Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression (Q28116169)

4 January 2017

title

Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression (English)

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Tripartite motif containing 44

4 January 2017

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regulation of gene expression

GOA release 2020-03-11

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GOA release 2020-03-11

author name string

Xibo Zhang

1

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4 January 2017

Gang Qin

2

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4 January 2017

Guilan Chen

3

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4 January 2017

Tao Li

4

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4 January 2017

Linghan Gao

5

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4 January 2017

Li Huang

6

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4 January 2017

Ying Zhang

7

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4 January 2017

Ke Ouyang

8

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4 January 2017

Yuqi Wang

9

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4 January 2017

Yu Pang

10

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4 January 2017

Bo Zeng

11

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4 January 2017

Ling Yu

12

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4 January 2017

publication date

1 December 2015

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4 January 2017

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4 January 2017

volume

36

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4 January 2017

issue

12

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4 January 2017

page(s)

1164–1167

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Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

4 January 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.22907

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Characteristics of a human cell line transformed by DNA from human adenovirus type 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

RING finger proteins: mediators of ubiquitin ligase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

The human PAX6 gene is mutated in two patients with aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Overexpression of TRIM44 contributes to malignant outcome in gastric carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Clinical and molecular aspects of aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Aniridia: current pathology and management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Three-gene immunohistochemical panel adds to clinical staging algorithms to predict prognosis for patients with esophageal adenocarcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

21 January 2018

PAX6 mutations reviewed

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https://api.crossref.org/works/10.1002%2FHUMU.22907

MicroInspector: a web tool for detection of miRNA binding sites in an RNA sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

TRIM family proteins: emerging class of RING E3 ligases as regulator of NF-κB pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Trim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

TRIM44 interacts with and stabilizes terf, a TRIM ubiquitin E3 ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

Novel function of Trim44 promotes an antiviral response by stabilizing VISA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

TRIM proteins as RING finger E3 ubiquitin ligases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

inferred from DOI database lookup

7 January 2021

based on heuristic

Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22907

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22907

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