SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes (Q24311846)

GOA release 2020-03-11

limb development

1 reference

GOA release 2020-03-11

Sal-like protein 1

1 reference

GOA release 2020-03-11

Townes-Brocks syndrome

1 reference

Susan M Kiefer

1

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Lynn Robbins

2

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Andrew Barina

3

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Zhihong Zhang

4

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Michael Rauchman

Nonsense-mediated decay and the molecular pathogenesis of mutations inSALL1 andGLI3

5

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language of work or name

English

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publication date

September 2008

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published in

Human Mutation

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volume

29

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issue

9

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page(s)

1133-40

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

Transcription factor haploinsufficiency: when half a loaf is not enough

21 January 2018

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Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

21 January 2018

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7 January 2021

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Cross-regulatory interactions among tracheal genes support a co-operative model for the induction of tracheal fates in the Drosophila embryo.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Comparative analysis of genes downstream of the Hoxd cluster in developing digits and external genitalia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Function of the spalt/spalt-related gene complex in positioning the veins in the Drosophila wing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

FOG-1 recruits the NuRD repressor complex to mediate transcriptional repression by GATA-1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Murine Sall1 represses transcription by recruiting a histone deacetylase complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

A conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Two-step process for photoreceptor formation in Drosophila.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

The Caenorhabditis elegans spalt-like gene sem-4 restricts touch cell fate by repressing the selector Hox gene egl-5 and the effector gene mec-3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Shox2 is required for chondrocyte proliferation and maturation in proximal limb skeleton

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Synpolydactyly in mice with a targeted deficiency in the HoxD complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021

Targeted misexpression of constitutively active BMP receptor-IB causes bifurcation, duplication, and posterior transformation of digit in mouse limb.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20759

7 January 2021