Dominantly inherited, non-coding microsatellite expansion disorders (Q34699401)

4 August 2017

1 reference

title

Dominantly inherited, non-coding microsatellite expansion disorders (English)

1 reference

4 August 2017

1 reference

Laura P W Ranum

1

1 reference

PubMed ID

12076668

4 August 2017

John W Day

series ordinal

2

1 reference

4 August 2017

1 June 2002

1 reference

Current Opinion in Genetics & Development

4 August 2017

1 reference

4 August 2017

12

1 reference

4 August 2017

3

1 reference

4 August 2017

266-271

1 reference

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

4 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Expansion explosion: new clues to the pathogenesis of repeat expansion neurodegenerative diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Understanding the molecular basis of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Glutamine repeats and neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Polyglutamine expansion neurodegenerative disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Deconstructing myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Progressive atrioventricular conduction block in a mouse myotonic dystrophy model.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Expanding complexity in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Myotonic dystrophy--a multigene disorder.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Genetic mapping of a second myotonic dystrophy locus.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Linkage of proximal myotonic myopathy to chromosome 3q.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Cellular nucleic acid binding protein binds a conserved region of the 5' UTR of Xenopus laevis ribosomal protein mRNAs

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Involvement of the Xenopus laevis Ro60 autoantigen in the alternative interaction of La and CNBP proteins with the 5'UTR of L4 ribosomal protein mRNA

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Spinocerebellar ataxia type 8: clinical features in a large family.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

1 reference

7 January 2021

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900297-6

7 January 2021

10.1016/S0959-437X(02)00297-6

Identifiers

DOI

1 reference

4 August 2017

1 reference

PubMed ID

12076668