(Q24313055)

English

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

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The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis (English)

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Forkhead box C2

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GOA release 2020-03-11

positive regulation of transcription, DNA-templated

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GOA release 2020-03-11

hereditary lymphedema

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based on heuristic

inferred from title

Lymphedema–distichiasis syndrome

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based on heuristic

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author name string

Fred B Berry

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Yahya Tamimi

2

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Michelle V Carle

3

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Ordan J Lehmann

4

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Michael A Walter

5

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language of work or name

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publication date

15 September 2005

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Human Molecular Genetics

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14

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18

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2619-27

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1 reference

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Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending

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Forkhead transcription factors: key players in development and metabolism

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Solution structure and dynamics of the DNA-binding domain of the adipocyte-transcription factor FREAC-11

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Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

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Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

1 reference

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The fork head domain: a novel DNA binding motif of eukaryotic transcription factors?

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Mechanisms of TGF-beta signaling from cell membrane to the nucleus

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Fox's in development and disease

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Mutation of the FOXC2 gene in familial distichiasis

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Solution structure of the DNA binding domain of the human forkhead transcription factor AFX (FOXO4)

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FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate

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Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

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Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

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Exposing the human nude phenotype

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A forkhead-domain gene is mutated in a severe speech and language disorder

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

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

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X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

1 reference

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based on heuristic

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

1 reference

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Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis.

1 reference

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The control of gene expression by regulated nuclear transport

1 reference

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based on heuristic

inferred from DOI database lookup

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

1 reference

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based on heuristic

inferred from DOI database lookup

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

1 reference

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based on heuristic

inferred from DOI database lookup

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

1 reference

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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

1 reference

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based on heuristic

inferred from DOI database lookup

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

1 reference

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based on heuristic

inferred from DOI database lookup

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

1 reference

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Molecular genetics of Axenfeld-Rieger malformations

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

1 reference

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based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI295

7 January 2021

based on heuristic

inferred from DOI database lookup

Essential structural and functional determinants within the forkhead domain of FOXC1

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner

1 reference

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based on heuristic

inferred from DOI database lookup

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

1 reference

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based on heuristic

inferred from DOI database lookup

Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function

1 reference

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based on heuristic

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

1 reference

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based on heuristic

inferred from DOI database lookup

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

1 reference

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inferred from DOI database lookup

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based on heuristic

inferred from DOI database lookup

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