Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts (Q28585557)

GOA release 2020-03-11

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P. S. Sarkar

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31 January 2017

B. Appukuttan

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31 January 2017

J. Han

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31 January 2017

Y. Ito

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31 January 2017

C. Ai

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31 January 2017

W. Tsai

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31 January 2017

Y. Chai

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31 January 2017

J. T. Stout

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31 January 2017

S. Reddy

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy

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31 January 2017

language of work or name

English

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publication date

1 May 2000

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31 January 2017

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31 January 2017

25

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31 January 2017

110–114

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31 January 2017

1

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31 January 2017

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Presenilins interact with Rab11, a small GTPase involved in the regulation of vesicular transport

21 April 2017

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Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene

21 April 2017

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Somatic mutations in the neurofibromatosis 1 gene in human tumors

21 April 2017

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 April 2017

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

1 reference

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells

21 January 2018

1 reference

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

21 January 2018

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The Drosophila sine oculis locus encodes a homeodomain-containing protein required for the development of the entire visual system

21 January 2018

1 reference

Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy

21 January 2018

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Promoter of mDMAHP/Six5: differential utilization of multiple transcription initiation sites and positive/negative regulatory elements

21 January 2018

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Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs

21 January 2018

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Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya

21 January 2018

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The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat

21 January 2018

1 reference

Abrogation of transforming growth factor-beta type II receptor stimulates embryonic mouse lung branching morphogenesis in culture

21 January 2018

1 reference

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

21 January 2018

1 reference

7 January 2021

Characterization of Scat (suture cataract), a dominant cataract mutation in mice

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7 January 2021

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

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7 January 2021

Targeted mutation of the DNA methyltransferase gene results in embryonic lethality

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7 January 2021