(Q28941779)

English

Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome

scientific journal article

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scholarly article

1 reference

14 March 2017

Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome (English)

1 reference

14 March 2017

0 references

Forkhead box C1

1 reference

GOA release 2020-03-11

positive regulation of transcription by RNA polymerase II

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GOA release 2020-03-11

Axenfeld-Rieger syndrome

1 reference

based on heuristic

inferred from title

2

object named as

Tim Footz

1 reference

14 March 2017

author name string

Morteza Seifi

1

1 reference

14 March 2017

Sherry A. M. Taylor

3

1 reference

14 March 2017

Michael A. Walter

4

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14 March 2017

publication date

1 February 2017

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14 March 2017

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14 March 2017

38

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14 March 2017

169–179

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14 March 2017

2

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14 March 2017

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Regulation of FOXC1 stability and transcriptional activity by an epidermal growth factor-activated mitogen-activated protein kinase signaling cascade

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

An empirical energy function for threading protein sequence through the folding motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Identification of deleterious mutations within three human genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Analyses of a novel L130F missense mutation in FOXC1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Diagnosis of Basal-Like Breast Cancer Using a FOXC1-Based Assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Five years on the wings of fork head

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Automated inference of molecular mechanisms of disease from amino acid substitutions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Expression of temperature-sensitive ion channel TRPM8 in sperm cells correlates with vertebrate evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Predicting the effects of amino acid substitutions on protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Variation Interpretation Predictors: Principles, Types, Performance, and Choice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Essential structural and functional determinants within the forkhead domain of FOXC1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Identification and Analysis of a Novel Mutation in the FOXC1 Forkhead Domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

High expression of FOXC1 is associated with poor clinical outcome in non-small cell lung cancer patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Overexpression of forkhead box C1 promotes tumor metastasis and indicates poor prognosis in hepatocellular carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

21 January 2018

Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

7 January 2021

based on heuristic

inferred from DOI database lookup

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23141

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.23141

1 reference

14 March 2017

1 reference

14 March 2017

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