromosome 4q telomere allowing ectopic expression of theDUX4gene in skeleta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f5fb623d8296a2d98f90906076e46d
https://europepmc.org/articles/PMC9949141/

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High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

Autor: Robert B. Weiss, Marcia L. Feldkamp, Diane M. Dunn, Tara M. Newcomb, Brett Duval, Russell J. Butterfield, Katie Mayne, Nicholas E. Johnson, Carina Imburgia

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine

Background Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are often nonsp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87deac8e5c227c761506944bd26bf711
https://doaj.org/article/884a44c305934ddda134cf24be79485e

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Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program

Autor: Marcia L. Feldkamp, Diane M. Dunn, Katie Mayne, Russell J Butterfield, Carina Imburgia, Tara M. Newcomb, Nicholas E. Johnson, Brett Duval, Robert B. Weiss

Publikováno v: Neurology

Objective:To determine whether the genetic prevalence of the CTG expansion in the DMPK gene associated with myotonic dystrophy (DM1) in an unbiased cohort is higher than previously reported population estimates, ranging from 5-20 per 100,000 individu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1cca4b8fc6fe79d2e0b9c22bb44c0cd
https://europepmc.org/articles/PMC8055332/

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